derives_from
pro
has_part
pro
protein
pro
A biological macromolecule that is composed of amino acids linked in a linear sequence (a polypeptide chain) and is genetically encoded. Proteins descended from a common ancestor can be classified into families and superfamilies composed of products of evolutionarily-related genes. The domain architecture of a protein is described by the order of its constituent domains. Proteins with the same domains in the same order are defined as homeomorphic.
PRO:WCB
http://purl.org/obo/owl/PRO#PRO_WCB
E3 ubiquitin ligase SFC complex, Skp1 subunit
Pfam:PF01466 "has_part Skp1 family, dimerization domain".nPfam:PF03931 "has_part Skp1 family, tetramerisation domain".nGO:0006511 "participates_in [ISS] ubiquitin-dependent protein catabolic process".nGO:0019005 "part_of [ISS] SCF ubiquitin ligase complex".
pro
GO:0006511
http://purl.org/obo/owl/GO#GO_0006511
A protein with a core domain composition consisting of an N-terminal Skp1 family tetramerization domain followed by a Skp1 family dimerization domain. Skp1 proteins bind several F-box-containing proteins, and are involved in the ubiquitin protein degradation pathway.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF028729
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF028729
Pfam:PF01466
http://purl.org/obo/owl/Pfam#Pfam_PF01466
Pfam:PF03931
http://purl.org/obo/owl/Pfam#Pfam_PF03931
HLH DNA-binding protein inhibitor
Pfam:PF00010 "has_part Helix-loop-helix DNA-binding domain".nGO:0030528 "has_function [ISS] transcription regulator activity".nGO:0045449 "participates_in [ISS] regulation of transcription".
pro
A protein with a core domain composition consisting of an HLH domain, common to the basic HLH family of transcription factors, but lacking the DNA binding domain to the consensus E box response element (CANNTG). By binding to basic HLH transcription factors, Id proteins regulate gene expression.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0030528
http://purl.org/obo/owl/GO#GO_0030528
PIRSF:PIRSF005808
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF005808
GO:0045449
http://purl.org/obo/owl/GO#GO_0045449
Pfam:PF00010
http://purl.org/obo/owl/Pfam#Pfam_PF00010
RING-box protein
Pfam:PF00097 "has_part Zinc finger, C3HC4 type".nGO:0004842 "has_function [ISS] ubiquitin-protein ligase activity".nGO:0005515 "has_function [ISS] protein binding".nGO:0016567 "participates_in [ISS] protein ubiquitination".
pro
PIRSF:PIRSF016237
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF016237
Pfam:PF00097
http://purl.org/obo/owl/Pfam#Pfam_PF00097
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0004842
http://purl.org/obo/owl/GO#GO_0004842
A protein with a core domain composition consisting of a C3HC4 type zinc finger domain.
PMID:11573242
http://purl.org/obo/owl/PMID#PMID_11573242
GO:0016567
http://purl.org/obo/owl/GO#GO_0016567
TGF-beta receptor type-2
Pfam:PF00069 "has_part Protein kinase domain".nPfam:PF08917 "has_part Transforming growth factor beta receptor 2 ectodomain".nGO:0004672 "has_function [ISS] protein kinase activity".nGO:0005515 "has_function [ISS] protein binding".nGO:0006468 "participates_in [ISS] protein amino acid phosphorylation".nGO:0007179 "participates_in [ISS] transforming growth factor beta receptor signaling pathway".nGO:0042127 "participates_in [ISS] regulation of cell proliferation".
pro
TGFBR2
PIRSF:PIRSF037393
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037393
Pfam:PF00069
http://purl.org/obo/owl/Pfam#Pfam_PF00069
Pfam:PF08917
http://purl.org/obo/owl/Pfam#Pfam_PF08917
A protein that is a translation product of the TGFBR2 gene. The core domain organization is composed of a signal peptide followed by a transforming growth factor beta receptor 2 ectodomain, a transmembrane domain and a C-terminal protein kinase domain.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0042127
http://purl.org/obo/owl/GO#GO_0042127
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0004672
http://purl.org/obo/owl/GO#GO_0004672
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
TGF-beta superfamily receptor type-1
Pfam:PF00069 "has_part Protein kinase domain".nPfam:PF08515 "has_part Transforming growth factor beta type I GS-motif".nPfam:PF01064 "has_part Activin types I and II receptor domain".nGO:0005025 "has_function [ISS] transforming growth factor beta receptor activity, type I".nGO:0007178 "participates_in [ISS] transmembrane receptor protein serine/threonine kinase signaling pathway".nGO:0019838 "has_function [ISS] growth factor binding".
pro
A protein that is a translation product of the an evolutionary-related gene with core domain composition consisting of an extracellular activin types I and II receptor domain, a transmembrane domain, a GS-motif and a protein kinase domain. The transforming growth factor-beta (TGF-beta) superfamily of receptors comprises two groups of transmembrane serine-threonine kinase receptors, so called type 1, and type 2 receptors, that are activated following engagement by members of the TGF-beta superfamily of ligands. These events specify diverse downstream responses that are differentially regulated by controlling access and activation of the ligands, their receptors and downstream substrates in different cell types. The type 1 receptors are characterized by the presence of a glycine-serine rich juxta-membrane domain (the GS-motif) that is critical for their activation.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0019838
http://purl.org/obo/owl/GO#GO_0019838
GO:0007178
http://purl.org/obo/owl/GO#GO_0007178
GO:0005025
http://purl.org/obo/owl/GO#GO_0005025
Pfam:PF00069
http://purl.org/obo/owl/Pfam#Pfam_PF00069
TRANSFORMING GROWTH FACTOR-BETA RECEPTOR TYPE I (PTHR23255:SF8)
Pfam:PF08515
http://purl.org/obo/owl/Pfam#Pfam_PF08515
Pfam:PF01064
http://purl.org/obo/owl/Pfam#Pfam_PF01064
PIRSF:PIRSF037391
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037391
TGF-beta superfamily receptor type-2 with activin receptor domain
Pfam:PF00069 "has_part Protein kinase domain".nPfam:PF01064 "has_part Activin types I and II receptor domain".nGO:0004675 "has_function [ISS] transmembrane receptor protein serine/threonine kinase activity".nGO:0005515 "has_function [ISS] protein binding".nGO:0006468 "participates_in [ISS] protein amino acid phosphorylation".nGO:0007178 "participates_in [ISS] transmembrane receptor protein serine/threonine kinase signaling pathway".
pro
Pfam:PF00069
http://purl.org/obo/owl/Pfam#Pfam_PF00069
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
GO:0007178
http://purl.org/obo/owl/GO#GO_0007178
GO:0004675
http://purl.org/obo/owl/GO#GO_0004675
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
A protein that is a translation product of the an evolutionary-related gene with core domain composition consisting of an extracellular activin types I and II receptor domain, a transmembrane domain, and a protein kinase domain. The transforming growth factor-beta (TGF-beta) superfamily of receptors comprises two groups of transmembrane serine-threonine kinase receptors, so called type 1, and type 2 receptors, that are activated following engagement by members of the TGF-beta superfamily of ligands. These events specify diverse downstream responses that are differentially regulated by controlling access and activation of the ligands, their receptors and downstream substrates in different cell types.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF000627
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF000627
Pfam:PF01064
http://purl.org/obo/owl/Pfam#Pfam_PF01064
TGF-beta-like cysteine-knot cytokine
Pfam:PF00019 "has_part Transforming growth factor beta like domain".
pro
A protein with a core domain composition consisting of a signal peptide, a variable propeptide region and a transforming growth factor beta like domain, that is a cysteine-knot domain containing four conserved beta strands, S1-S4, which form two antiparallel beta sheets (SI-S2 and S3-S4) interconnected by three disulfide bridges in a knot-like topology. Cystines [II-V] and [III-VI] form a ring through which the remaining disulfide bond (Cys[I-IV]) penetrates. Insertion of different variable regions into this common motif has given rise to various subclasses of the growth factor cystine-knot domain.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF037399
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037399
PIRSF:PIRSF037328
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037328
PIRSF:PIRSF037401
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037401
PIRSF:PIRSF037400
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037400
TGF-beta superfamily
PIRSF:PIRSF037272
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037272
PIRSF:PIRSF037270
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037270
PIRSF:PIRSF037268
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037268
PIRSF:PIRSF016238
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF016238
PIRSF:PIRSF001787
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF001787
Pfam:PF00019
http://purl.org/obo/owl/Pfam#Pfam_PF00019
PIRSF:PIRSF037403
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037403
PIRSF:PIRSF037402
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037402
PIRSF:PIRSF037269
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037269
anti-Muellerian hormone type-2 receptor
Pfam:PF00069 "has_part Protein kinase domain".nGO:0005071 "has_function [ISS] transmembrane receptor protein serine/threonine kinase signaling protein activity".nGO:0007548 "participates_in [ISS] sex differentiation".
pro
GO:0005071
http://purl.org/obo/owl/GO#GO_0005071
AMHR2
A protein that is a translation product of the AMHR2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Pfam:PF00069
http://purl.org/obo/owl/Pfam#Pfam_PF00069
GO:0007548
http://purl.org/obo/owl/GO#GO_0007548
chordin
Pfam:PF00093 "has_part von Willebrand factor type C domain".nPfam:PF07452 "has_part CHRD domain".nGO:0005515 "has_function [ISS] protein binding".nGO:0008201 "has_function [ISS] heparin binding".nGO:0030510 "participates_in [ISS] regulation of BMP signaling pathway".nGO:0045545 "has_function [ISS] syndecan binding".
pro
GO:0008201
http://purl.org/obo/owl/GO#GO_0008201
GO:0030510
http://purl.org/obo/owl/GO#GO_0030510
A protein that is a translation product of the CHRD gene. Chordin regulates signaling by BMP pathway.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0045545
http://purl.org/obo/owl/GO#GO_0045545
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
PIRSF:PIRSF002496
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF002496
Pfam:PF07452
http://purl.org/obo/owl/Pfam#Pfam_PF07452
Pfam:PF00093
http://purl.org/obo/owl/Pfam#Pfam_PF00093
CHRD
class 1 small leucine-rich proteoglycan
Pfam:PF00560 "has_part Leucine Rich Repeat".nPfam:PF01462 "has_part Leucine rich repeat N-terminal domain".nGO:0005201 "has_function [ISS] extracellular matrix structural constituent".
pro
Pfam:PF00560
http://purl.org/obo/owl/Pfam#Pfam_PF00560
GO:0005201
http://purl.org/obo/owl/GO#GO_0005201
A protein with a core domain composition consisting of eight to ten tandem leucine-rich repeat sequences that are flanked at either end by cysteine rich disulphide loops.
PMID:14562268
http://purl.org/obo/owl/PMID#PMID_14562268
Pfam:PF01462
http://purl.org/obo/owl/Pfam#Pfam_PF01462
PIRSF:PIRSF002490
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF002490
creb-binding protein/zinc finger protein HRX chimera
pro
A protein that is a translation product of the fusion of CREBBP and MYST4 genes.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cullin
Pfam:PF00888 "has_part Cullin family".nGO:0031461 "part_of [ISS] cullin-RING ubiquitin ligase complex".
pro
Pfam:PF00888
http://purl.org/obo/owl/Pfam#Pfam_PF00888
PIRSF:PIRSF017874
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF017874
A protein with a core domain composition consisting of a cullin domain that functions as a molecular scaffold responsible for assembling the ROC1/Rbx1 RING-based E3 ubiquitin ligases.
PIRSF:PIRSF017874
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF017874
cyclin-dependent kinase inhibitor
Pfam:PF00023 "has_part Ankyrin repeat".nGO:0000079 "participates_in [ISS] regulation of cyclin-dependent protein kinase activity".nGO:0004861 "has_function [ISS] cyclin-dependent protein kinase inhibitor activity".nGO:0007050 "participates_in [ISS] cell cycle arrest".nGO:0008285 "participates_in [ISS] negative regulation of cell proliferation".
pro
GO:0007050
http://purl.org/obo/owl/GO#GO_0007050
GO:0008285
http://purl.org/obo/owl/GO#GO_0008285
Pfam:PF00023
http://purl.org/obo/owl/Pfam#Pfam_PF00023
PIRSF:PIRSF036346
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF036346
A protein with a core domain composition consisting of four ankyrin repeats, and functions as negative regulator of cyclin-dependent kinases.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0000079
http://purl.org/obo/owl/GO#GO_0000079
GO:0004861
http://purl.org/obo/owl/GO#GO_0004861
follistatin
Pfam:PF00050 "has_part Kazal-type serine protease inhibitor domain".nGO:0032926 "participates_in [ISS] negative regulation of activin receptor signaling pathway".
pro
GO:0032926
http://purl.org/obo/owl/GO#GO_0032926
FST
Pfam:PF00050
http://purl.org/obo/owl/Pfam#Pfam_PF00050
PIRSF:PIRSF002278
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF002278
A protein that is a translation product of the FST gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
hect domain-containing E3 ubiquitin-protein ligase with ww domains
Pfam:PF00397 "has_part WW domain".nPfam:PF00632 "has_part HECT-domain (ubiquitin-transferase)".nPfam:PF00168 "has_part C2 domain".nGO:0004842 "has_function [ISS] ubiquitin-protein ligase activity".
pro
GO:0004842
http://purl.org/obo/owl/GO#GO_0004842
Pfam:PF00632
http://purl.org/obo/owl/Pfam#Pfam_PF00632
PIRSF:PIRSF001569
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF001569
Pfam:PF00168
http://purl.org/obo/owl/Pfam#Pfam_PF00168
Pfam:PF00397
http://purl.org/obo/owl/Pfam#Pfam_PF00397
A protein with a core domain composition consisting of the C-terminal HECT domain, that is catalytically involved in the attachment of ubiquitin to substrate proteins, and an N-terminal extension with a c2 and two to three ww domains that mediate the substrate specificity.
PMID:18047743
http://purl.org/obo/owl/PMID#PMID_18047743
interferon gamma
Pfam:PF00714 "has_part Interferon gamma domain".nGO:0006955 "participates_in [ISS] immune response".nGO:0045080 "participates_in [ISS] positive regulation of chemokine biosynthetic process".
pro
Interferon gamma
A protein that is a translation product of the IFNG gene. The core domain structure consists of a interferon gamma domain that is four-helical cytokine domain with an additional helix in one of the crossover connections. It is a cytokine produced by lymphocytes activated by specific antigens or mitogens that has important immunoregulatory functions.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF001936
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF001936
Pfam:PF00714
http://purl.org/obo/owl/Pfam#Pfam_PF00714
GO:0045080
http://purl.org/obo/owl/GO#GO_0045080
GO:0006955
http://purl.org/obo/owl/GO#GO_0006955
latent TGF-beta-binding protein
Pfam:PF00008 "has_part EGF-like domain".nPfam:PF07974 "has_part EGF-like domain 2".nGO:0007179 "participates_in [ISS] transforming growth factor beta receptor signaling pathway".nGO:0019838 "has_function [ISS] growth factor binding".
pro
Pfam:PF07974
http://purl.org/obo/owl/Pfam#Pfam_PF07974
A protein similar in overall domain structure to fibrillins, that is mainly composed of two types of repeated protein domains, namely epidermal growth factor (EGF-like) and TB (8-Cys-like repeats). The latent TGF-beta-binding protein is characterized by having four of the TB domains.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Pfam:PF00008
http://purl.org/obo/owl/Pfam#Pfam_PF00008
GO:0019838
http://purl.org/obo/owl/GO#GO_0019838
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
PIRSF:PIRSF037569
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037569
mitogen-activated protein kinase
Pfam:PF00069 "has_part Protein kinase domain".nGO:0004672 "has_function [ISS] protein kinase activity".nGO:0006468 "participates_in [ISS] protein amino acid phosphorylation".
pro
A serine/threonine-specific protein kinase that responds to extracellular stimuli (mitogens) and regulates cellular activities such as gene expression, mitosis, differentiation, and cell survival/apoptosis. The activated form phosphorylates target substrates on serine or threonine residues followed by a proline. A distinguishing feature is the conserved sequence TxY [ENZYME:EC 2.7.11.24, Wikipedia:Mitogen-activated protein kinase].
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
Pfam:PF00069
http://purl.org/obo/owl/Pfam#Pfam_PF00069
GO:0004672
http://purl.org/obo/owl/GO#GO_0004672
myc protein
Pfam:PF00010 "has_part Helix-loop-helix DNA-binding domain".nPfam:PF01056 "has_part Myc amino-terminal region".nPfam:PF02344 "has_part Myc leucine zipper domain".nGO:0003677 "has_function [ISS] DNA binding".nGO:0005515 "has_function [ISS] protein binding".nGO:0042127 "participates_in [ISS] regulation of cell proliferation".
pro
Pfam:PF00010
http://purl.org/obo/owl/Pfam#Pfam_PF00010
Pfam:PF01056
http://purl.org/obo/owl/Pfam#Pfam_PF01056
Pfam:PF02344
http://purl.org/obo/owl/Pfam#Pfam_PF02344
PIRSF:PIRSF001705
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF001705
GO:0042127
http://purl.org/obo/owl/GO#GO_0042127
A protein with a core domain composition consisting of a myc amino-terminal regulatory domain, a helix-loop-helix DNA-binding domain, and a C-terminal myc leucine zipper domain. Myc proteins participatenin the regulation of cell proliferation, cell differentiation, and apoptosis.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0003677
http://purl.org/obo/owl/GO#GO_0003677
noggin protein
Pfam:PF05806 "has_part Noggin domain".nGO:0007275 "participates_in multicellular organismal development".nGO:0030509 "participates_in BMP signaling pathway".nGO:0030514 "participates_in negative regulation of BMP signaling pathway".
pro
GO:0030514
http://purl.org/obo/owl/GO#GO_0030514
PANTHER:PTHR11848:SF58
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11848:SF58
Pfam:PF05806
http://purl.org/obo/owl/Pfam#Pfam_PF05806
PIRSF:PIRSF008129
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF008129
GO:0007275
http://purl.org/obo/owl/GO#GO_0007275
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
NOG
A protein that is a translation product of the NOG gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
ptx homeobox protein
Pfam:PF00046 "has_part Homeobox domain".nPfam:PF03826 "has_part OAR domain".nGO:0003700 "has_function [ISS] transcription factor activity".nGO:0007275 "participates_in [ISS] multicellular organismal development".nGO:0045449 "participates_in [ISS] regulation of transcription".
pro
Pfam:PF03826
http://purl.org/obo/owl/Pfam#Pfam_PF03826
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
GO:0007275
http://purl.org/obo/owl/GO#GO_0007275
PIRSF:PIRSF000563
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF000563
Pfam:PF00046
http://purl.org/obo/owl/Pfam#Pfam_PF00046
A protein with a core domain composition consisting of an N-terminal K50 class homeobox domain and a C-terminal OAR motif. The homeobox domain consists of a self-folding, stable protein domain of 60 amino acids in which position 50 can confer a distinct DNA binding specificity. The K50 class of homeodomains recognizes a consensus DNA sequence of TAATCC.nHomeodomain-containing proteins are known to play important roles in such diverse activities as embryonic pattern formation, cell-type specification, and differentiation.
PMID:15895993
http://purl.org/obo/owl/PMID#PMID_15895993
GO:0045449
http://purl.org/obo/owl/GO#GO_0045449
retinoblastoma-like protein
Pfam:PF01857 "has_part Retinoblastoma-associated protein B domain".nPfam:PF01858 "has_part Retinoblastoma-associated protein A domain".nGO:0005515 "has_function [ISS] protein binding".nGO:0051726 "participates_in [ISS] regulation of cell cycle".
pro
PIRSF:PIRSF037408
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037408
A protein with a core domain composition consisting of a retinoblastoma-associated protein A domain followed by a retinoblastoma-associated protein B domain. The retinoblastoma-like proteins are key regulators of entry into cell division. They are directly involved in heterochromatin formation by maintaining overall chromatin structure and, in particular, that of constitutive heterochromatin by stabilizing histone methylation.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Pfam:PF01857
http://purl.org/obo/owl/Pfam#Pfam_PF01857
Pfam:PF01858
http://purl.org/obo/owl/Pfam#Pfam_PF01858
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0051726
http://purl.org/obo/owl/GO#GO_0051726
rho-associated protein kinase
Pfam:PF00433 "has_part Protein kinase C terminal domain".nPfam:PF08912 "has_part Rho Binding".nPfam:PF00069 "has_part Protein kinase domain".nPfam:PF00130 "has_part Phorbol esters/diacylglycerol binding domain (C1 domain)".nPfam:PF00169 "has_part PH domain".nGO:0004672 "has_function [ISS] protein kinase activity".nGO:0004674 "has_function [ISS] protein serine/threonine kinase activity".nGO:0006468 "participates_in [ISS] protein amino acid phosphorylation".nGO:0007266 "participates_in [ISS] Rho protein signal transduction".
pro
A protein that is a translation product of the an evolutionary-related gene with core domain composition consisting of an N-terminal protein kinase domain, a rho-binding domain, and PH and C1 domains at the C-terminus. Rho-associated protein kinases are mediators of many cellular processes by being effectors of the small GTP-binding protein Rho.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Pfam:PF00433
http://purl.org/obo/owl/Pfam#Pfam_PF00433
Pfam:PF00169
http://purl.org/obo/owl/Pfam#Pfam_PF00169
PIRSF:PIRSF037568
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037568
Pfam:PF00130
http://purl.org/obo/owl/Pfam#Pfam_PF00130
Pfam:PF00069
http://purl.org/obo/owl/Pfam#Pfam_PF00069
GO:0007266
http://purl.org/obo/owl/GO#GO_0007266
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
GO:0004674
http://purl.org/obo/owl/GO#GO_0004674
GO:0004672
http://purl.org/obo/owl/GO#GO_0004672
RHO-ASSOCIATED, COILED-COIL CONTAINING PROTEIN KINASE (PTHR22988:SF3)
Pfam:PF08912
http://purl.org/obo/owl/Pfam#Pfam_PF08912
ribosomal protein S6 kinase beta
Pfam:PF00069 "has_part Protein kinase domain".nPfam:PF00433 "has_part Protein kinase C terminal domain".nGO:0004672 "has_function [ISS] protein kinase activity".nGO:0004711 "has_function [ISS] ribosomal protein S6 kinase activity".nGO:0006468 "participates_in [ISS] protein amino acid phosphorylation".
pro
PIRSF:PIRSF000605
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF000605
GO:0004672
http://purl.org/obo/owl/GO#GO_0004672
GO:0004711
http://purl.org/obo/owl/GO#GO_0004711
A protein that specifically phosphorylates ribosomal protein S6 in response to insulin and other mitogens. It has core domain composition consisting of a protein kinase domain followed by a protein kinase C terminal domain.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
PANTHER:PTHR22985:SF83
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR22985:SF83
Pfam:PF00069
http://purl.org/obo/owl/Pfam#Pfam_PF00069
Pfam:PF00433
http://purl.org/obo/owl/Pfam#Pfam_PF00433
smad anchor for receptor activation
Pfam:PF01363 "has_part FYVE zinc finger".nGO:0008104 "participates_in [ISS] protein localization".
pro
PIRSF:PIRSF037289
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037289
Pfam:PF01363
http://purl.org/obo/owl/Pfam#Pfam_PF01363
GO:0008104
http://purl.org/obo/owl/GO#GO_0008104
A protein with a core domain composition consisting of a FYVE domain and a smad-binding domain that is involved in recruiting and presenting receptor-regulated smads to the receptor complex.
PMID:17356069
http://purl.org/obo/owl/PMID#PMID_17356069
smad protein
Pfam:PF03165 "has_part MH1 domain".nPfam:PF03166 "has_part MH2 domain".nGO:0005515 "has_function [ISS] protein binding".nGO:0006355 "participates_in [ISS] regulation of transcription, DNA-dependent".nGO:0007165 "participates_in [ISS] signal transduction".
pro
Pfam:PF03166
http://purl.org/obo/owl/Pfam#Pfam_PF03166
Pfam:PF03165
http://purl.org/obo/owl/Pfam#Pfam_PF03165
PIRSF:PIRSF037286
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037286
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
GO:0006355
http://purl.org/obo/owl/GO#GO_0006355
A protein with core domain composition consisting of one MH1 domain at the N-terminus and one MH2 domain at the C-terminus, separated by a non-conserved linker region. Smad proteins are mediators of signal transduction in transforming growth factor beta (TGF-beta) superfamily pathways.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
small GTPase
Pfam:PF00071 "has_part Ras family domain".
pro
A protein with a core domain composition consisting of a Ras family domain. The small GTPases are monomeric G-proteins which function as GDP/GTP-regulated molecular switches.
PMID:15731001
http://purl.org/obo/owl/PMID#PMID_15731001
PIRSF:PIRSF001710
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF001710
PIRSF:PIRSF037165
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037165
Pfam:PF00071
http://purl.org/obo/owl/Pfam#Pfam_PF00071
PIRSF:PIRSF038482
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038482
PIRSF:PIRF037527
http://purl.org/obo/owl/PIRSF#PIRSF_PIRF037527
PIRSF:PIRSF038017
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038017
PIRSF:PIRSF038456
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038456
PIRSF:PIRSF037169
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037169
PIRSF:PIRSF037502
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037502
PIRSF:PIRSF037166
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037166
thrombospondin subgroup A
Pfam:PF02412 "has_part Thrombospondin type 3 repeat".nPfam:PF05735 "has_part Thrombospondin C-terminal region".nPfam:PF00008 "has_part EGF-like domain".nPfam:PF00093 "has_part von Willebrand factor type C domain".nGO:0004866 "has_function [ISS] endopeptidase inhibitor activity".nGO:0008201 "has_function [ISS] heparin binding".nGO:0016525 "participates_in [ISS] negative regulation of angiogenesis".
pro
GO:0004866
http://purl.org/obo/owl/GO#GO_0004866
GO:0008201
http://purl.org/obo/owl/GO#GO_0008201
PIRSF:PIRSF002478
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF002478
Pfam:PF05735
http://purl.org/obo/owl/Pfam#Pfam_PF05735
Pfam:PF02412
http://purl.org/obo/owl/Pfam#Pfam_PF02412
Pfam:PF00093
http://purl.org/obo/owl/Pfam#Pfam_PF00093
Pfam:PF00008
http://purl.org/obo/owl/Pfam#Pfam_PF00008
GO:0016525
http://purl.org/obo/owl/GO#GO_0016525
A protein with a core domain composition consisting of a procollagen homology domain and three TSR domains at the N-terminus followed by three or four EGF-type repeats, a series of seven contiguous calcium-binding repeats (the thrombospondin type 3 repeats), and a globular carboxyl-terminal domain.
PMID:10842357
http://purl.org/obo/owl/PMID#PMID_10842357
thrombospondin subgroup B
Pfam:PF02412 "has_part Thrombospondin type 3 repeat".nPfam:PF05735 "has_part Thrombospondin C-terminal region".nGO:0008201 "has_function [ISS] heparin binding".
pro
PIRSF:PIRSF002479
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF002479
A protein with a core domain composition consisting of three or four EGF-type repeats, a series of seven contiguous calcium-binding repeats (the thrombospondin type 3 repeats), and a globular carboxyl-terminal domain.
PMID:10842357
http://purl.org/obo/owl/PMID#PMID_10842357
Pfam:PF05735
http://purl.org/obo/owl/Pfam#Pfam_PF05735
GO:0008201
http://purl.org/obo/owl/GO#GO_0008201
Pfam:PF02412
http://purl.org/obo/owl/Pfam#Pfam_PF02412
transcription adapter with TAZ, KIX and bromo-domains
Pfam:PF02135 "has_part TAZ zinc finger".nPfam:PF00439 "has_part Bromodomain".nPfam:PF02172 "has_part KIX domain".nPfam:PF00569 "has_part Zinc finger, ZZ type".nPfam:PF09030 "has_part Creb binding".nGO:0004402 "has_function [ISS] histone acetyltransferase activity".nGO:0016573 "participates_in [ISS] histone acetylation".
pro
A protein with a core domain composition consisting of a TAZ zinc finger domain, a KIX domain, a bromodomain, a dystrophin zinc finger domain, and a second copy of the TAZ zinc finger domain.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Pfam:PF02135
http://purl.org/obo/owl/Pfam#Pfam_PF02135
Pfam:PF00439
http://purl.org/obo/owl/Pfam#Pfam_PF00439
Pfam:PF00569
http://purl.org/obo/owl/Pfam#Pfam_PF00569
GO:0004402
http://purl.org/obo/owl/GO#GO_0004402
GO:0016573
http://purl.org/obo/owl/GO#GO_0016573
PANTHER:PTHR13808
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR13808
PIRSF:PIRSF036333
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF036333
Pfam:PF09030
http://purl.org/obo/owl/Pfam#Pfam_PF09030
Pfam:PF02172
http://purl.org/obo/owl/Pfam#Pfam_PF02172
transcription factor Sp
Pfam:PF00096 "has_part Zinc finger, C2H2 type".nGO:0003677 "has_function [ISS] DNA binding".nGO:0003700 "has_function [ISS] transcription factor activity".nGO:0006355 "participates_in [ISS] regulation of transcription, DNA-dependent".
pro
GO:0006355
http://purl.org/obo/owl/GO#GO_0006355
Pfam:PF00096
http://purl.org/obo/owl/Pfam#Pfam_PF00096
PIRSF:PIRSF037570
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037570
GO:0003677
http://purl.org/obo/owl/GO#GO_0003677
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
A protein that is a translation product of the an evolutionary-related gene with core domain composition consisting of N-terminal serine/threonine stretches adjacent to one or two glutamine-rich domains, which constitute the activation domains, and three C(2)H(2)-type zinc fingers at the C-terminus that are involved in binding GC/GT-rich promoter elements.
PMID:16209919
http://purl.org/obo/owl/PMID#PMID_16209919
tumor necrosis factor
Pfam:PF00229 "has_part TNF(Tumour Necrosis Factor) family".nGO:0005125 "has_function [ISS] cytokine activity".nGO:0006915 "participates_in [ISS] apoptosis".nGO:0007165 "participates_in [ISS] signal transduction".
pro
GO:0005125
http://purl.org/obo/owl/GO#GO_0005125
GO:0006915
http://purl.org/obo/owl/GO#GO_0006915
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
A protein with a core domain composition consisting of a N-terminal cytosolic domain, a type II transmembrane domain and a C-terminal TNF domain.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Pfam:PF00229
http://purl.org/obo/owl/Pfam#Pfam_PF00229
PIRSF:PIRSF001873
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF001873
BMP
GO:0005102 "has_function [ISS] receptor binding".nGO:0005125 "has_function [ISS] cytokine activity".nGO:0008083 "has_function [ISS] growth factor activity".nGO:0042803 "has_function [ISS] protein homodimerization activity".
pro
PIRSF:PIRSF037272
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037272
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
GO:0008083
http://purl.org/obo/owl/GO#GO_0008083
GO:0005125
http://purl.org/obo/owl/GO#GO_0005125
A TGF-beta-like cysteine-knot cytokine related to the transforming growth factor-beta, anti-Muellerian hormone, and activin/inhibin protein families, which are all involved in the regulation of cell growth and differentiation. These are produced as dimeric precursors and undergo post-translational processing for activation, requiring cleavage to release bioactive the C-terminal peptide. BMP is involved in body patterning and morphogenesis. BMP signals are transmitted through specific type 2 and type 1 receptors.
PIRSF:PIRSF037272
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037272
GO:0005102
http://purl.org/obo/owl/GO#GO_0005102
BMP receptor type-1A
pro
bone morphogenetic protein receptor type-IA
A TGF-beta superfamily receptor type-1 that is a translated product of BMPR1A gene. Bone morphogenetic protein (BMP) signals are transmitted by type 2 and type 1 serine/threonine kinase receptors. Type 2 receptors phosphorylate and activate type 1 receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMP2 and BMP4.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMPR1A
BMP receptor type-1B
pro
bone morphogenetic protein receptor type-IB
A TGF-beta superfamily receptor type-1 that is a translated product of BMPR1B gene. Bone morphogenetic protein (BMP) signals are transmitted by type 2 and type 1 serine/threonine kinase receptors. Type 2 receptors phosphorylate and activate type 1 receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators. Receptor for BMPS/OP-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
bone morphogenetic protein receptor type-1B
BMP receptor type-2
GO:0030509 "participates_in [ISS] BMP signaling pathway".
pro
Bone morphogenetic protein receptor type-2
A TGF-beta superfamily receptor type-2 with activin receptor domain that is a translation product of the BMPR2 gene. Bone morphogenetic protein (BMP) signals are transmitted by type 2 and type 1 serine/threonine kinase receptors. Type 2 receptors phosphorylate and activate type 1 receptors which autophosphorylate, then bind and activate SMAD transcriptional regulators.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
PIRSF:PIRSF500434
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500434
BMP receptor-regulated smad protein
GO:0030509 "participates_in [ISS] BMP signaling pathway".
pro
A smad protein which mediates signal transduction through activation of bone morphogenetic protein (BMP) or anti-Mullerian hormone pathways.
PMID:11532220
http://purl.org/obo/owl/PMID#PMID_11532220
PIRSF:PIRSF500500
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500500
PANTHER:PTHR13703:SF17
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR13703:SF17
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
DNA-binding protein inhibitor ID-1
GO:0005634 "located_in nucleus [PMID:15138269, TaxID:9606]".nGO:0016481 "participates_in negative regulation of transcription [PMID:15138269, TaxID:9606]".nGO:0046983 "has_function protein dimerization activity".nGO:0030509 "participates_in BMP signaling pathway [PMID:15820682; TaxID:10090]".nGO:0000122 "participates_in negative regulation of transcription from RNA polymerase II promoter [PMID:12498716, TaxID:10090]".
pro
A HLH DNA-binding protein inhibitor that is a translation product of the ID1 gene. This gene has two conserved protein coding exons.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF500477
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500477
ID1
GO:0016481
http://purl.org/obo/owl/GO#GO_0016481
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0000122
http://purl.org/obo/owl/GO#GO_0000122
GO:0046983
http://purl.org/obo/owl/GO#GO_0046983
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
DNA-binding protein inhibitor ID-2
GO:0016481 "participates_in [ISS] negative regulation of transcription".
pro
ID2
GO:0016481
http://purl.org/obo/owl/GO#GO_0016481
A HLH DNA-binding protein inhibitor that is a translation product of the ID2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF500478
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500478
DNA-binding protein inhibitor ID-3
GO:0016481 "participates_in negative regulation of transcription [PMID:14627819, TaxID:9606 ".
pro
ID3
A HLH DNA-binding protein inhibitor that is a translation product of the ID3 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0016481
http://purl.org/obo/owl/GO#GO_0016481
PIRSF:PIRSF500479
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500479
DNA-binding protein inhibitor ID-4
GO:0016481 "participates_in negative regulation of transcription".
pro
ID4
GO:0016481
http://purl.org/obo/owl/GO#GO_0016481
PIRSF:PIRSF500478
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500478
A HLH DNA-binding protein inhibitor that is a translation product of the ID4 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
RING-box protein 1
GO:0019005 "part_of SCF ubiquitin ligase complex".nGO:0031146 "participates_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process".
pro
GO:0031146
http://purl.org/obo/owl/GO#GO_0031146
RBX1
A protein that is a translation product of the RBX1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
RING-box protein 2
GO:0019005 "part_of [ISS] SCF ubiquitin ligase complex".nGO:0031146 "participates_in [ISS] SCF-dependent proteasomal ubiquitin-dependent protein catabolic process".
pro
A protein that is a translation product of the RNF7 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
RNF7
GO:0031146
http://purl.org/obo/owl/GO#GO_0031146
PIRSF:PIRSF500725
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500725
S-phase kinase-associated protein 1A
pro
An E3 ubiquitin ligase SFC complex, Skp1 subunit that is a translation product of the SKP1A gene. This gene has 5 conserved protein coding exons.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SKP1A
TGF-beta
GO:0005160 "has_function [ISS] transforming growth factor beta receptor binding".nGO:0007179 "participates_in [ISS] transforming growth factor beta receptor signaling pathway".nGO:0008083 "has_function [ISS] growth factor activity".nGO:0042127 "participates_in [ISS] regulation of cell proliferation".nGO:0042803 "has_function [ISS] protein homodimerization activity".
pro
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
PIRSF:PIRSF001787
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF001787
GO:0008083
http://purl.org/obo/owl/GO#GO_0008083
A TGFB-like cysteine-knot cytokine whose propeptide region is a latent associated peptide (LAP) that remains associated to the mature TGF-beta after cleavage and secretion, keeping TGF-beta inactive. TGF-beta is the founding member of the cysteine-knot cytokine family, and is related to the activin/inhibin, anti-Muellerian hormone, and bone morphogenic protein families, which are all involved in the regulation of cell growth and differentiation.
PIRSF:PIRSF001787
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF001787
GO:0042127
http://purl.org/obo/owl/GO#GO_0042127
GO:0005160
http://purl.org/obo/owl/GO#GO_0005160
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
transforming growth factor beta
TGF-beta receptor type-1
pro
A TGF-beta superfamily receptor type-1 that is a translated product of TGFBR1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGFBR1
TGF-beta receptor type-2 isoform 1
GO:0016021 "located_in integral to membrane".
pro
A TGF-beta receptor type-2 that is a translation product of a processed transcript of the TGFBR2 gene, and that includes the core domains, as in the mouse sequence UniProtKB: Q62312-2.
PMID:7957954
http://purl.org/obo/owl/PMID#PMID_7957954
GO:0016021
http://purl.org/obo/owl/GO#GO_0016021
TGF-beta receptor type-2 isoform 2
GO:0005026 "has_function transforming growth factor beta receptor activity, type II [PMID:7959019, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:7959019, TaxID:9606]".nGO:0008284 "participates_in positive regulation of cell proliferation [PMID:7959019, TaxID:9606]".nGO:0016021 "located_in integral to membrane [PMID:7959019, TaxID:9606]".
pro
A TGF-beta receptor type-2 that is a translation product of a processed transcript of the TGFBR2 gene, and that includes the core domains with an insertion of approximately 25 amino acids in the ectodomain just adjacent to the signal peptide, as in the mouse sequence UniProtKB:Q62312-1.
PMID:7957954
http://purl.org/obo/owl/PMID#PMID_7957954
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0005026
http://purl.org/obo/owl/GO#GO_0005026
GO:0008284
http://purl.org/obo/owl/GO#GO_0008284
GO:0016021
http://purl.org/obo/owl/GO#GO_0016021
TGF-beta receptor type-2 sequence variant 1
GO:0005026 "NOT has_function transforming growth factor beta receptor activity, type II".nMIM:154705 "agent_in MARFAN SYNDROME, TYPE II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:154705
http://purl.org/obo/owl/MIM#MIM_154705
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a Pro residue at the position equivalent to Leu-308 in human sequence UniProtKB:P37173.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-2 sequence variant 10
MIM:608967 "agent_in AORTIC ANEURYSM, FAMILIAL THORACIC 3".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a His residue at the position equivalent to Arg-460 in human sequence UniProtKB:P37173.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:608967
http://purl.org/obo/owl/MIM#MIM_608967
TGF-beta receptor type-2 sequence variant 11
MIM:608967 "agent_in AORTIC ANEURYSM, FAMILIAL THORACIC 3".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a Cys residue at the position equivalent to Arg-460 in human sequence UniProtKB:P37173.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:608967
http://purl.org/obo/owl/MIM#MIM_608967
TGF-beta receptor type-2 sequence variant 12
GO:0005026 "NOT has_function transforming growth factor beta receptor activity, type II".nMIM:133239 "agent_in ESOPHAGEAL CANCER".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:133239
http://purl.org/obo/owl/MIM#MIM_133239
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a Glu residue at the position equivalent to Gln-526 in human sequence UniProtKB:P37173.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-2 sequence variant 13
MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:609192
http://purl.org/obo/owl/MIM#MIM_609192
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a Cys residue at the position equivalent to Arg-528 in human sequence UniProtKB:P37173.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-2 sequence variant 14
MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:609192
http://purl.org/obo/owl/MIM#MIM_609192
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a His residue at the position equivalent to Arg-528 in human sequence UniProtKB:P37173.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-2 sequence variant 15
GO:0005026 "NOT has_function transforming growth factor beta receptor activity, type II".nMIM:154705 "agent_in MARFAN SYNDROME, TYPE II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a Cys residue at the position equivalent to Arg-537 in human sequence UniProtKB:P37173.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:154705
http://purl.org/obo/owl/MIM#MIM_154705
TGF-beta receptor type-2 sequence variant 16
MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a Trp residue at the position equivalent to Gly-357 in human sequence UniProtKB:P37173.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:609192
http://purl.org/obo/owl/MIM#MIM_609192
TGF-beta receptor type-2 sequence variant 2
GO:0008284 "participates_in positive regulation of cell proliferation".nMIM:190182 "agent_in COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 6".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a Met residue at the position equivalent to Thr-315 in human sequence UniProtKB:P37173.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:190182
http://purl.org/obo/owl/MIM#MIM_190182
GO:0008284
http://purl.org/obo/owl/GO#GO_0008284
TGF-beta receptor type-2 sequence variant 3
MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:609192
http://purl.org/obo/owl/MIM#MIM_609192
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a Asn residue at the position equivalent to Tyr-336 in human sequence UniProtKB:P37173.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-2 sequence variant 4
GO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".nGO:0016021 "located_in integral to membrane".nMIM:609192 "agent_in LOEYS-DIETZ SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a Pro residue at the position equivalent to Ala-355 in human sequence UniProtKB:P37173.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
GO:0016021
http://purl.org/obo/owl/GO#GO_0016021
MIM:609192
http://purl.org/obo/owl/MIM#MIM_609192
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
TGF-beta receptor type-2 sequence variant 5
Involved in BREAST TUMOR. GO:0005026 "has_function (decreased) transforming growth factor beta receptor activity, type II".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".nGO:0016021 "located_in integral to membrane".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
GO:0005026
http://purl.org/obo/owl/GO#GO_0005026
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
GO:0016021
http://purl.org/obo/owl/GO#GO_0016021
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a Met residue at the position equivalent to Val-387 in human sequence UniProtKB:P37173.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-2 sequence variant 6
Involved in BREAST TUMOR.nGO:0005026 "has_function (decreased) transforming growth factor beta receptor activity, type II".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
GO:0005026
http://purl.org/obo/owl/GO#GO_0005026
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a Ser residue at the position equivalent to Asn-435 in human sequence UniProtKB:P37173.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
TGF-beta receptor type-2 sequence variant 7
GO:0005026 "has_function (decreased) transforming growth factor beta receptor activity, type II".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".nGO:0016021 "located_in integral to membrane".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a Ala residue at the position equivalent to Val-447 in human sequence UniProtKB:P37173. This form is involved in breast tumors.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0005026
http://purl.org/obo/owl/GO#GO_0005026
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
GO:0016021
http://purl.org/obo/owl/GO#GO_0016021
TGF-beta receptor type-2 sequence variant 8
GO:0005026 "NOT has_function transforming growth factor beta receptor activity, type II".nMIM:154705 "agent_in MARFAN SYNDROME, TYPE II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:154705
http://purl.org/obo/owl/MIM#MIM_154705
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a Phe residue at the position equivalent to Ser-449 in human sequence UniProtKB:P37173.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-2 sequence variant 9
Involved in BREAST TUMOR. GO:0005026 "has_function (decreased) transforming growth factor beta receptor activity, type II".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
A TGF-beta receptor type-2 that is a translation product of the a polymorphic sequence variant of TGFBR2 gene that has a Met residue at the position equivalent to Leu-452 in human sequence UniProtKB:P37173.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005026
http://purl.org/obo/owl/GO#GO_0005026
TGF-beta receptor-regulated smad protein
GO:0007179 "participates_in [ISS] transforming growth factor beta receptor signaling pathway".nGO:0007183 "participates_in [ISS] SMAD protein complex assembly".
pro
PIRSF:PIRSF500455
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500455
GO:0007183
http://purl.org/obo/owl/GO#GO_0007183
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
A smad protein that mediates signal transduction through activation of transforming growth factor beta (TGF-beta) or activin pathways.
PMID:11532220
http://purl.org/obo/owl/PMID#PMID_11532220
activin receptor type-1
pro
ACVR1
ACVRLK2
ALK-2
SKR1
TSR-I
A TGF-beta superfamily receptor type-1 that is a translated product of ACVR1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
ACTR-I
activin receptor type-1B
pro
ALK-4
A TGF-beta superfamily receptor type-1 that is a translated product of ACVR1B gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
ACVR1B
activin receptor type-1C
pro
A TGF-beta superfamily receptor type-1 that is a translated product of ACVR1C gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
ACVR1C
activin receptor type-2A
GO:0032924 "participates_in [ISS] activin receptor signaling pathway".nGO:0048185 "has_function [ISS] activin binding".
pro
A TGF-beta superfamily receptor type-2 with activin receptor domain that is a translated product of ACVR2A gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0032924
http://purl.org/obo/owl/GO#GO_0032924
PIRSF:PIRSF500457
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500457
GO:0048185
http://purl.org/obo/owl/GO#GO_0048185
ACVR2A
activin receptor type-2B
GO:0032924 "participates_in [ISS] activin receptor signaling pathway".nGO:0048185 "has_function [ISS] activin binding".
pro
GO:0048185
http://purl.org/obo/owl/GO#GO_0048185
GO:0032924
http://purl.org/obo/owl/GO#GO_0032924
A TGF-beta superfamily receptor type-2 with activin receptor domain that is a translated product of ACVR2B gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
ActR-IIB
PIRSF:PIRSF500456
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500456
ACVR2B
activin/inhibin beta subunit
GO:0005102 "has_function [ISS] receptor binding".
pro
A TGF-beta-like cysteine-knot cytokine that is the beta subunit of inhibin and activin complexes. Related to the transforming growth factor-beta, anti-Muellerian hormone, and bone morphogenic protein families which are all involved in the regulation of cell growth and differentiation.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF037268
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037268
GO:0005102
http://purl.org/obo/owl/GO#GO_0005102
anti-Muellerian hormone
GO:0005102 "has_function [ISS] receptor binding".nGO:0005179 "has_function [ISS] hormone activity".nGO:0007548 "participates_in [ISS] sex differentiation".nGO:0008406 "participates_in [ISS] gonad development".
pro
A TGF-beta-like cysteine-knot cytokine that is a translation product of the AMH gene. Related to the transforming growth factor-beta, activin/inhibin, and bone morphogenic protein families which are all involved in the regulation of cell growth and differentiation.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Muellerian-inhibiting substance
MIS
Muellerian-inhibiting factor
GO:0008406
http://purl.org/obo/owl/GO#GO_0008406
GO:0007548
http://purl.org/obo/owl/GO#GO_0007548
GO:0005179
http://purl.org/obo/owl/GO#GO_0005179
GO:0005102
http://purl.org/obo/owl/GO#GO_0005102
PIRSF:PIRSF037270
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037270
AMH
anti-Muellerian hormone type-2 receptor isoform 1
GO:0001880 "participates_in Mullerian duct regression [PMID:14750901, TaxID:9606]".nGO:0004872 "has_function receptor activity [PMID:7493017, TaxID:9606]".nGO:0005071 "has_function transmembrane receptor protein serine/threonine kinase signaling protein activity [PMID:12462075, TaxID:9606]".nGO:0007165 "participates_in signal transduction [PMID:7493017, TaxID:9606]".nGO:0007548 "participates_in sex differentiation [PMID:12834017, TaxID:9606; PMID:8895659, TaxID:10090]".nGO:0042562 "has_function hormone binding [PMID:14750901, TaxID:9606; PMID:7493017, TaxID:9606]".
pro
GO:0001880
http://purl.org/obo/owl/GO#GO_0001880
GO:0004872
http://purl.org/obo/owl/GO#GO_0004872
GO:0005071
http://purl.org/obo/owl/GO#GO_0005071
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
GO:0007548
http://purl.org/obo/owl/GO#GO_0007548
GO:0042562
http://purl.org/obo/owl/GO#GO_0042562
An anti-Muellerian hormone type-2 receptor that is a translation product of a processed transcript of AMHR2 gene represented by the human sequence UniProtKB:Q16671.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
anti-Muellerian hormone type-2 receptor sequence variant 1
MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
An anti-Muellerian hormone type-2 receptor that is a translation product of the a polymorphic sequence variant of AMHR2 gene that has a Cys residue at the position equivalent to Arg-54 in human sequence UniProtKB:Q16671.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:261550
http://purl.org/obo/owl/MIM#MIM_261550
anti-Muellerian hormone type-2 receptor sequence variant 2
MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:261550
http://purl.org/obo/owl/MIM#MIM_261550
An anti-Muellerian hormone type-2 receptor that is a translation product of the a polymorphic sequence variant of AMHR2 gene that has a Val residue at the position equivalent to Gly-142 in human sequence UniProtKB:Q16671.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
anti-Muellerian hormone type-2 receptor sequence variant 3
MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:261550
http://purl.org/obo/owl/MIM#MIM_261550
A anti-Muellerian hormone type-2 receptor that is a translation product of the a polymorphic sequence variant of AMHR2 gene that has a Gln residue at the position equivalent to His-282 in human sequence UniProtKB:Q16671.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
anti-Muellerian hormone type-2 receptor sequence variant 4
MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:261550
http://purl.org/obo/owl/MIM#MIM_261550
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A anti-Muellerian hormone type-2 receptor that is a translation product of the a polymorphic sequence variant of AMHR2 gene that has a Gln residue at the position equivalent to Arg-406 in human sequence UniProtKB:Q16671.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
anti-Muellerian hormone type-2 receptor sequence variant 5
MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:261550
http://purl.org/obo/owl/MIM#MIM_261550
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A anti-Muellerian hormone type-2 receptor that is a translation product of the a polymorphic sequence variant of AMHR2 gene that has a Gly residue at the position equivalent to Asp-426 in human sequence UniProtKB:Q16671.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
anti-Muellerian hormone type-2 receptor sequence variant 6
MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A anti-Muellerian hormone type-2 receptor that is a translation product of the a polymorphic sequence variant of AMHR2 gene that has a Ala residue at the position equivalent to Val-458 in human sequence UniProtKB:Q16671.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:261550
http://purl.org/obo/owl/MIM#MIM_261550
anti-Muellerian hormone type-2 receptor sequence variant 7
MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A anti-Muellerian hormone type-2 receptor that is a translation product of the a polymorphic sequence variant of AMHR2 gene that has a His residue at the position equivalent to Asp-491 in human sequence UniProtKB:Q16671.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:261550
http://purl.org/obo/owl/MIM#MIM_261550
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
anti-Muellerian hormone type-2 receptor sequence variant 8
MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:261550
http://purl.org/obo/owl/MIM#MIM_261550
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A anti-Muellerian hormone type-2 receptor that is a translation product of the a polymorphic sequence variant of AMHR2 gene that has a Cys residue at the position equivalent to Arg-504 in human sequence UniProtKB:Q16671.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
anti-Muellerian hormone type-2 receptor sequence variant 9
SO:1000097 "has_agent mutation_causing_amino_acid_deletion".
pro
An anti-Muellerian hormone type-2 receptor that is a translation product of the AMHR2 gene with a mutation causing amino acid deletion at a position equivalent to region 444-452 in the human sequence UniProtKB:Q16671.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
c-myc protein
GO:0003700 "has_function [ISS] transcription factor activity".
pro
A myc protein that is a translation product of the MYC gene. The gene has 3 exons, with exon 1 lacking ATG codons.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
transcription factor p64
myc proto-oncogene protein
cartilage oligomeric matrix protein
pro
A thrombospondin subgroup B that is a translation product of the COMP gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
COMP
chordin isoform 1
GO:0001501 "participates_in skeletal development [PMID:9782094, TaxID:9606]".
pro
GO:0001501
http://purl.org/obo/owl/GO#GO_0001501
A chordin that is a translation product of a processed transcript of the CHRD gene, and that is the precursor with the signal peptide, one N-terminal and three C-terminal von Willebrand factor type C domains, and four chrd domains in between.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:10479448
http://purl.org/obo/owl/PMID#PMID_10479448
chordin isoform 2
Pfam:PF07452 "NOT has_part CHRD domain".nGO:0030514 "NOT participates_in negative regulation of BMP signaling pathway [PMID:11472837, TaxID:9606]".
pro
P-CR1
A chordin that is a translation product of a processed transcript of the CHRD gene that is a truncated protein with only the signal peptide and a partial N-terminal von Willebrand factor type C domain.
PMID:11472837
http://purl.org/obo/owl/PMID#PMID_11472837
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
chordin isoform 3
GO:0030514 "participates_in negative regulation of BMP signaling pathway [PMID:11472837, TaxID:9606]".
pro
GO:0030514
http://purl.org/obo/owl/GO#GO_0030514
A chordin that is a translation product of a processed transcript of the CHRD gene that is a truncated protein with the signal peptide, the N-terminal von Willebrand factor type C domain, and one partial chrd domain.
PMID:11472837
http://purl.org/obo/owl/PMID#PMID_11472837
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
chordin isoform 4
GO:0030514 "participates_in negative regulation of BMP signaling pathway [PMID:11472837, TaxID:9606]".
pro
A chordin that is a translation product of a processed transcript of the CHRD gene that is a truncated protein with the signal peptide, the N-terminal and only 1 C-terminal von Willebrand factor type C domain, and four chrd domains in between.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
CHRD sequence 4 cleaved-1
GO:0030514
http://purl.org/obo/owl/GO#GO_0030514
creb-binding protein
GO:0003713 "has_function transcription coactivator activity".
pro
A transcription adapter with TAZ, KIX and bromo-domains that is a translation product of the CREBBP gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
CREBBP
CBP
GO:0003713
http://purl.org/obo/owl/GO#GO_0003713
creb-binding protein/zinc finger protein HRX
pro
CBP/MORF
A creb-binding protein/zinc finger protein HRX product which consists of part of CREBBP gene at the N-terminus and part of MYST4 gene at the C-terminus. This form is observed in some cases of acute myelogenous leukemia where chromosomal translocation occurs.
PMID:11157802
http://purl.org/obo/owl/PMID#PMID_11157802
cullin 1
GO:0019005 "part_of [ISS] SCF ubiquitin ligase complex".nGO:0031146 "participates_in [ISS] SCF-dependent proteasomal ubiquitin-dependent protein catabolic process".
pro
GO:0031146
http://purl.org/obo/owl/GO#GO_0031146
CUL1
PANTHER:PTHR11932:SF19
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11932:SF19
A cullin that is a translation product of the CUL1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cyclin-dependent kinase 4 inhibitor
pro
A cyclin-dependent kinase inhibitor that is a translation product of the CDKN2B gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
p14-INK4b
p15-INK4b
PANTHER:PTHR18958:SF138
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR18958:SF138
CDKN2B
Multiple tumor suppressor 2
INK4
cyclin-dependent kinase 4 inhibitor B
decorin
GO:0009887 "participates_in [ISS] organ morphogenesis".
pro
bone proteoglycan 2
A class 1 small leucine-rich proteoglycan that is a translation product of the DCN gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0009887
http://purl.org/obo/owl/GO#GO_0009887
PG-S2
DCN
fas ligand
pro
Tumor necrosis factor ligand superfamily member 6
A tumor necrosis factor that is a translation product of the FASLG gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
FASLG
FAS antigen ligand
PANTHER:PTHR11471:SF7
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11471:SF7
follistatin isoform 1
GO:0007275 "participates_in multicellular organismal development".
pro
A follistatin that is a translation product of a processed transcript of the FST gene including all protein coding exons, and is the precursor of the mature protein.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007275
http://purl.org/obo/owl/GO#GO_0007275
follistatin isoform 2
pro
FS288
A follistatin that is a translation product of a processed transcript of the FST gene, without the C-terminal acidic region.
PMID:8340384
http://purl.org/obo/owl/PMID#PMID_8340384
growth/differentiation factor
pro
A TGF-beta-like cysteine-knot cytokine closely related to the BMP family. These are produced as dimeric precursors and undergo post-translational processing for activation, requiring cleavage to release bioactive the C-terminal peptide. GDFs act as signaling molecules during embryonic tendon/ligament formation.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
inhibitory smad protein
GO:0009968 "participates_in [ISS] negative regulation of signal transduction".nGO:0030512 "participates_in [ISS] negative regulation of transforming growth factor beta receptor signaling pathway".nGO:0030514 "participates_in [ISS] negative regulation of BMP signaling pathway".
pro
PIRSF:PIRSF500412
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500412
GO:0030512
http://purl.org/obo/owl/GO#GO_0030512
A smad protein that is an antagonist of the transforming growth factor beta (TGF-beta) superfamily signaling pathways. It lacks the C-terminal SSxS motif, necessary for receptor mediated phosphorylation that is present in the receptor-regulated smads.
PMID:11532220
http://purl.org/obo/owl/PMID#PMID_11532220
GO:0030514
http://purl.org/obo/owl/GO#GO_0030514
GO:0009968
http://purl.org/obo/owl/GO#GO_0009968
interferon gamma isoform 1
GO:0042742 "participates_in defense response to bacterium [PMID:17661079, TaxID:10090]".nGO:0045080 "participates_in positive regulation of chemokine biosynthetic process [PMID:12925700, TaxID:10090]".
pro
GO:0042742
http://purl.org/obo/owl/GO#GO_0042742
GO:0045080
http://purl.org/obo/owl/GO#GO_0045080
An interferon gamma that is a translation product of a processed transcript of IFNG gene represented by the human sequence UniProtKB:P01579.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
latent TGF-beta-binding protein 1
pro
LTBP1
short isoform
A latent TGF-beta-binding protein that is a translation product of the LTBP1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
lefty protein
GO:0007275 "participates_in [ISS] multicellular organismal development".
pro
PIRSF:PIRSF037402
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037402
GO:0007275
http://purl.org/obo/owl/GO#GO_0007275
A TGF-beta-like cysteine-knot cytokine that is an antagonist of nodal signaling. The nodal and lefty genes form positive and negative regulatory loops that resemble the reaction-diffusion system. As a pair, these genes control various events of vertebrate embryonic patterning, including left-right specification and mesoderm formation.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
mitogen-activated protein kinase 1
pro
A mitogen-activated protein kinase that is a translation product of the MAPK1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MAPK2
MAPK1
p38
<new synonym>
ERK-2
mitogen-activated protein kinase 3
pro
MAPK3
<new synonym>
ERK-1
A mitogen-activated protein kinase that is a translation product of the MAPK3 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
nodal protein
GO:0005515 "has_function [ISS] protein binding".nGO:0007368 "participates_in [ISS] determination of left/right symmetry".nGO:0016015 "has_function [ISS] morphogen activity".
pro
GO:0016015
http://purl.org/obo/owl/GO#GO_0016015
PIRSF:PIRSF037400
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037400
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
NODAL
GO:0007368
http://purl.org/obo/owl/GO#GO_0007368
A TGF-beta-like cysteine-knot cytokine that is a translation product of the NODAL gene. The nodal and lefty genes form positive and negative regulatory loops that resemble the reaction-diffusion system. As a pair, these genes control various events of vertebrate embryonic patterning, including left-right specification and mesoderm formation.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
noggin isoform 1
GO:0030509 "participates_in BMP signaling pathway [PMID:15110716, TaxID:10090]".
pro
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
A noggin protein that is a translation product of a processed transcript of the NOG gene, that is the precursor protein and it is represented by the human sequence UniProtKB:Q13253.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
noggin sequence variant 1
MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A noggin protein that is a translation product of the NOG gene that has a Ser residue at the position equivalent to Pro-35 in the human sequence UniProtKB:Q13253.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:185800
http://purl.org/obo/owl/MIM#MIM_185800
noggin sequence variant 10
MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A noggin protein that is a translation product of the NOG gene that has a Leu residue at the position equivalent to Pro-223 in the human sequence UniProtKB:Q13253.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:185800
http://purl.org/obo/owl/MIM#MIM_185800
noggin sequence variant 2
MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".nMIM:186570 "agent_in TARSAL-CARPAL COALITION SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:186570
http://purl.org/obo/owl/MIM#MIM_186570
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A noggin protein that is a translation product of the NOG gene that has an Arg residue at the position equivalent to Pro-35 in the human sequence UniProtKB:Q13253.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:185800
http://purl.org/obo/owl/MIM#MIM_185800
noggin sequence variant 3
MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A noggin protein that is a translation product of the NOG gene that has a Tyr residue at the position equivalent to Cys-184 in the human sequence UniProtKB:Q13253.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:185800
http://purl.org/obo/owl/MIM#MIM_185800
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
noggin sequence variant 4
MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A noggin protein that is a translation product of the NOG gene that has a Cys residue at the position equivalent to Gly-189 in the human sequence UniProtKB:Q13253.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:185800
http://purl.org/obo/owl/MIM#MIM_185800
noggin sequence variant 5
MIM:186570 "agent_in TARSAL-CARPAL COALITION SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:186570
http://purl.org/obo/owl/MIM#MIM_186570
A noggin protein that is a translation product of the NOG gene that has a Leu residue at the position equivalent to Arg-204 in the human sequence UniProtKB:Q13253.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
noggin sequence variant 6
MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:185800
http://purl.org/obo/owl/MIM#MIM_185800
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A noggin protein that is a translation product of the NOG gene that has a Gly residue at the position equivalent to Trp-217 in the human sequence UniProtKB:Q13253.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
noggin sequence variant 7
MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A noggin protein that is a translation product of the NOG gene that has a Asn residue at the position equivalent to Ile-220 in the human sequence UniProtKB:Q13253.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:185800
http://purl.org/obo/owl/MIM#MIM_185800
noggin sequence variant 8
MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".nMIM:186570 "agent_in TARSAL-CARPAL COALITION SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A noggin protein that is a translation product of the NOG gene that has a Cys residue at the position equivalent to Tyr-222 in the human sequence UniProtKB:Q13253.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:186570
http://purl.org/obo/owl/MIM#MIM_186570
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:185800
http://purl.org/obo/owl/MIM#MIM_185800
noggin sequence variant 9
MIM:185800 "agent_in SYMPHALANGISM, PROXIMAL".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A noggin protein that is a translation product of the NOG gene that has a Asp residue at the position equivalent to Tyr-222 in the human sequence UniProtKB:Q13253.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:185800
http://purl.org/obo/owl/MIM#MIM_185800
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
pituitary homeobox protein 2
pro
PITX2
A ptx homeobox protein that is a translation product of the PITX2 gene. The PITX2 gene contains 6 conserved exons.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
retinoblastoma-like protein 1
pro
A retinoblastoma-like protein that is a translation product of the RBL1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
RBL1
P107
retinoblastoma-like protein 2
pro
A retinoblastoma-like protein that is a translation product of the RBL2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
P130
RBL2
rho-associated protein kinase 1
pro
A rho-associated protein kinase that is a translation product of the ROCK1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
ROCK1
rho-associated protein kinase 2
pro
A rho-associated protein kinase that is a translation product of the ROCK2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
ROCK2
rho-related small GTPase
GO:0000902 "participates_in [ISS] cell morphogenesis".nGO:0003924 "has_function [ISS] GTPase activity".nGO:0005515 "has_function [ISS] protein binding".nGO:0005525 "has_function [ISS] GTP binding".nGO:0007264 "participates_in [ISS] small GTPase mediated signal transduction".nGO:0007266 "participates_in [ISS] Rho protein signal transduction".
pro
GO:0007264
http://purl.org/obo/owl/GO#GO_0007264
GO:0007266
http://purl.org/obo/owl/GO#GO_0007266
PIRSF:PIRSF037169
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037169
A small GTPase with a short insert (approximately 13 residues) coincident with loop 8 of Ras. This insert region forms a highly charged helix without dramatic disturbance of the global structure shared with other small GTPases. Rho-related small GTPases act as key transducers of extracellular signals to regulate the actin cytoskeleton, cell cycle progression and gene expression.
PMID:11463812
http://purl.org/obo/owl/PMID#PMID_11463812
GO:0000902
http://purl.org/obo/owl/GO#GO_0000902
GO:0003924
http://purl.org/obo/owl/GO#GO_0003924
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0005525
http://purl.org/obo/owl/GO#GO_0005525
ribosomal protein S6 kinase beta 1
pro
A ribosomal protein S6 kinase beta that is a translation product of the RPS6KB1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
RPS6KB1
ribosomal protein S6 kinase beta 2
pro
A ribosomal protein S6 kinase beta that is a translation product of the RPS6KB2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
RPS6KB2
sara
GO:0007179 "participates_in [ISS] transforming growth factor beta receptor signaling pathway".
pro
A smad anchor for receptor activation that is a translation product of the ZFYVE9 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SARA
ZFYVE9
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
serine/threonine-protein kinase receptor R3
pro
A TGF-beta superfamily receptor type-1 that is a translated product of ACVRL1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Activin receptor-like kinase 1
ALK-1
AVCL1
SKR3
TSR-I
smad ubiquitination regulatory factor
GO:0007398 "participates_in [ISS] ectoderm development".nGO:0009968 "participates_in [ISS] negative regulation of signal transduction".nGO:0042787 "participates_in [ISS] protein ubiquitination during ubiquitin-dependent protein catabolic process".
pro
GO:0042787
http://purl.org/obo/owl/GO#GO_0042787
PIRSF:PIRSF500454
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500454
A hect domain-containing E3 ubiquitin-protein ligase with ww domains that mediates smad ubiquitination.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0009968
http://purl.org/obo/owl/GO#GO_0009968
GO:0007398
http://purl.org/obo/owl/GO#GO_0007398
smad4
pro
Mothers against decapentaplegic homolog 4
A smad protein that is a translation product of the SMAD4 gene. It lacks the C-terminal SSxS motif, necessary for receptor mediated phosphorylation, that is present in the receptor-regulated smads.
PMID:10708949
http://purl.org/obo/owl/PMID#PMID_10708949
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF500408
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500408
thrombospondin 1
GO:0007179 "participates_in [ISS] transforming growth factor beta receptor signaling pathway".
pro
A thrombospondin subgroup A that is a translation product of the THBS1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
THBS1
PANTHER:PTHR10199:SF9
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR10199:SF9
thrombospondin 2
pro
A thrombospondin subgroup A that is a translation product of the THBS2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
THBS2
thrombospondin 3
pro
A thrombospondin subgroup B that is a translation product of the THBS3 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
THBS3
thrombospondin 4
pro
THSB4
A thrombospondin subgroup B that is a translation product of the THBS4 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
transcription factor Sp1
pro
PIRSF:PIRSF500820
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500820
PANTHER:PTHR23235:SF4
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR23235:SF4
transcription factor Sp1
A transcription factor Sp that is a translation product of the SP1 gene comprising the exons that code for an N-terminal inhibitory domain, two serine/threonine stretches adjacent to activation domains and three zinc fingers.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
tumor necrosis factor alpha
pro
TNF
A tumor necrosis factor that is a translation product of the TNF gene. Tumour necrosis factor alpha (TNF) is a pleiotropic cytokine that mediates apoptosis, cell proliferation, immunomodulation, inflammation, viral replication, allergy, arthritis, septic shock, insulin resistance, autoimmune diseases, and other pathological conditions. TNF transduces these cellular responses through two distinct receptors: type I, which are expressed on all cell types, and type II, which are expressed only on cells of the immune system and endothelial cells.
PMID:11053079
http://purl.org/obo/owl/PMID#PMID_11053079
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF500467
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500467
zinc finger protein HRX/creb-binding protein
pro
MORF/CBP
A creb-binding protein/zinc finger protein HRX product which consists of part of MYST4 gene at the N-terminus and part of CREBBP gene at the C-terminus. It includes the zinc fingers, 2 nuclear localization signals, the histone acetyltransferase (HAT) domain, a portion of the acidic domain of MYST4, and the zinc fingers, KIX domain, bromodomain and CREB-binding domain from CREBBP. This form is observed in some cases of acute myelogenous leukemia where chromosomal translocation occurs.
PMID:11157802
http://purl.org/obo/owl/PMID#PMID_11157802
BMP receptor type-1A isoform 1
GO:0016021 "located_in integral to membrane".nGO:0030509 "participates_in BMP signaling pathway [PMID:10814522, TaxID:10090]".nGO:0043235 "part_of receptor complex [PMID:15940369, TaxID:9606]".
pro
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0016021
http://purl.org/obo/owl/GO#GO_0016021
A BMP receptor type-1A that is a translation product of a processed transcript of the BMPR1A gene, represented by the human sequence UniProtKB:P36894.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP receptor type-1A sequence variant 1
MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A BMP receptor type-1A that is a translation product of the a polymorphic sequence variant of BMPR1A gene that has a Asp residue at the position equivalent to Tyr-62 in human sequence UniProtKB:P36894.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:174900
http://purl.org/obo/owl/MIM#MIM_174900
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
BMP receptor type-1A sequence variant 2
MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:174900
http://purl.org/obo/owl/MIM#MIM_174900
A BMP receptor type-1A that is a translation product of the a polymorphic sequence variant of BMPR1A gene that has a Tyr residue at the position equivalent to Cys-82 in human sequence UniProtKB:P36894.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP receptor type-1A sequence variant 3
MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:174900
http://purl.org/obo/owl/MIM#MIM_174900
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A BMP receptor type-1A that is a translation product of the a polymorphic sequence variant of BMPR1A gene that has a Arg residue at the position equivalent to Cys-124 in human sequence UniProtKB:P36894.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP receptor type-1A sequence variant 4
MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A BMP receptor type-1A that is a translation product of the a polymorphic sequence variant of BMPR1A gene that has a Arg residue at the position equivalent to Cys-130 in human sequence UniProtKB:P36894.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:174900
http://purl.org/obo/owl/MIM#MIM_174900
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
BMP receptor type-1A sequence variant 5
MIM:158350 "agent_in COWDEN DISEASE".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:158350
http://purl.org/obo/owl/MIM#MIM_158350
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A BMP receptor type-1A that is a translation product of the a polymorphic sequence variant of BMPR1A gene that has a Asp residue at the position equivalent to Ala-338 in human sequence UniProtKB:P36894.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP receptor type-1A sequence variant 6
MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:174900
http://purl.org/obo/owl/MIM#MIM_174900
A BMP receptor type-1A that is a translation product of the a polymorphic sequence variant of BMPR1A gene that has a Tyr residue at the position equivalent to Cys-376 in human sequence UniProtKB:P36894.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
BMP receptor type-1A sequence variant 7
MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:174900
http://purl.org/obo/owl/MIM#MIM_174900
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A BMP receptor type-1A that is a translation product of the a polymorphic sequence variant of BMPR1A gene that has a Cys residue at the position equivalent to Arg-443 in human sequence UniProtKB:P36894.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP receptor type-1A sequence variant 8
MIM:174900 "agent_in JUVENILE POLYPOSIS SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A BMP receptor type-1A that is a translation product of the a polymorphic sequence variant of BMPR1A gene that has a Thr residue at the position equivalent to Met-470 in human sequence UniProtKB:P36894.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:174900
http://purl.org/obo/owl/MIM#MIM_174900
BMP receptor type-1B isoform 1
GO:0001501 "participates_in skeletal development [PMID:14523231, TaxID:10090]".nGO:0001502 "participates_in cartilage condensation [PMID:14523231, TaxID:10090]".nGO:0009986 "located_in cell surface [PMID:10712517, TaxID:10090]".nGO:0030509 "participates_in BMP signaling pathway [PMID:10051328, TaxID:9606]".nGO:0035108 "participates_in limb morphogenesis [PMID:14523231, TaxID:10090]".
pro
GO:0001501
http://purl.org/obo/owl/GO#GO_0001501
A BMP receptor type-1B that is a translation product of a processed transcript of the BMPR1B gene, represented by the human sequence UniProtKB:O00238.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0001502
http://purl.org/obo/owl/GO#GO_0001502
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0035108
http://purl.org/obo/owl/GO#GO_0035108
BMP receptor type-1B sequence variant 1
GO:0004674 "NOT has_function protein serine/threonine kinase activity [PMID:14523231, TaxID:9606]".nGO:0009986 "located_in cell surface [PMID:14523231, TaxID:9606]".nMIM:112600 "agent_in BRACHYDACTYLY, TYPE A2".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:112600
http://purl.org/obo/owl/MIM#MIM_112600
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
A BMP receptor type-1B that is a translation product of the a polymorphic sequence variant of BMPR1B gene that has a Lys residue at the position equivalent to Ile-200 in human sequence UniProtKB:O00238.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP receptor type-1B sequence variant 2
GO:0004674 "has_function protein serine/threonine kinase activity [PMID:14523231, TaxID:9606]".nGO:0009986 "located_in cell surface [PMID:14523231, TaxID:9606]".nMIM:112600 "agent_in BRACHYDACTYLY, TYPE A2".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
GO:0004674
http://purl.org/obo/owl/GO#GO_0004674
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
MIM:112600
http://purl.org/obo/owl/MIM#MIM_112600
A BMP receptor type-1B that is a translation product of the a polymorphic sequence variant of BMPR1B gene that has a Trp residue at the position equivalent to Arg-486 in human sequence UniProtKB:O00238.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
BMP receptor type-2 isoform 1
GO:0005515 "has_function protein binding [PMID:7791754, TaxID:9606]".nGO:0005887 "located_in integral to plasma membrane [PMID:7791754, TaxID:9606]".nGO:0007178 "participates_in transmembrane receptor protein serine/threonine kinase signaling pathway [PMID:7644468, TaxID:9606]".nGO:0009986 "located_in cell surface [PMID:12117821, TaxID:10090; PMID:10712517, TaxID:9606]".nGO:0030509 "participates_in BMP signaling pathway [PMID:12117821, TaxID:10090]".nGO:0043235 "part_of receptor complex [PMID:7791754, TaxID:9606]".
pro
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
GO:0007178
http://purl.org/obo/owl/GO#GO_0007178
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
A BMP receptor type-2 that is a translation product of a processed transcript of the BMPR2 gene represented by the human sequence UniProtKB:Q13873.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
BMP receptor type-2 sequence variant 1
MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A BMP receptor type-2 that is a translation product of the a polymorphic sequence variant of BMPR2 gene that has a Tyr residue at the position equivalent to Cys-60 in human sequence UniProtKB:Q13873.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:178600
http://purl.org/obo/owl/MIM#MIM_178600
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
BMP receptor type-2 sequence variant 10
MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:178600
http://purl.org/obo/owl/MIM#MIM_178600
A BMP receptor type-2 that is a translation product of the a polymorphic sequence variant of BMPR2 gene that has a Gly residue at the position equivalent to Asp-485 in human sequence UniProtKB:Q13873.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP receptor type-2 sequence variant 11
MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:178600
http://purl.org/obo/owl/MIM#MIM_178600
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A BMP receptor type-2 that is a translation product of the a polymorphic sequence variant of BMPR2 gene that has a Gln residue at the position equivalent to Arg-491 in human sequence UniProtKB:Q13873.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP receptor type-2 sequence variant 12
MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A BMP receptor type-2 that is a translation product of the a polymorphic sequence variant of BMPR2 gene that has a Trp residue at the position equivalent to Arg-491 in human sequence UniProtKB:Q13873.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:178600
http://purl.org/obo/owl/MIM#MIM_178600
BMP receptor type-2 sequence variant 13
MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:178600
http://purl.org/obo/owl/MIM#MIM_178600
A BMP receptor type-2 that is a translation product of the a polymorphic sequence variant of BMPR2 gene that has a Thr residue at the position equivalent to Lys-512 in human sequence UniProtKB:Q13873.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP receptor type-2 sequence variant 14
MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:178600
http://purl.org/obo/owl/MIM#MIM_178600
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A BMP receptor type-2 that is a translation product of the a polymorphic sequence variant of BMPR2 gene that has a Lys residue at the position equivalent to Asn-519 in human sequence UniProtKB:Q13873.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP receptor type-2 sequence variant 2
MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:178600
http://purl.org/obo/owl/MIM#MIM_178600
A BMP receptor type-2 that is a translation product of the a polymorphic sequence variant of BMPR2 gene that has a Tyr residue at the position equivalent to Cys-117 in human sequence UniProtKB:Q13873.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP receptor type-2 sequence variant 3
MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:178600
http://purl.org/obo/owl/MIM#MIM_178600
A BMP receptor type-2 that is a translation product of the a polymorphic sequence variant of BMPR2 gene that has a Trp residue at the position equivalent to Cys-118 in human sequence UniProtKB:Q13873.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP receptor type-2 sequence variant 4
MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A BMP receptor type-2 that is a translation product of the a polymorphic sequence variant of BMPR2 gene that has a Arg residue at the position equivalent to Cys-123 in human sequence UniProtKB:Q13873.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:178600
http://purl.org/obo/owl/MIM#MIM_178600
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
BMP receptor type-2 sequence variant 5
MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:178600
http://purl.org/obo/owl/MIM#MIM_178600
A BMP receptor type-2 that is a translation product of the a polymorphic sequence variant of BMPR2 gene that has a Ser residue at the position equivalent to Cys-123 in human sequence UniProtKB:Q13873.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
BMP receptor type-2 sequence variant 6
MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A BMP receptor type-2 that is a translation product of the a polymorphic sequence variant of BMPR2 gene that has a Asp residue at the position equivalent to Glu-224 in human sequence UniProtKB:Q13873.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:178600
http://purl.org/obo/owl/MIM#MIM_178600
BMP receptor type-2 sequence variant 7
MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:178600
http://purl.org/obo/owl/MIM#MIM_178600
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A BMP receptor type-2 that is a translation product of the a polymorphic sequence variant of BMPR2 gene that has a Tyr residue at the position equivalent to Cys-347 in human sequence UniProtKB:Q13873.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP receptor type-2 sequence variant 8
MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A BMP receptor type-2 that is a translation product of the a polymorphic sequence variant of BMPR2 gene that has an Arg residue at the position equivalent to Cys-420 in human sequence UniProtKB:Q13873.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:178600
http://purl.org/obo/owl/MIM#MIM_178600
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
BMP receptor type-2 sequence variant 9
MIM:178600 "agent_in PULMONARY HYPERTENSION, PRIMARY".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:178600
http://purl.org/obo/owl/MIM#MIM_178600
A BMP receptor type-2 that is a translation product of the a polymorphic sequence variant of BMPR2 gene that has a Arg residue at the position equivalent to Cys-483 in human sequence UniProtKB:Q13873.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP10
pro
bone morphogenetic protein 10
PANTHER:PTHR11848:SF39
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11848:SF39
A BMP that is a translation product of the BMP10 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP2
GO:0001501 "participates_in [ISS] skeletal development".nGO:0007267 "participates_in [ISS] cell-cell signaling".nGO:0030509 "participates_in [ISS] BMP signaling pathway".
pro
PANTHER:PTHR11848:SF50
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11848:SF50
bone morphogenetic protein 2
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0007267
http://purl.org/obo/owl/GO#GO_0007267
A BMP that is a translation product of the BMP2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0001501
http://purl.org/obo/owl/GO#GO_0001501
BMP4
GO:0001501 "participates_in skeletal development [PMID:15936012, TaxID:10090; PMID:14654219, TaxID:10090]".nGO:0030509 "participates_in BMP signaling pathway [14623234, TaxID:10090]".
pro
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
PANTHER:PTHR11848:SF49
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11848:SF49
GO:0001501
http://purl.org/obo/owl/GO#GO_0001501
A BMP that is a translation product of the BMP4 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
bone morphogenetic protein 4
BMP-2B
BMP5
GO:0001501 "participates_in skeletal development [PMID:2263636, TaxID:10090]".
pro
A BMP that is a translation product of the BMP5 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0001501
http://purl.org/obo/owl/GO#GO_0001501
bone morphogenetic protein 5
BMP6
pro
bone morphogenetic protein 6
A BMP that is a translation product of the BMP6 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PANTHER:PTHR11848:SF55
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11848:SF55
BMP7
GO:0007435 "paticipates_in salivary gland morphogenesis [PMID:11731698, TaxID:10090]".nGO:0009887 "participates_in organ morphogenesis [PMID:7590254, TaxID:10090]".nGO:0035239 "participates_in tube morphogenesis [PMID:15831470, TaxID:10090]".nGO:0042475 "participates_in odontogenesis of dentine-containing tooth [PMID:15525533, TaxID:10090]".nGO:0048754 "participates_in branching morphogenesis of a tube [PMID:15831470, TaxID:10090]".
pro
GO:0042475
http://purl.org/obo/owl/GO#GO_0042475
GO:0035239
http://purl.org/obo/owl/GO#GO_0035239
GO:0009887
http://purl.org/obo/owl/GO#GO_0009887
bone morphogenetic protein 7
<new synonym>
GO:0048754
http://purl.org/obo/owl/GO#GO_0048754
osteogenic protein-1
OP-1
A BMP that is a translation product of the BMP7 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP8A
pro
bone morphogenetic protein 8A
A BMP that is a translation product of the BMP8A gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP8B
pro
bone morphogenetic protein 8B
A BMP that is a translation product of the BMP8B gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
DNA-binding protein inhibitor ID-1 isoform 1
GO:0005515 "has_function protein binding [Q03135, PMID:17855368, TaxID:9606]".nGO:0005737 "located_in cytoplasm [PMID:17855368, TaxID:9606]".nGO:0051897 "participates_in positive regulation of protein kinase B signaling cascade [PMID:17855368, TaxID:9606]".
pro
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
A DNA-binding protein inhibitor ID-1 that is a translation product of a processed transcript of the ID1 gene including all protein coding exons, as in the human sequence UniProtKB:P41134-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0051897
http://purl.org/obo/owl/GO#GO_0051897
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
ID-A
DNA-binding protein inhibitor ID-1 isoform 2
pro
A DNA-binding protein inhibitor ID-1 that is a translation product of a processed transcript of the ID1 gene including only the first coding exon and extending to the first stop codon, as in the human sequence UniProtKB:P41134-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
ID-B
DNA-binding protein inhibitor ID-2 isoform 1
GO:0005634 "located_in nucleus [PMID:12878164, TaxID:10090]".nGO:0005737 "located_in cytoplasm [PMID:15563451, TaxID:10090; PMID:12878164, TaxID:10090; PMID:11706002, TaxID:10116]".nGO:0007275 "participates_in multicellular organismal development".nGO:0016481 "participates_in negative regulation of transcription [PMID:14627819, TaxID:9606]".nGO:0016564 "has_function transcription repressor activity [PMID:14627819, TaxID:9606]".nGO:0046983 "has_function protein dimerization activity [PMID:10891368, TaxID:10090]".
pro
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
GO:0007275
http://purl.org/obo/owl/GO#GO_0007275
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0046983
http://purl.org/obo/owl/GO#GO_0046983
GO:0016564
http://purl.org/obo/owl/GO#GO_0016564
GO:0016481
http://purl.org/obo/owl/GO#GO_0016481
A DNA-binding protein inhibitor ID-2 that is a translation product of a processed transcript of the ID2 gene, and that contains a HLH domain and a C-terminal nuclear export signal, as in the human sequence UniProtKB:Q02363.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
DNA-binding protein inhibitor ID-3 isoform 1
GO:0000122 "participates_in negative regulation of transcription from RNA polymerase II promoter [PMID:2000388, TaxID:10090]".nGO:0003714 "has_function transcription corepressor activity [PMID:8437843, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:15451666, TaxID:10090]".nGO:0007275 "participates_in multicellular organismal development [PMID:1628620, TaxID:9606]".nGO:0016481 "participates_in negative regulation of transcription [PMID:8437843, TaxID:9606]".nGO:0046983 "has_function protein dimerization activity".
pro
GO:0003714
http://purl.org/obo/owl/GO#GO_0003714
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0007275
http://purl.org/obo/owl/GO#GO_0007275
GO:0016481
http://purl.org/obo/owl/GO#GO_0016481
GO:0000122
http://purl.org/obo/owl/GO#GO_0000122
A DNA-binding protein inhibitor ID-3 that is a translation product of a processed transcript of the ID3 gene represented by the human sequence UniProtKB:Q02535.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0046983
http://purl.org/obo/owl/GO#GO_0046983
DNA-binding protein inhibitor ID-4 isoform 1
GO:0016481 "participates_in negative regulation of transcription [PMID:11136250, TaxID:9606; PMID:8139914, TaxID:10090]".nGO:0045665 "participates_in negative regulation of neuron differentiation [PMID:15882580, TaxID:10090]".nGO:0008284 "participates_in positive regulation of cell proliferation [PMID:15882580, TaxID:10090]".nGO:0005737 "located_in cytoplasm [PMID:15280210, TaxID:10090]".nGO:0005515 "has_function protein binding [Q9JKN5, PMID:15280210, TaxID:10090; Q9EQW6, PMID:15280210, TaxID:10090]".nGO:0030509 "participates_in BMP signaling pathway [PMID:15280210, TaxID:10090]".
pro
GO:0045665
http://purl.org/obo/owl/GO#GO_0045665
GO:0016481
http://purl.org/obo/owl/GO#GO_0016481
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
GO:0008284
http://purl.org/obo/owl/GO#GO_0008284
A DNA-binding protein inhibitor ID-4 that is a translation product of a processed transcript of the ID4 gene represented by the human sequence UniProtKB:P47928.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GTP-binding protein RhoA
GO:0003924 "has_function [ISS] GTPase activity".nGO:0007266 "participates_in [ISS] Rho protein signal transduction".
pro
A rho-related small GTPase that is a translation product of the RHOA gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
RHOA
GO:0007266
http://purl.org/obo/owl/GO#GO_0007266
GO:0003924
http://purl.org/obo/owl/GO#GO_0003924
RING-box protein 1 isoform 1
GO:0005515 "has_function protein binding [PMID:11961546, TaxID:9606; PMID:11027288, TaxID:9606]".nGO:0006511 "participates_in ubiquitin-dependent protein catabolic process [PMID:10230407, TaxID:9606]".nGO:0006606 "participates_in protein import into nucleus [PMID:11027288, TaxID:9606]".nGO:0019005 "part_of SCF ubiquitin ligase complex [PMID:15966899]".nGO:0031462 "part_of Cul2-RING ubiquitin ligase complex [PMID:15966899]".nGO:0045116 "participates_in protein neddylation [PMID:15966899]".
pro
A RING-box protein 1 that is a translation product of a processed transcript of the RBX1 gene, comprising the core domains, as in the human sequence UniProtKB:P62877.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0006511
http://purl.org/obo/owl/GO#GO_0006511
GO:0006606
http://purl.org/obo/owl/GO#GO_0006606
GO:0045116
http://purl.org/obo/owl/GO#GO_0045116
RING-box protein 2 isoform 1
GO:0000151 "part_of ubiquitin ligase complex [PMID:16325183; PMID:17217622]".nGO:0005634 "located_in nucleus [PMID:10082581, TaxID:10090]".nGO:0005737 "located_in cytoplasm [PMID:10082581, TaxID:10090]".nGO:0008631 "participates_in induction of apoptosis by oxidative stress [PMID:10082581, TaxID:10090]".
pro
GO:0008631
http://purl.org/obo/owl/GO#GO_0008631
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
A RING-box protein 2 that is a translation product of a processed transcript of the RNF7 gene, comprising the core domains, as in the human sequence UniProtKB:Q9UBF6-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
RING-box protein 2 isoform 2
Pfam:PF00097 "NOT has_part Zinc finger, C3HC4 type".nGO:0000151 "NOT part_of ubiquitin ligase complex [PMID:11506706, TaxID:9606]".
pro
SAG-v
A RING-box protein 2 that is a translation product of a processed transcript of the RNF7 gene, that lacks the RING-finger domain because it has an alternative exon 2.
PMID:11506706
http://purl.org/obo/owl/PMID#PMID_11506706
S-phase kinase-associated protein 1A isoform 1
GO:0019005 "has_function SCF ubiquitin ligase complex [PMID:11961546, TaxID:9606; PMID:12481031, TaxID:9606; PMID:12665572, TaxID:10090; PMID:16797541, TaxID:9606; PMID:17098746, TaxID:9606]".nGO:0005515 "has_function protein binding [P63087-1, PMID:17274640, TaxID:10090; P62137, PMID:17274640, TaxID:10090; Q13616, PMID:12609982, TaxID:9606]".
pro
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0019005
http://purl.org/obo/owl/GO#GO_0019005
A S-phase kinase-associated protein 1A that is a translation product of a processed transcript of the SKP1 gene including the five coding exons, as in the human sequence UniProtKB:P63208-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
S-phase kinase-associated protein 1A isoform 2
pro
A S-phase kinase-associated protein 1A 1 that is a translation product of a processed transcript of the SKP1 gene lacking the most 3' coding exon, as in the human sequence UniProtKB:P63208-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 1
pro
A TGF-beta that is a translation product of the TGFB1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PANTHER:PTHR11848:SF32
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11848:SF32
transforming growth factor beta 1
TGF-beta 2
pro
TGFB2
transforming growth factor beta 2
PANTHER:PTHR11848:SF33
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11848:SF33
A TGF-beta that is a translation product of the TGFB2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 3
pro
A TGF-beta that is a translation product of the TGFB3 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PANTHER:PTHR11848:SF34
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11848:SF34
TGFB3
transforming growth factor beta 3
TGF-beta receptor type-1 isoform 1
GO:0007165 "participates_in signal transduction [PMID:8242743]".
pro
A TGF-beta receptor type-1 that is a translation product of a processed transcript of the TGFBR1 gene, and that contains an extracellular activin types I and II receptor domain, a transmembrane domain, and an intracellular GS-motif and protein kinase domain, as in the human sequence UniProtKB:P36897.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
TGF-beta receptor type-1 sequence variant 1
MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:609192
http://purl.org/obo/owl/MIM#MIM_609192
A TGF-beta receptor type-1 that is a translation product of the a polymorphic sequence variant of TGFBR1 gene that has an Ile residue at the position equivalent to Thr-200 in the human sequence UniProtKB:P36897.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
TGF-beta receptor type-1 sequence variant 10
SO:1000096 "mutation_causing_amino_acid_insertion".
pro
SO:1000096
http://purl.org/obo/owl/SO#SO_1000096
A TGF-beta receptor type-1 that is a translation product of the a polymorphic sequence variant of TGFBR1 gene that has an insertion of an Ala residue at the position equivalent to Ala-26 in the human sequence UniProtKB:P36897.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGFBR1*10A
TGF-beta receptor type-1 sequence variant 11
GO:0007165 "participates_in signal transduction [PMID:9661882, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:9661882]".nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
pro
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
TGFBR1*6A
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
A TGF-beta receptor type-1 that is a translation product of the TGFBR1 gene with a mutation causing amino acid deletion at a position equivalent to region 24-26 in the human sequence UniProtKB:P36897.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-1 sequence variant 2
MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A TGF-beta receptor type-1 that is a translation product of the a polymorphic sequence variant of TGFBR1 gene that has a Glu residue at the position equivalent to Lys-232 in the human sequence UniProtKB:P36897.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:609192
http://purl.org/obo/owl/MIM#MIM_609192
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
TGF-beta receptor type-1 sequence variant 3
MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".nMIM:610168 "agent_in FURLONG SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A TGF-beta receptor type-1 that is a translation product of the a polymorphic sequence variant of TGFBR1 gene that has a Leu residue at the position equivalent to Ser-241 in the human sequence UniProtKB:P36897.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:609192
http://purl.org/obo/owl/MIM#MIM_609192
MIM:610168
http://purl.org/obo/owl/MIM#MIM_610168
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
TGF-beta receptor type-1 sequence variant 4
MIM:154705 "agent_in MARFAN SYNDROME, TYPE II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:154705
http://purl.org/obo/owl/MIM#MIM_154705
A TGF-beta receptor type-1 that is a translation product of the a polymorphic sequence variant of TGFBR1 gene that has a His residue at the position equivalent to Asn-267 in the human sequence UniProtKB:P36897.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-1 sequence variant 5
MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:609192
http://purl.org/obo/owl/MIM#MIM_609192
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A TGF-beta receptor type-1 that is a translation product of the a polymorphic sequence variant of TGFBR1 gene that has a Arg residue at the position equivalent to Met-318 in the human sequence UniProtKB:P36897.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-1 sequence variant 6
MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:609192
http://purl.org/obo/owl/MIM#MIM_609192
A TGF-beta receptor type-1 that is a translation product of the a polymorphic sequence variant of TGFBR1 gene that has a Gly residue at the position equivalent to Asp-400 in the human sequence UniProtKB:P36897.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-1 sequence variant 7
MIM:130050 "agent_in EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A TGF-beta receptor type-1 that is a translation product of the a polymorphic sequence variant of TGFBR1 gene that has a Pro residue at the position equivalent to Arg-487 in the human sequence UniProtKB:P36897.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:130050
http://purl.org/obo/owl/MIM#MIM_130050
TGF-beta receptor type-1 sequence variant 8
MIM:609192 "agent_in LOEYS-DIETZ SYNDROME".nMIM:610380 "agent_in AORTIC ANEURYSM, FAMILIAL THORACIC 5".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A TGF-beta receptor type-1 that is a translation product of the a polymorphic sequence variant of TGFBR1 gene that has a Glu residue at the position equivalent to Arg-487 in the human sequence UniProtKB:P36897.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:610380
http://purl.org/obo/owl/MIM#MIM_610380
MIM:609192
http://purl.org/obo/owl/MIM#MIM_609192
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
TGF-beta receptor type-1 sequence variant 9
MIM:130050 "agent_in EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:130050
http://purl.org/obo/owl/MIM#MIM_130050
A TGF-beta receptor type-1 that is a translation product of the a polymorphic sequence variant of TGFBR1 gene that has a Trp residue at the position equivalent to Arg-487 in the human sequence UniProtKB:P36897.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-2 isoform 1 cleaved form
pro
A TGF-beta receptor type-2 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-2 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A TGFBR2 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
activin receptor type-1 isoform 1
pro
An activin receptor type-1 that is a translation product of a processed transcript of the ACVR1 gene, and that contains an extracellular activin types I and II receptor domain, a transmembrane domain, and an intracellular GS-motif and protein kinase domain. This form is represented by the human sequence UniProtKB:Q04771.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
activin receptor type-1 sequence variant 1
GO:0005887 "located_in integral to plasma membrane [PMID:8397373, TaxID:9606]".nMIM:135100 "agent_in FIBRODYSPLASIA OSSIFICANS PROGRESSIVA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
An activin receptor type-1 that is a translation product of the a polymorphic sequence variant of ACVR1 gene and has a His residue in the GS-motif at a position equivalent to amino acid Arg-206 in human sequence UniProtKB:Q04771.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
MIM:135100
http://purl.org/obo/owl/MIM#MIM_135100
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
activin receptor type-1B isoform 1
GO:0007178 "participates_in transmembrane receptor protein serine/threonine kinase signaling pathway".
pro
GO:0007178
http://purl.org/obo/owl/GO#GO_0007178
SKR2-1
Alk4-1
An activin receptor type-1B that is a translation product of a processed transcript of the ACVR1B gene, and that contains an extracellular activin types I and II receptor domain, a transmembrane domain, and an intracellular GS-motif and protein kinase domain. This form is represented by the human sequence UniProtKB:P36896-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
activin receptor type-1B isoform 2
GO:0005887 "located_in integral to plasma membrane [PMID:8636304, TaxID:9606; PMID:11117535, TaxID:9606]".nGO:0016361 "NOT has_function activin receptor activity, type I [PMID:8636304, TaxID:9606; PMID:11117535, TaxID:9606]".
pro
Alk4-2
SKR2-2
An activin receptor type-1B that is a translation product of a processed transcript of the ACVR1B gene that contains an alternative exon 10 (10b) and lacks exon 11, as compared to isoform 1 (PRO:000000201), rendering an receptor with a truncated kinase domain and a unique C-terminal tail as in human sequence UniProKB:P36896-2. Predominantly expressed in pituitary adenomas.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:11117535
http://purl.org/obo/owl/PMID#PMID_11117535
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
activin receptor type-1B isoform 3
GO:0005887 "located_in integral to plasma membrane [PMID:8636304, TaxID:9606; PMID:11117535, TaxID:9606]".nGO:0016361 "NOT has_function activin receptor activity, type I [PMID:8636304, TaxID:9606; PMID:11117535, TaxID:9606]".
pro
Alk4-3
SKR2-3
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
An activin receptor type-1B that is a translation product of a processed transcript of the ACVR1B gene that contains an alternative exon 9 (9b) and lacks exons 10 and 11, as compared to isoform 1 (PRO:000000201), rendering an receptor with a truncated kinase domain and a unique C-terminal tail as in human sequence UniProKB:P36896-3. Predominantly expressed in pituitary adenomas.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:11117535
http://purl.org/obo/owl/PMID#PMID_11117535
activin receptor type-1C isoform 1
pro
An activin receptor type-1C that is a translation product of a processed transcript of the ACVR1C gene, and that contains an extracellular activin types I and II receptor domain, a transmembrane domain, and an intracellular GS-motif and protein kinase domain. This form is represented by the human sequence UniProtKB:Q8NER5-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
activin receptor type-1C isoform 2
pro
An activin receptor type-1C that is a translation product of a processed transcript of the ACVR1C gene, and that lacks the transmembrane domain as in the human sequence UniProtKB:Q8NER5-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:12606401
http://purl.org/obo/owl/PMID#PMID_12606401
Isoform A
activin receptor type-1C isoform 3
pro
Isoform B
An activin receptor type-1C that is a translation product of a processed transcript of the ACVR1C gene, and that lacks the transmembrane domain as in the human sequence UniProtKB:Q8NER5-3.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:12606401
http://purl.org/obo/owl/PMID#PMID_12606401
activin receptor type-1C isoform 4
GO:0005887 "located_in integral to plasma membrane [PMID:12606401, TaxID:9606]".
pro
An activin receptor type-1C that is a translation product of a processed transcript of the ACVR1C gene, and that has a partial deletion of the extracellular activin types I and II receptor domain as in the human sequence UniProtKB:Q8NER5-4.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:12606401
http://purl.org/obo/owl/PMID#PMID_12606401
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
activin receptor type-2A isoform 1
GO:0007178 "participates_in transmembrane receptor protein serine/threonine kinase signaling pathway".
pro
An activin receptor type-2A that is a translation product of a processed transcript of the ACVR2A gene, and that contains an extracellular activin types I and II receptor domain, a transmembrane domain, and an intracellular protein kinase domain. This form is represented by the human sequence UniProtKB:P27037.
PMID:8395525
http://purl.org/obo/owl/PMID#PMID_8395525
GO:0007178
http://purl.org/obo/owl/GO#GO_0007178
activin receptor type-2B isoform 1
GO:0007178 "participates_in transmembrane receptor protein serine/threonine kinase signaling pathway".
pro
ActR-IIB2
An activin receptor type-2B that is a translation product of a processed transcript of the ACVR2B gene, and that contains the cluster of proline residues in the extracellular domain located immediately before the transmembrane region (known as splicing cassette I), but lacks the intracellular segment rich in basic and acidic residues (known as splicing cassette II), located preceding a proline-rich sequence between the transmembrane region and the kinase domain.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007178
http://purl.org/obo/owl/GO#GO_0007178
activin receptor type-2B isoform 2
GO:0016362 "NOT has_function activin receptor activity, type II [PMID: 9916847, TaxID:9606]".nSO:1000098 "has_agent mutation_causing_polypeptide_truncation [PMID: 9916847, TaxID:9606]".
pro
SO:1000098
http://purl.org/obo/owl/SO#SO_1000098
ActR-IIB1
An activin receptor type-2B that is a translation product of a processed transcript of the ACVR2B gene, and that contains the cluster of proline residues in the extracellular domain located immediately before the transmembrane region (known as splicing cassette I), and the intracellular segment (known as splicing cassette II) with an insertion and frameshift that leads to protein truncation. This form may have dominant-negative properties and is represented by the human sequence UniProtKB:Q13705-2.
PMID:9916847
http://purl.org/obo/owl/PMID#PMID_9916847
activin receptor type-2B isoform 3
GO:0005887 "located_in integral to plasma membrane [PMID:1310075, TaxID:10090]".nGO:0048179 "part_of activin receptor complex [PMID:1310075, TaxID:10090]".
pro
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
An activin receptor type-2B that is a translation product of a processed transcript of the ACVR2B gene, and that contains the cluster of proline residues of the extracellular domain located immediately before the transmembrane region (known as splicing cassette I), and the intracellular segment rich in basic and acidic residues (known as splicing cassette II), located preceding a proline-rich sequence between the transmembrane region and the kinase domain.
PMID:1310075
http://purl.org/obo/owl/PMID#PMID_1310075
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
activin receptor type-2B isoform 4
GO:0005887 "located_in integral to plasma membrane [PMID:1310075, TaxID:10090]".nGO:0048179 "part_of activin receptor complex [PMID:1310075, TaxID:10090]".
pro
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
An activin receptor type-2B that is a translation product of a processed transcript of the ACVR2B gene, that lacks the cluster of proline residues of the extracellular domain located immediately before the transmembrane region (known as splicing cassette I), but includes the intracellular segment rich in basic and acidic residues (known as splicing cassette II), located preceding a proline-rich sequence between the transmembrane region and the kinase domain.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
activin receptor type-2B isoform 5
GO:0005887 "located_in integral to plasma membrane [PMID:1310075, TaxID:10090]".nGO:0048179 "part_of activin receptor complex [PMID:1310075, TaxID:10090]".
pro
An activin receptor type-2B that is a translation product of a processed transcript of the ACVR2B gene, that lacks both the cluster of proline residues of the extracellular domain located immediately before the transmembrane region (known as splicing cassette I), and the intracellular segment rich in basic and acidic residues (known as splicing cassette II), located preceding a proline-rich sequence between the transmembrane region and the kinase domain.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
activin receptor type-2B sequence variant 1
MIM:602730 "agent_in LEFT-RIGHT AXIS MALFORMATIONS [PMID:9916847, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
An activin receptor type-2B that is a translation product of the a polymorphic sequence variant of ACVR2B gene that has a His residue at the position equivalent to Arg-40 of the extracellular domain in the human sequence UniProtKB:Q13705-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:602730
http://purl.org/obo/owl/MIM#MIM_602730
activin receptor type-2B sequence variant 2
MIM:602730 "agent_in LEFT-RIGHT AXIS MALFORMATIONS [PMID:9916847, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:602730
http://purl.org/obo/owl/MIM#MIM_602730
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
An activin receptor type-2B that is a translation product of the a polymorphic sequence variant of ACVR2B gene that has an Ile residue at the position equivalent to Val-494 in the human sequence UniProtKB:Q13705-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
activin/inhibin beta A chain
pro
PANTHER:PTHR11848:SF28
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11848:SF28
INHBA
An activin/inhibin beta subunit that is a translation product of the INHBA gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
activin/inhibin beta B chain
pro
INHBB
An activin/inhibin beta subunit that is a translation product of the INHBB gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PANTHER:PTHR11848:SF29
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11848:SF29
activin/inhibin beta C chain
pro
An activin/inhibin beta subunit that is a translation product of the INHBC gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PANTHER:PTHR11848:SF26
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11848:SF26
activin beta subunit C
activin/inhibin beta E chain
pro
PANTHER:PTHR11848:SF6
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11848:SF6
An activin/inhibin beta subunit that is a translation product of the INHBE gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
INHBE
anti-Muellerian hormone isoform 1
GO:0001880 "participates_in Mullerian duct regression [PMID:14750901, TaxID:9606]".nGO:0007548 "participates_in sex differentiation [PMID:12834017, TaxID:9606]".
pro
An anti-Muellerian hormone that is a translation product of a processed transcript of the AMH gene, and that contains a signal peptide, anti-Mullerian hormone N-terminal domain and a TGF-beta-like cysteine knot domain, as in the human sequence represented by the human sequence UniProtKB:P27106. This form is the precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF037270
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037270
GO:0001880
http://purl.org/obo/owl/GO#GO_0001880
GO:0007548
http://purl.org/obo/owl/GO#GO_0007548
AMH
anti-Muellerian hormone sequence variant 1
MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:261550
http://purl.org/obo/owl/MIM#MIM_261550
An anti-Muellerian hormone that is a translation product of the a polymorphic sequence variant of AMH gene that has a Gly residue at the position equivalent to Val-12 in the human sequence UniProtKB:P03971 that is part of the signal peptide.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
anti-Muellerian hormone sequence variant 2
MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
An anti-Muellerian hormone that is a translation product of the a polymorphic sequence variant of AMH gene that has a Pro residue at the position equivalent to Leu-70 in the human sequence UniProtKB:P03971.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:261550
http://purl.org/obo/owl/MIM#MIM_261550
anti-Muellerian hormone sequence variant 3
MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:261550
http://purl.org/obo/owl/MIM#MIM_261550
An anti-Muellerian hormone that is a translation product of the a polymorphic sequence variant of AMH gene that has a Val residue at the position equivalent to Gly-101 in the human sequence UniProtKB:P03971.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
anti-Muellerian hormone sequence variant 4
MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
An anti-Muellerian hormone that is a translation product of the a polymorphic sequence variant of AMH gene that has a Trp residue at the position equivalent to Arg-123 in the human sequence UniProtKB:P03971.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:261550
http://purl.org/obo/owl/MIM#MIM_261550
anti-Muellerian hormone sequence variant 5
MIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:261550
http://purl.org/obo/owl/MIM#MIM_261550
An anti-Muellerian hormone that is a translation product of the a polymorphic sequence variant of AMH gene that has a Cys residue at the position equivalent to Tyr-167 in the human sequence UniProtKB:P03971.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
anti-Muellerian hormone sequence variant 6
GO:0044424 "located_in intracellular part [PMID:8162013, TaxID:9606; PMID:14673134, TaxID:9606]".nMIM:261550 "agent_in PERSISTENT MULLERIAN DUCT SYNDROME, TYPES I AND II".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".nSO:1000103 "has_agent mutation_decreasing_level_of_translation_product".nSO:1000121 "has_agent mutation_causing_polypeptide_localization_change".
pro
GO:0044424
http://purl.org/obo/owl/GO#GO_0044424
MIM:261550
http://purl.org/obo/owl/MIM#MIM_261550
An anti-Muellerian hormone that is a translation product of the a polymorphic sequence variant of AMH gene that has a Cys residue at the position equivalent to Arg-194 in the human sequence UniProtKB:P03971.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000121
http://purl.org/obo/owl/SO#SO_1000121
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
SO:1000103
http://purl.org/obo/owl/SO#SO_1000103
anti-Muellerian hormone sequence variant 7
GO:0044424 "located_in intracellular part [PMID:8162013, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".nSO:1000121 "has_agent mutation_causing_polypeptide_localization_change".
pro
An anti-Muellerian hormone that is a translation product of the a polymorphic sequence variant of AMH gene that has an Ala residue at the position equivalent to Val-477 in the human sequence UniProtKB:P03971.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
SO:1000121
http://purl.org/obo/owl/SO#SO_1000121
GO:0044424
http://purl.org/obo/owl/GO#GO_0044424
c-myc protein isoform 1
GO:0003700 "contributes_to_function transcription factor activity".nGO:0005515 "has_function protein binding [PMID:12706874]".nGO:0005634 "located_in nucleus [PMID:16908182; PMID:15503302, TaxID:10090]".nGO:0005667 "part_of transcription factor complex [PMID:2006410, TaxID:9606; PMID:16908182] with MAX".nGO:0006357 "participates_in regulation of transcription from RNA polymerase II promoter".nGO:0007050 "participates_in cell cycle arrest".nGO:0008283 "participates_in cell proliferation [PMID:10962037]".
pro
GO:0007050
http://purl.org/obo/owl/GO#GO_0007050
GO:0008283
http://purl.org/obo/owl/GO#GO_0008283
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0006357
http://purl.org/obo/owl/GO#GO_0006357
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
A c-myc protein that is a translation product of a processed transcript of the MYC gene comprising the first ATG-initiated open reading frame extending from exon 2 through exon 3.
PMID:3277717
http://purl.org/obo/owl/PMID#PMID_3277717
c-myc protein isoform 2
GO:0003700 "contributes_to_function transcription factor activity [PMID:3277717, TaxID:9606; PMID:7958908, TaxID:10090]".nGO:0005667 "part_of transcription factor complex [PMID:7958908, TaxID:10090] with MAX".
pro
p67
A c-myc protein that is a translation product of a processed transcript of the MYC gene using an alternate non-ATG initiator in exon 1, rendering an N-terminal extended form.
PMID:3277717
http://purl.org/obo/owl/PMID#PMID_3277717
p68
cartilage oligomeric matrix protein isoform 1
GO:0001501 "participates_in skeletal development [PMID:7670472, TaxID:9606]".nGO:0009887 "participates_in organ morphogenesis [PMID:7713493, TaxID:9606]".
pro
GO:0001501
http://purl.org/obo/owl/GO#GO_0001501
GO:0009887
http://purl.org/obo/owl/GO#GO_0009887
A cartilage oligomeric matrix protein that is a translation product of a processed transcript of the COMP gene, comprising all core domains, as in the human sequence UniProtKB:P49747, and is the precursor of the mature protein.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cartilage oligomeric matrix protein sequence variant 1
MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Arg residue at the position equivalent to Pro-276 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:132400
http://purl.org/obo/owl/MIM#MIM_132400
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
cartilage oligomeric matrix protein sequence variant 10
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Gly residue at the position equivalent to Cys-387 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
cartilage oligomeric matrix protein sequence variant 11
MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:132400
http://purl.org/obo/owl/MIM#MIM_132400
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Tyr residue at the position equivalent to Asp-408 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cartilage oligomeric matrix protein sequence variant 12
MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:132400
http://purl.org/obo/owl/MIM#MIM_132400
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Ala residue at the position equivalent to Asp-420 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cartilage oligomeric matrix protein sequence variant 13
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Glu residue at the position equivalent to Gly-440 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
cartilage oligomeric matrix protein sequence variant 14
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Arg residue at the position equivalent to Gly-440 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
cartilage oligomeric matrix protein sequence variant 15
MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Ser residue at the position equivalent to Asn-453 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:132400
http://purl.org/obo/owl/MIM#MIM_132400
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
cartilage oligomeric matrix protein sequence variant 16
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Val residue at the position equivalent to Asp-439 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cartilage oligomeric matrix protein sequence variant 17
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Tyr residue at the position equivalent to Cys-468 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
cartilage oligomeric matrix protein sequence variant 18
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Tyr residue at the position equivalent to Asp-472 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cartilage oligomeric matrix protein sequence variant 19
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Gly residue at the position equivalent to Asp-473 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cartilage oligomeric matrix protein sequence variant 2
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Asn residue at the position equivalent to Asp-290 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
cartilage oligomeric matrix protein sequence variant 20
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Gly residue at the position equivalent to Asp-482 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
cartilage oligomeric matrix protein sequence variant 21
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Asn residue at the position equivalent to asp-518 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
cartilage oligomeric matrix protein sequence variant 22
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Asp residue at the position equivalent to Gly-719 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cartilage oligomeric matrix protein sequence variant 23
MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:132400
http://purl.org/obo/owl/MIM#MIM_132400
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Lys residue at the position equivalent to Asn-523 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cartilage oligomeric matrix protein sequence variant 24
MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".nMIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Met residue at the position equivalent to Thr-585 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
MIM:132400
http://purl.org/obo/owl/MIM#MIM_132400
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
cartilage oligomeric matrix protein sequence variant 25
MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Arg residue at the position equivalent to Thr-585 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:132400
http://purl.org/obo/owl/MIM#MIM_132400
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
cartilage oligomeric matrix protein sequence variant 26
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Val residue at the position equivalent to region 391-394 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
cartilage oligomeric matrix protein sequence variant 27
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
pro
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
A cartilage oligomeric matrix protein that is a translation product of the COMP gene with a mutation causing amino acid deletion at a position equivalent to residue 372 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cartilage oligomeric matrix protein sequence variant 28
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
pro
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
A cartilage oligomeric matrix protein that is a translation product of the COMP gene with a mutation causing amino acid deletion at a position equivalent to residue 374 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cartilage oligomeric matrix protein sequence variant 29
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
pro
A cartilage oligomeric matrix protein that is a translation product of the COMP gene with a mutation causing amino acid deletion at a position equivalent to residue 459 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
cartilage oligomeric matrix protein sequence variant 3
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Arg residue at the position equivalent to Gly-299 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
cartilage oligomeric matrix protein sequence variant 30
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
pro
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
A cartilage oligomeric matrix protein that is a translation product of the COMP gene with a mutation causing amino acid deletion at a position equivalent to residue 469 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cartilage oligomeric matrix protein sequence variant 31
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
pro
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
A cartilage oligomeric matrix protein that is a translation product of the COMP gene with a mutation causing amino acid deletion at a position equivalent to residue 473 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cartilage oligomeric matrix protein sequence variant 32
MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
pro
MIM:132400
http://purl.org/obo/owl/MIM#MIM_132400
A cartilage oligomeric matrix protein that is a translation product of the COMP gene with a mutation causing amino acid deletion at a position equivalent to region 367-368 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
cartilage oligomeric matrix protein sequence variant 33
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
pro
A cartilage oligomeric matrix protein that is a translation product of the COMP gene with a mutation causing amino acid deletion at a position equivalent to region 513-516 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
cartilage oligomeric matrix protein sequence variant 4
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Arg residue at the position equivalent to Cys-328 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
cartilage oligomeric matrix protein sequence variant 5
MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:132400
http://purl.org/obo/owl/MIM#MIM_132400
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Tyr residue at the position equivalent to Asp-342 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cartilage oligomeric matrix protein sequence variant 6
MIM:177170 "agent_in PSEUDOACHONDROPLASTIC DYSPLASIA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:177170
http://purl.org/obo/owl/MIM#MIM_177170
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Arg residue at the position equivalent to Cys-348 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cartilage oligomeric matrix protein sequence variant 7
MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Val residue at the position equivalent to Asp-361 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:132400
http://purl.org/obo/owl/MIM#MIM_132400
cartilage oligomeric matrix protein sequence variant 8
MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Tyr residue at the position equivalent to Asp-361 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:132400
http://purl.org/obo/owl/MIM#MIM_132400
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
cartilage oligomeric matrix protein sequence variant 9
MIM:132400 "agent_in EPIPHYSEAL DYSPLASIA, MULTIPLE, 1".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:132400
http://purl.org/obo/owl/MIM#MIM_132400
A cartilage oligomeric matrix protein that is a translation product of the a polymorphic sequence variant of COMP gene that has an Ser residue at the position equivalent to Cys-371 in the human sequence UniProtKB:P49747.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
chordin isoform 1 cleaved form
pro
A chordin isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
creb-binding protein isoform 1
GO:0000123 "part_of histone acetyltransferase complex [PMID:9742083, TaxID:9606]".nGO:0003713 "has_function transcription coactivator activity [PMID:10893273, TaxID:9606; PMID:12169688, TaxID:9606; PMID:12586840, TaxID:9606; PMID:8684459, TaxID:9606; PMID:10733899, TaxID:9606]".nGO:0004402 "has_function histone acetyltransferase activity [PMID:11867645, TaxID:10090; PMID:11742995, TaxID:9606]".nGO:0005515 "has_function protein binding [P17096, PMID:10428834, TaxID:9606; P42858, PMID:10823891, TaxID:9606; Q14686, PMID:10866662, TaxID:9606; Q9UER7, PMID:11799127, TaxID:9606; P55209, PMID:11940655, TaxID:9606; Q04206, PMID:16291753, TaxID:9606; Q92793, PMID:8684459, TaxID:9606; P04637, PMID:9194564, TaxID:9606; Q16665, PMID:9887100, TaxID:9606; Q99967-1, PMID:99104162, TaxID:9606; P88946, PMID:10733899, TaxID:10090; Q60749, PMID:12496368, TaxID:10090; Q64451, PMID:9194565, TaxID:10090]".nGO:0005634 "located_in nucleus [PMID:11963968, TaxID:10090; PMID:12496368, TaxID:10090; PMID:7913207, TaxID:9606]".nGO:0006355 "participates_in regulation of transcription, DNA-dependent [PMID:12169688, TaxID:9606; PMID:7913207, TaxID:9606]".nGO:0016407 "has_function acetyltransferase activity [PMID:11742995, TaxID:9606; PMID:12496368, TaxID:10090]".nGO:0016573 "participates_in histone acetylation [PMID:11742995, TaxID:9606]".nGO:0045893 "participates_in positive regulation of transcription, DNA-dependent [PMID:15464984, TaxID:10090; PMID:11742995, TaxID:9606]".
pro
GO:0003713
http://purl.org/obo/owl/GO#GO_0003713
GO:0004402
http://purl.org/obo/owl/GO#GO_0004402
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0016407
http://purl.org/obo/owl/GO#GO_0016407
A creb-binding protein that is a translation product of a processed transcript of the CREBBP gene, represented by the human sequence UniProtKB:Q92793.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0016573
http://purl.org/obo/owl/GO#GO_0016573
GO:0045893
http://purl.org/obo/owl/GO#GO_0045893
GO:0006355
http://purl.org/obo/owl/GO#GO_0006355
creb-binding protein sequence variant 1
GO:0004402 "NOT has_function histone acetyltransferase activity [PMID:11331617, TaxID:9606]".nMIM:180849 "agent_in RUBINSTEIN-TAYBI SYNDROME [PMID:11331617, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".nSO:1000118 "has_agent mutation_causing_loss_of_function_of_polypeptide [PMID:11331617, TaxID:9606]".
pro
SO:1000118
http://purl.org/obo/owl/SO#SO_1000118
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A creb-binding protein that is a translation product of the a polymorphic sequence variant of the wild type CREBBP gene that has an Arg residue at the position equivalent to Pro-1378 in the human sequence UniProtKB:Q92793.
PMID:11331617
http://purl.org/obo/owl/PMID#PMID_11331617
MIM:180849
http://purl.org/obo/owl/MIM#MIM_180849
cullin 1 isoform 1
GO:0005515 "has_function protein binding [Q86VP6, PMID:12504026, TaxID:9606]".nGO:0019005 "NOT part_of SCF ubiquitin ligase complex when bound to Cullin-associated NEDD8-dissociated protein 1 [PMID:12504026, TaxID:9606; PMID:10713156, TaxID:9606; PMID:10921923, TaxID:9606]".
pro
A cullin 1 that is a translation product of a processed transcript of the CUL1 gene represented by the human sequence UniProtKB:Q13616.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
cyclin-dependent kinase 4 inhibitor B isoform 1
GO:0000079 "participates_in regulation of cyclin-dependent protein kinase activity [PMID:8078588, TaxID:9606]".nGO:0004861 "has_function cyclin-dependent protein kinase inhibitor activity [PMID:8078588, TaxID:9606]".nGO:0005515 "has_function protein binding [PMID:16169070, TaxID:9606]".nGO:0007050 "participates_in cell cycle arrest [PMID:8078588, TaxID:9606]".nGO:0008285 "participates_in negative regulation of cell proliferation [PMID:8078588, TaxID:9606]".
pro
GO:0007050
http://purl.org/obo/owl/GO#GO_0007050
GO:0008285
http://purl.org/obo/owl/GO#GO_0008285
GO:0000079
http://purl.org/obo/owl/GO#GO_0000079
GO:0004861
http://purl.org/obo/owl/GO#GO_0004861
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
A cyclin-dependent kinase 4 inhibitor B that is a translation product of a processed transcript of the CDKN2B gene represented by the human sequence UniProtKB:P42772.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cyclin-dependent kinase 4 inhibitor B sequence variant 1
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A cyclin-dependent kinase 4 inhibitor B that is a translation product of the a polymorphic sequence variant of CDKN2B gene that has a Glu residue at the position equivalent to Gly-47 in human sequence UniProtKB:P42772, and is involved in lung adenocarcinoma.
PMID:7882351
http://purl.org/obo/owl/PMID#PMID_7882351
cyclin-dependent kinase 4 inhibitor B sequence variant 2
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A cyclin-dependent kinase 4 inhibitor B that is a translation product of the a polymorphic sequence variant of CDKN2B gene that has a Val residue at the position equivalent to Ala-50 in human sequence UniProtKB:P42772, and is involved in lung adenocarcinoma.
PMID:7882351
http://purl.org/obo/owl/PMID#PMID_7882351
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
decorin isoform 1
GO:0030512 "participates_in negative regulation of transforming growth factor beta receptor signaling pathway [PMID:11879191]".nGO:0030199 "participates_in collagen fibril organization PMID:17651433, TaxID:9606]".
pro
A decorin that is a translation product of a processed transcript of the DCN gene comprising all coding exons, as in the human sequence UniProtKB:P07585-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
isoform A precursor
GO:0030512
http://purl.org/obo/owl/GO#GO_0030512
GO:0030199
http://purl.org/obo/owl/GO#GO_0030199
decorin isoform 2
pro
A decorin that is a translation product of a processed transcript of the DCN gene that lacks exons 3 and 4 in the coding region compared to isoform 1, as in the human sequence UniProtKB:P07585-2. This does not cause frameshift but the encoded lacks a strech of approximately 100 amino acids after the propeptide region. Thus it is not clear if cleavage takes place for the mature peptide to be produced from the proprotein.
EntrezGene:1634
http://purl.org/obo/owl/EntrezGene#EntrezGene_1634
isoformB
decorin isoform 3
pro
isoformC
A decorin that is a translation product of a processed transcript of the DCN gene that lacks exons 3, 4 and 5 in the coding region compared to isoform 1. This causes an internal frameshift and the encoded isoform is shorter, as in the human sequence UniProtKB:P07585-3. Thus it is not clear if cleavage takes place for the mature peptide to be produced from the proprotein.
EntrezGene:1634
http://purl.org/obo/owl/EntrezGene#EntrezGene_1634
decorin isoform 4
pro
isoformD
A decorin that is a translation product of a processed transcript of the DCN gene that lacks exons 4, 5, 6 and 7 in the coding region compared to isoform 1. This does not cause a frameshift but the encoded isoform lacks a strech of approximately 187 amino acids, as in the human sequence UniProtKB:P07585-4. Thus it is not clear if cleavage takes place for the mature peptide to be produced from the proprotein.
EntrezGene:1634
http://purl.org/obo/owl/EntrezGene#EntrezGene_1634
decorin isoform 5
pro
A decorin that is a translation product of a processed transcript of the DCN gene that lacks exons 3, 4, 5, 6 and 7 in the coding region compared to isoform 1. This causes a frameshift and the encoded isoform is shorter, as in the human sequence UniProtKB:P07585-5. Thus it is not clear if cleavage takes place for the mature peptide to be produced from the proprotein.
EntrezGene:1634
http://purl.org/obo/owl/EntrezGene#EntrezGene_1634
isoformE
fas ligand isoform 1
GO:0005887 "located_in integral to plasma membrane".nGO:0006915 "participates_in apoptosis [PMID:16365167, TaxID:10090]".nGO:0008624 "participates_in induction of apoptosis by extracellular signals [PMID:15039234, TaxID:10090]".nGO:0009986 "located_in cell surface [PMID:16973387, TaxID:10090]".nGO:0043123 "participates_in positive regulation of I-kappaB kinase/NF-kappaB cascade [PMID:12761501]".
pro
FasL long
GO:0043123
http://purl.org/obo/owl/GO#GO_0043123
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
GO:0008624
http://purl.org/obo/owl/GO#GO_0008624
GO:0006915
http://purl.org/obo/owl/GO#GO_0006915
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
A fas ligand that is a translation product of a processed transcript of the FASLG gene comprising the exons that code for the cytoplasmic, the transmembrane and the TNF (extracellular) domains.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
fas ligand isoform 2
GO:0005615 "located_in extracellular space [PMID:10552956, TaxID:10090]".nGO:0043066 "participates_in negative regulation of apoptosis [PMID:10552956, TaxID:10090]".
pro
FasL short
FasLS
A fas ligand that is a translation product of a processed transcript of the FASLG gene that lacks the exons coding for the transmembrane domain.
PMID:10552956
http://purl.org/obo/owl/PMID#PMID_10552956
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0043066
http://purl.org/obo/owl/GO#GO_0043066
fas ligand sequence variant 1
GO:0005102 "has_function (impaired) receptor binding [PMID:9405425, TaxID:9606]".nGO:0005887 "located_in integral to plasma membrane [PMID:7495745, TaxID:10090]".nGO:0009986 "located_in cell surface [PMID:9405425, TaxID:9606]".nGO:0042802 "has_function identical protein binding [PMID:9405425, TaxID:9606]".nMIM:601859 "agent_in AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
GO:0042802
http://purl.org/obo/owl/GO#GO_0042802
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
gld
GO:0005102
http://purl.org/obo/owl/GO#GO_0005102
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:601859
http://purl.org/obo/owl/MIM#MIM_601859
A fas ligand that is a translation product of the a polymorphic sequence variant of FASLG gene that has a Leu residue at the position equivalent to Phe-273 in the mouse sequence UniProtKB:P03971 which leads to an immune system phenotype with enlarge lymph nodes (MP:0000702) and increased lymphocyte cell number (MP:0005013).
PMID:7495745
http://purl.org/obo/owl/PMID#PMID_7495745
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
follistatin isoform 1 cleaved and glycosylated form
MOD:00693 "has_modification glycosylated residue".
pro
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
A follistatin isoform 1 that has been processed by proteolytic cleavage and has been post-translationally modified to include a glycosylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
follistatin isoform 2 cleaved and glycosylated form
MOD:00693 "has_modification glycosylated residue".
pro
A follistatin isoform 2 that has been processed by proteolytic cleavage and has been post-translationally modified to include a glycosylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
growth/differentiation factor 5
GO:0030326 "participates_in [ISS] embryonic limb morphogenesis".
pro
CDMP-1
Cartilage-derived morphogenetic protein 1
GO:0030326
http://purl.org/obo/owl/GO#GO_0030326
A growth/differentiation factor that is a translation product of the GDF5 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PANTHER:PTHR11848:SF44
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11848:SF44
growth/differentiation factor 7
GO:0045165 "participates_in cell fate commitment [PMID:15883363, TaxID:10090]".
pro
PANTHER:PTHR11848:SF42
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11848:SF42
GO:0045165
http://purl.org/obo/owl/GO#GO_0045165
A growth/differentiation factor that is a translation product of the GDF7 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
interferon gamma isoform 1 cleaved and glycosylated form
Mature IFGN is heterogeneous in its C-terminus.n[PMID:12882831, TaxID:10090; PMID:15240719, TaxID:10090; PMID:12925700, TaxID:10090].nGO:0005125 "has_function cytokine activity [PMID:11027433, TaxID:10090; PMID:15240719, TaxID:10090; PMID:12925700, TaxID:10090]".nGO:0005615 "located_in extracellular space [PMID:11057672, TaxID:10090; PMID:11728336, TaxID:10090; PMID:15240714, TaxID:10090]".nGO:0050776 "participates_in regulation of immune response [PMID:12882831, TaxID:10090]".nMOD:00693 "has_modification glycosylated residue".
pro
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
An interferon gamma isoform 1 that has been processed by proteolytic cleavage and has been post-translationally modified to include a glycosylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0050776
http://purl.org/obo/owl/GO#GO_0050776
GO:0005125
http://purl.org/obo/owl/GO#GO_0005125
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
interferon gamma isoform 1 cleaved form
pro
An interferon gamma isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
latent-TGF-beta-binding protein 1 isoform 1
GO:0005024 "has_function transforming growth factor beta receptor activity [PMID:8537398, TaxID:9606]".nGO:0005578 "located_in proteinaceous extracellular matrix [PMID:8537398, TaxID:9606]".
pro
A latent-TGF-beta-binding protein 1 that is a translation product of the longest processed transcript of LTBP1 gene, and that contains a unique N-terminus consisting of a signal peptide, a conserved Cys motif C(x)3CC(x)11C, and an EGF-like domain. The presence of multiple EGF-like domains, calcium binding EGF and TB domains at the C-terminus is common with other isoforms. This form is a precursor and is represented by the human sequence UniProtKB:Q14766-1.
PMID:8537398
http://purl.org/obo/owl/PMID#PMID_8537398
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
long isoform
GO:0005578
http://purl.org/obo/owl/GO#GO_0005578
GO:0005024
http://purl.org/obo/owl/GO#GO_0005024
latent-TGF-beta-binding protein 1 isoform 2
pro
A latent-TGF-beta-binding protein 1 that is a translation product of the short processed transcript of TGFB1 gene, and that contains a unique signal peptide and is multiple EGF-like domains, calcium binding EGF and TB domains at the C-terminus, that is common with other isoforms. This form is a precursor and is represented by the human sequence UniProtKB:P22064-1.
PMID:8537398
http://purl.org/obo/owl/PMID#PMID_8537398
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
LTBP-1S precursor
LTPBP1 short isoform
lefty 1
pro
A lefty that is a translation product of the LEFTY1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
LEFTY1
Left-right determination factor 1
lefty 2
pro
Left-right determination factor 2
LEFTY2
Left-right determination factor B
A protein that is a translation product of the LEFTY2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
mitogen-activated protein kinase 1 isoform 1
GO:0004707 "NOT has_function MAP kinase activity".nGO:0005737 "located_in cytoplasm [PMID:11726647, TaxID:10090; PMID:12223545, TaxID:10090]".nGO:0006917 "participates_in induction of apoptosis".nGO:0006935 "participates_in chemotaxis".nGO:0006950 "participates_in response to stress".nGO:0007165 "participates_in signal transduction".nGO:0007268 "participates_in synaptic transmission".
pro
GO:0006950
http://purl.org/obo/owl/GO#GO_0006950
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
GO:0007268
http://purl.org/obo/owl/GO#GO_0007268
GO:0006917
http://purl.org/obo/owl/GO#GO_0006917
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
GO:0006935
http://purl.org/obo/owl/GO#GO_0006935
A mitogen-activated protein kinase 1 that is a translation product of a processed transcript of the MAPK1 gene, and that contains an intact protein kinase domain, as in the human sequence UniProtKB:P28482.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
mitogen-activated protein kinase 3 isoform 1
GO:0005515 "has_function protein binding [Q9DAJ4, PMID:15118098, TaxID:10090]".nGO:0005737 "located_in cytoplasm [PMID:12223545, TaxID:10090; PMID:11726647, TaxID:10090]".nGO:0051726 "participates_in regulation of cell cycle [PMID:7687743, TaxID:9606]".
pro
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
A mitogen-activated protein kinase 3 that is a translation product of a processed transcript of the MAPK3 gene, and that contains an intact protein kinase domain, as in the human sequence UniProtKB:P27361.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0051726
http://purl.org/obo/owl/GO#GO_0051726
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
nodal isoform 1
GO:0005615 "located_in extracellular space [PMID:15649361, TaxID:10090]".nGO:0007368 "participates_in determination of left/right symmetry [PMID:12654299, TaxID:10090]".nGO:0009952 "participates_in anterior/posterior pattern formation [PMID:15004567, TaxID:10090]".nGO:0042803 "has_function protein homodimerization activity [PMID:15649361, TaxID:10090]".
pro
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
GO:0009952
http://purl.org/obo/owl/GO#GO_0009952
GO:0007368
http://purl.org/obo/owl/GO#GO_0007368
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
A nodal protein that is a translation product of a processed transcript of the NODAL gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:Q96S42. This form is a precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
nodal sequence variant 1
MIM:601265.0001 "agent_in SITUS AMBIGUUS [NODAL, ARG183GLN] [PMID:9354794, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A nodal protein that is a translation product of the NODAL gene that has a Gln residue at the position equivalent to Arg-183 in the human sequence UniProtKB:Q96S42.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:601265.0001
http://purl.org/obo/owl/MIM#MIM_601265.0001
noggin isoform 1 cleaved form
pro
A noggin isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
pituitary homeobox protein 2 isoform 1
GO:0005634 "located_in nucleus [PMID:16449236, TaxID:9606; PMID:11854422, TaxID:10090]".nGO:0007266 "participates_in Rho protein signal transduction [PMID:11854422, TaxID:10090]".nGO:0007368 "NOT participates_in determination of left/right symmetry [PMID:10585561, TaxID:10090]".nGO:0031532 "participates_in actin cytoskeleton reorganization [PMID:11854422, TaxID:10090]".nGO:0008134 "has_function transcription factor binding [PMID:15385555, TaxID:10090; PMID:16449236, TaxID:9606]".nGO:0005515 "has_function protein binding [PRO:000000296, PMID:11948188, TaxID:9606]".
pro
A translation product of a processed transcript of the PITX2 gene comprising exons 1-2, 5 and 6 as in the human sequence UniProtKB:Q99697-3.
PMID:10585561
http://purl.org/obo/owl/PMID#PMID_10585561
GO:0031532
http://purl.org/obo/owl/GO#GO_0031532
GO:0008134
http://purl.org/obo/owl/GO#GO_0008134
GO:0007266
http://purl.org/obo/owl/GO#GO_0007266
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
ARP1A
Pitx2a
pituitary homeobox protein 2 isoform 2
GO:0005667 "part_of transcription factor complex [PMID:15385555, TaxID:10090; PMID:12464179, TaxID:10090]".nGO:0007368 "participates_in determination of left/right symmetry [PMID:9708732, TaxID:9606; PMID:12397115, TaxID:10090]".nGO:0009887 "participates_in organ morphogenesis [PMID:9618168, TaxID:9606]".nGO:0016055 "participates_in Wnt receptor signaling pathway [PMID:12464179, TaxID:10090]".
pro
A translation product of a processed transcript of the PITX2 gene that inlcudes exons 1-3, 5 and 6 as in the human sequence UniProtKB:Q99697-3.
PMID:10585561
http://purl.org/obo/owl/PMID#PMID_10585561
ARP1B
GO:0007368
http://purl.org/obo/owl/GO#GO_0007368
Pitx2b
GO:0016055
http://purl.org/obo/owl/GO#GO_0016055
GO:0009887
http://purl.org/obo/owl/GO#GO_0009887
BRX1B
pituitary homeobox protein 2 isoform 3
GO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:10585561, TaxID:10090]".nGO:0007368 "participates_in determination of left/right symmetry [PMID:9708732, TaxID:10090]".nGO:0009887 "participates_in organ morphogenesis [PMID:10585561, TaxID:10090]".nGO:0007507 "participates_in heart development [PMID:11948188, TaxID:9606]".nGO:0003677 "has_function DNA binding [PMID:11948188, TaxID:9606]".nGO:0005515 "has_function protein binding [PRO:000000294, PMID:11948188, TaxID:9606; PRO:000000295, PMID:11948188, TaxID:9606]".
pro
Pitx2c
BRX1A
A translation product of a processed transcript of the PITX2 gene that uses an alternative promoter located upstream of exon 4 as in the human sequence UniProtKB:Q99697-2.
PMID:10585561
http://purl.org/obo/owl/PMID#PMID_10585561
ARP1C
GO:0003677
http://purl.org/obo/owl/GO#GO_0003677
GO:0007507
http://purl.org/obo/owl/GO#GO_0007507
GO:0007368
http://purl.org/obo/owl/GO#GO_0007368
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0009887
http://purl.org/obo/owl/GO#GO_0009887
pituitary homeobox protein 2 isoform 4
GO:0003677 "NOT has_function DNA binding [PMID:11948188, TaxID:9606]".nPfam:PF00046 "NOT has_part Homeobox domain".nGO:0043433 "participates_in negative regulation of transcription factor activity [PMID:11948188, TaxID:9606]".
pro
pitx2D
A translation product of a processed transcript of the PITX2 gene that uses an alternative promoter and results from splicing of exon 4a to a cryptic 3'-splice site in exon 5, which produces a truncated homeodomain and complete C-terminal tail.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0043433
http://purl.org/obo/owl/GO#GO_0043433
pituitary homeobox protein 2 sequence variant 1
MIM:137600 "agent_in IRIDOGONIODYSGENESIS, TYPE 2".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A pituitary homeobox protein 2 that is a translation product of the PITX2 gene that has a Trp residue at the position equivalent to Arg-89 in the human sequence UniProtKB:Q99697.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:137600
http://purl.org/obo/owl/MIM#MIM_137600
pituitary homeobox protein 2 sequence variant 2
MIM:180500 "agent_in RIEGER SYNDROME, TYPE 1 [PMID: 8944018]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:180500
http://purl.org/obo/owl/MIM#MIM_180500
A pituitary homeobox protein 2 that is a translation product of the PITX2 gene that has a Gln residue at the position equivalent to Leu-100 in the human sequence UniProtKB:Q99697.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
pituitary homeobox protein 2 sequence variant 3
MIM:180500 "agent_in RIEGER SYNDROME, TYPE 1".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A pituitary homeobox protein 2 that is a translation product of the PITX2 gene that has a Pro residue at the position equivalent to Thr-114 in the human sequence UniProtKB:Q99697.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:180500
http://purl.org/obo/owl/MIM#MIM_180500
pituitary homeobox protein 2 sequence variant 4
MIM:137600 "agent_in IRIDOGONIODYSGENESIS, TYPE 2 [PMID:9618168, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A pituitary homeobox protein 2 that is a translation product of the PITX2 gene that has a His residue at the position equivalent to Arg-115 in the human sequence UniProtKB:Q99697.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:137600
http://purl.org/obo/owl/MIM#MIM_137600
pituitary homeobox protein 2 sequence variant 5
MIM:180500 "agent_in RIEGER SYNDROME, TYPE 1 [PMID:8944018, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:180500
http://purl.org/obo/owl/MIM#MIM_180500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A pituitary homeobox protein 2 that is a translation product of the PITX2 gene that has a Pro residue at the position equivalent to Arg-137 in the human sequence UniProtKB:Q99697.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
retinoblastoma-like protein 1 isoform 1
GO:0005515 "has_function protein binding [PMID:11884610, TaxID:9606]".nGO:0030308 "has_function negative regulation of cell growth [PMID:11884610, TaxID:9606]".nGO:0051726 "participates_in regulation of cell cycle".
pro
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0051726
http://purl.org/obo/owl/GO#GO_0051726
A retinoblastoma-like protein 1 that is a translation product of a processed transcript of the RBL1 gene, comprising the core domains, as in the human sequence UniProtKB:P28749-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0030308
http://purl.org/obo/owl/GO#GO_0030308
retinoblastoma-like protein 1 isoform 2
GO:0051726 "participates_in regulation of cell cycle".
pro
A retinoblastoma-like protein 1 that is a translation product of a processed transcript of the RBL1 gene, comprising the core domains, as in the human sequence UniProtKB:P28749-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0051726
http://purl.org/obo/owl/GO#GO_0051726
retinoblastoma-like protein 1 isoform 3
Pfam:PF01857 "NOT has_part Retinoblastoma-associated protein B domain".
pro
A retinoblastoma-like protein 1 that is a translation product of a processed transcript of the RBL1 gene, that lacks the C-terminal retinoblastoma-associated protein B domain, as in the mouse sequence UniProtKB:Q64701-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
retinoblastoma-like protein 2 isoform 1
GO:0005515 "has_function protein binding [PMID:8361765, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:10082561, TaxID:10090]".nGO:0030308 "has_function negative regulation of cell growth".nGO:0051726 "participates_in regulation of cell cycle".
pro
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0030308
http://purl.org/obo/owl/GO#GO_0030308
GO:0051726
http://purl.org/obo/owl/GO#GO_0051726
A retinoblastoma-like protein 1 that is a translation product of a processed transcript of the RBL2 gene, comprising the core domains, as in the human sequence UniProtKB:Q08999.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
rho-associated protein kinase 1 isoform 1
GO:0004674 "has_function protein serine/threonine kinase activity when bound to rho-GTP".nGO:0006468 "participates_in protein amino acid phosphorylation".nGO:0007266 "participates_in Rho protein signal transduction".nGO:0017049 "has_function GTP-Rho binding [PMID:15475352, TaxID:9606; PMID:14660612, TaxID:9606]".nGO:0030036 "participates_in actin cytoskeleton organization and biogenesis [PMID:10436159, TaxID:9606]".nGO:0051260 "participates_in protein homooligomerization [PMID:15291762, TaxID:9606]".
pro
A rho-associated protein kinase 1 that is a translation product of a processed transcript of the ROCK1 gene, comprising the core domains. In resting cells, the C-terminal Rho-binding and PH domain mask the protein kinase catalytic domain, activation occurs through a conformational change.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0004674
http://purl.org/obo/owl/GO#GO_0004674
ROCK1 sequence 1
GO:0030036
http://purl.org/obo/owl/GO#GO_0030036
GO:0017049
http://purl.org/obo/owl/GO#GO_0017049
GO:0007266
http://purl.org/obo/owl/GO#GO_0007266
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
GO:0051260
http://purl.org/obo/owl/GO#GO_0051260
rho-associated protein kinase 2 isoform 1
GO:0004674 "has_function protein serine/threonine kinase activity".nGO:0005622 "located_in intracellular [PMID:16574662 , TaxID:9606]".nGO:0006468 "participates_in protein amino acid phosphorylation".nGO:0017049 "has_function GTP-Rho binding [PMID:11350930, TaxID:9606]".nGO:0051260 "participates_in protein homooligomerization [PMID:15291762, TaxID:9606]".
pro
GO:0004674
http://purl.org/obo/owl/GO#GO_0004674
GO:0005622
http://purl.org/obo/owl/GO#GO_0005622
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
A rho-associated protein kinase 1 that is a translation product of a processed transcript of the ROCK2 gene, comprising the core domains. In resting cells, the C-terminal Rho-binding and PH domain mask the protein kinase catalytic domain, activation occurs through a conformational change.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0017049
http://purl.org/obo/owl/GO#GO_0017049
GO:0051260
http://purl.org/obo/owl/GO#GO_0051260
rho-associated protein kinase 2 isoform 2
GO:0004674 "has_function protein serine/threonine kinase activity [PMID:17606625, TaxID:10090]".nGO:0006468 "participates_in protein amino acid phosphorylation [PMID:17606625, TaxID:10090]".nGO:0051149 "participates_in positive regulation of muscle cell differentiation [PMID:17606625, TaxID:10090]".
pro
ROCK2M
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
A rho-associated protein kinase 1 that is a translation product of a processed transcript of the ROCK2 gene, comprising the core domains but with an inclusion of an extra exon (exon 27' in mouse) between the rho binding and the PH domains.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0004674
http://purl.org/obo/owl/GO#GO_0004674
GO:0051149
http://purl.org/obo/owl/GO#GO_0051149
ribosomal protein S6 kinase beta 1 isoform 1
GO:0004672 "NOT has_function protein kinase activity".nGO:0007165 "participates_in signal transduction".
pro
A ribosomal protein S6 kinase beta 1 that is a translation product of a processed transcript of the RPS6KB1 gene, comprising the core domains, as in the human sequence UniProtKB:P23443-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Alpha I
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
ribosomal protein S6 kinase beta 1 isoform 2
GO:0004672 "NOT has_function protein kinase activity".nGO:0007165 "participates_in signal transduction".
pro
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
A ribosomal protein S6 kinase beta 1 that is a translation product of a processed transcript of the RPS6KB1 gene, comprising the core domains, as in the human sequence UniProtKB:P23443-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Alpha II
ribosomal protein S6 kinase beta 2 isoform 1
GO:0004674 "has_function protein serine/threonine kinase activity".nGO:0006412 "participates_in translation".nGO:0007165 "participates_in signal transduction".nGO:0051726 "participates_in regulation of cell cycle".
pro
A ribosomal protein S6 kinase beta 2 that is a translation product of a processed transcript of the RPS6KB2 gene, comprising the core domains, as in the human sequence UniProtKB:Q9UBS0-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0004674
http://purl.org/obo/owl/GO#GO_0004674
GO:0006412
http://purl.org/obo/owl/GO#GO_0006412
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
GO:0051726
http://purl.org/obo/owl/GO#GO_0051726
sara isoform 1
GO:0005515 "has_function protein binding [P08100, PMID:17693260, TaxID:9606]".nGO:0005515 "has_function protein binding [PRO:000000468, PMID:11877415, TaxID:9606]".nGO:0005769 "located_in early endosome [PMID:12356868, TaxID:9606; PMID:12432064, TaxID:9606; PMID:11877415, TaxID:9606]".nGO:0006897 "participates_in endocytosis [PMID:12809483, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:10615055, TaxID:9606]".nGO:0007183 "participates_in SMAD protein complex assembly [PMID:12356868, TaxID:9606; PMID:11877415, TaxID:9606]".nGO:0007184 "participates_in SMAD protein nuclear translocation [PMID:12356868, TaxID:9606; PMID:11877415, TaxID:9606]".
pro
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0005769
http://purl.org/obo/owl/GO#GO_0005769
GO:0006897
http://purl.org/obo/owl/GO#GO_0006897
GO:0007184
http://purl.org/obo/owl/GO#GO_0007184
GO:0007183
http://purl.org/obo/owl/GO#GO_0007183
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
A sara that is a translation product of the longest processed transcript of ZFYVE9 gene, and that contains intact FYVE and smad-binding domains, as in the human sequence UniProtKB:O95405-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
sara isoform 2
GO:0005615 "located_in extracellular space [PMID:9582421, TaxID:9606]".
pro
NSP
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
A sara that is a translation product of a processed transcript of the ZFYVE9 gene which lacks an in-frame exon in the coding region as compared to isoform 1, and is represented by the human sequence UniProtKB:O95405-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
sara isoform 3
GO:0005615 "located_in extracellular space [PMID:9582421, TaxID:9606]".
pro
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
A sara that is a translation product of the processed transcript of ZFYVE9 gene, and lacks the smad-binding domain, as in the human sequence UniProtKB:O95405-3.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
NSP
serine/threonine-protein kinase receptor R3 isoform 1
GO:0001525 "participates_in angiogenesis [PMID:10716993, TaxID:10090; PMID:12453878, TaxID:9606]".nGO:0004675 "has_function transmembrane receptor protein serine/threonine kinase activity [PMID:9245985, TaxID:9606; PMID:8242742, TaxID:9606]".nGO:0005025 "has_function transforming growth factor beta receptor activity, type I [PMID:8242742, TaxID:9606]".nGO:0005887 "located_in integral to plasma membrane [PMID:8397373, TaxID:9606; PMID:8242742, TaxID:9606]".nGO:0006468 "participates_in protein amino acid phosphorylation [PMID:9920917, TaxID:9606; PMID:14580334, TaxID:10090]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:14580334, TaxID:10090]".nGO:0008015 "participates_in blood circulation [PMID:9245985, TaxID:9606]".nGO:0009986 "located_in cell surface [PMID:8242742, TaxID:9606]".nGO:0016361 "has_function activin receptor activity, type I [PMID:8242742, TaxID:9606]".nGO:0046332 "has_function SMAD binding [PMID:9920917, TaxID:9606; PMID:14580334, TaxID:10090]".nGO:0048185 "has_function activin binding [PMID:8242742, TaxID:9606]".nGO:0050431 "has_function transforming growth factor beta binding [PMID:8242742, TaxID:9606]".
pro
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
GO:0005025
http://purl.org/obo/owl/GO#GO_0005025
GO:0004675
http://purl.org/obo/owl/GO#GO_0004675
GO:0001525
http://purl.org/obo/owl/GO#GO_0001525
GO:0046332
http://purl.org/obo/owl/GO#GO_0046332
GO:0016361
http://purl.org/obo/owl/GO#GO_0016361
GO:0050431
http://purl.org/obo/owl/GO#GO_0050431
GO:0048185
http://purl.org/obo/owl/GO#GO_0048185
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
A serine/threonine-protein kinase receptor R3 that is a translation product of a processed transcript of the ACVRL1 gene, and that contains an extracellular activin types I and II receptor domain, a transmembrane domain, and an intracellular GS and protein kinase domains. This form is represented by the human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
GO:0008015
http://purl.org/obo/owl/GO#GO_0008015
Serine/threonine-protein kinase receptor R3
ALK1
serine/threonine-protein kinase receptor R3 sequence variant 1
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Arg residue at the position equivalent to Gly-48 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
serine/threonine-protein kinase receptor R3 sequence variant 10
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Lys residue at the position equivalent to Glu-215 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 11
GO:0005887 "located_in integral to plasma membrane [PMID: 14684682, TaxID:9606]".nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the ACVRL1 gene with a mutation causing amino acid deletion at a position equivalent to residue 222 in the human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
serine/threonine-protein kinase receptor R3 sequence variant 12
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the ACVRL1 gene with a mutation causing amino acid deletion at a position equivalent to residue 233 in the human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
serine/threonine-protein kinase receptor R3 sequence variant 13
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Arg residue at the position equivalent to Gly-223 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 14
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Arg residue at the position equivalent to Lys-229 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
serine/threonine-protein kinase receptor R3 sequence variant 15
GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682]".nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the ACVRL1 gene with a mutation causing amino acid deletion at a position equivalent to residue 254 in the human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005783
http://purl.org/obo/owl/GO#GO_0005783
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
serine/threonine-protein kinase receptor R3 sequence variant 16
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Val residue at the position equivalent to Met-376 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
serine/threonine-protein kinase receptor R3 sequence variant 17
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Phe residue at the position equivalent to Leu-285 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
serine/threonine-protein kinase receptor R3 sequence variant 18
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Pro residue at the position equivalent to Ala-306 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 19
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Tyr residue at the position equivalent to His-314 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 2
GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
GO:0005783
http://purl.org/obo/owl/GO#GO_0005783
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Cys residue at the position equivalent to Trp-50 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 20
GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
GO:0005783
http://purl.org/obo/owl/GO#GO_0005783
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has an Ile residue at the position equivalent to Ser-333 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 21
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Pro residue at the position equivalent to Leu-337 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
serine/threonine-protein kinase receptor R3 sequence variant 22
GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Tyr residue at the position equivalent to Cys-344 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005783
http://purl.org/obo/owl/GO#GO_0005783
serine/threonine-protein kinase receptor R3 sequence variant 23
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Pro residue at the position equivalent to Ala-347 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
serine/threonine-protein kinase receptor R3 sequence variant 24
GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
GO:0005783
http://purl.org/obo/owl/GO#GO_0005783
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Gln residue at the position equivalent to Arg-374 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
serine/threonine-protein kinase receptor R3 sequence variant 25
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Trp residue at the position equivalent to Arg-374 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
serine/threonine-protein kinase receptor R3 sequence variant 26
GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
GO:0005783
http://purl.org/obo/owl/GO#GO_0005783
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Leu residue at the position equivalent to Pro-378 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 27
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Lys residue at the position equivalent to Glu-379 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 28
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Arg residue at the position equivalent to Met-376 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
serine/threonine-protein kinase receptor R3 sequence variant 29
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Gly residue at the position equivalent to Asp-397 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
serine/threonine-protein kinase receptor R3 sequence variant 3
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Tyr residue at the position equivalent to Cys-51 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
serine/threonine-protein kinase receptor R3 sequence variant 30
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Asn residue at the position equivalent to Ile-398 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
serine/threonine-protein kinase receptor R3 sequence variant 31
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Ser residue at the position equivalent to Trp-399 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 32
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Asp residue at the position equivalent to Glu-407 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
serine/threonine-protein kinase receptor R3 sequence variant 33
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Pro residue at the position equivalent to Arg-411 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 34
GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
GO:0005783
http://purl.org/obo/owl/GO#GO_0005783
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Gln residue at the position equivalent to Arg-411 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 35
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Trp residue at the position equivalent to Arg-411 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 36
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Thr residue at the position equivalent to Pro-424 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
serine/threonine-protein kinase receptor R3 sequence variant 37
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Leu residue at the position equivalent to Phe-425 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 38
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Val residue at the position equivalent to Phe-425 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
serine/threonine-protein kinase receptor R3 sequence variant 39
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".
pro
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
A serine/threonine-protein kinase receptor R3 that is a translation product of the ACVRL1 gene with a mutation causing amino acid deletion at a position equivalent to residue 425 in the human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 4
GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682, TaxID:9606]".nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
GO:0005783
http://purl.org/obo/owl/GO#GO_0005783
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Gln residue at the position equivalent to Arg-67 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
serine/threonine-protein kinase receptor R3 sequence variant 40)
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Leu residue at the position equivalent to Arg-479 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
serine/threonine-protein kinase receptor R3 sequence variant 41
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Val residue at the position equivalent to Ala-482 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
serine/threonine-protein kinase receptor R3 sequence variant 42
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Trp residue at the position equivalent to Arg-484 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
serine/threonine-protein kinase receptor R3 sequence variant 43
GO:0005887 "located_in integral to plasma membrane [PMID:14684682, TaxID:9606]".nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Thr residue at the position equivalent to Lys-487 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
serine/threonine-protein kinase receptor R3 sequence variant 44
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has Glu-Pro residues at the position equivalent to Gly48-Ala49 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
serine/threonine-protein kinase receptor R3 sequence variant 5
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Trp residue at the position equivalent to Arg-67 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
serine/threonine-protein kinase receptor R3 sequence variant 6
GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID:14684682]".nGO:0005783 "located_in endoplasmic reticulum [PMID:14684682, TaxID:9606]".nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
GO:0005783
http://purl.org/obo/owl/GO#GO_0005783
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Trp residue at the position equivalent to Cys-77 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 7
MIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has an Asp residue at the position equivalent to Asn-96 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
serine/threonine-protein kinase receptor R3 sequence variant 8
GO:0009986 "located_in cell surface [PMID:14684682, TaxID:9606]".nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has an Ala residue at the position equivalent to Asp-179 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
serine/threonine-protein kinase receptor R3 sequence variant 9
GO:0004675 "NOT has_function transmembrane receptor protein serine/threonine kinase activity [PMID: 14684682, TaxID:9606]".nGO:0005783 "located_in endoplasmic reticulum [PMID: 14684682, TaxID:9606]".nMIM:600376 "agent_in OSLER-RENDU-WEBER SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
GO:0005783
http://purl.org/obo/owl/GO#GO_0005783
MIM:600376
http://purl.org/obo/owl/MIM#MIM_600376
A serine/threonine-protein kinase receptor R3 that is a translation product of the a polymorphic sequence variant of ACVRL1 gene that has a Asp residue at the position equivalent to Gly-211 in human sequence UniProtKB:P37023.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad ubiquitination regulatory factor 1
GO:0030514 "participates_in negative regulation of BMP signaling pathway [PMID:14711801, TaxID:10090; PMID:10458166, TaxID:9606]".
pro
GO:0030514
http://purl.org/obo/owl/GO#GO_0030514
A smad ubiquitination regulatory factor that is a translation product of the SMURF1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad ubiquitination regulatory factor 2
GO:0004842 "has_function ubiquitin-protein ligase activity [PMID:14755250, TaxID:9606]".nGO:0005515 "has_function protein binding [PMID:14755250, TaxID:9606]".nGO:0006511 "participates_in ubiquitin-dependent protein catabolic process [PMID:14755250, TaxID:9606]".nGO:0017015 "participates_in regulation of transforming growth factor beta receptor signaling pathway [PMID:11016919, TaxID:9606; PMID:11163210, TaxID:9606; PMID:11158580, TaxID:9606; PMID:15862290, TaxID:9606]".
pro
GO:0006511
http://purl.org/obo/owl/GO#GO_0006511
SMURF2 isoform 1
GO:0017015
http://purl.org/obo/owl/GO#GO_0017015
GO:0004842
http://purl.org/obo/owl/GO#GO_0004842
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
A smad ubiquitination regulatory factor that is a translation product of the SMURF2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad1
pro
SMAD1
A BMP receptor-regulated smad protein that is a translation product of the SMAD1 gene.
PMID:10708949
http://purl.org/obo/owl/PMID#PMID_10708949
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad2
pro
Mothers against DPP homolog 2
MAD homolog 2
Mothers against decapentaplegic homolog 2
A TGF-beta receptor-regulated smad protein that is a translation product of the SMAD2 gene.
PMID:9311995
http://purl.org/obo/owl/PMID#PMID_9311995
smad3
pro
Mothers against decapentaplegic homolog 3
A TGF-beta receptor-regulated smad protein that is a translation product of the SMAD3 gene.
PMID:9311995
http://purl.org/obo/owl/PMID#PMID_9311995
smad4 isoform 1
GO:0003700 "has_function transcription factor activity [PMID:10823886, TaxID:9606; PMID:12943993, TaxID:10090; PMID:14633973, TaxID:10090; PMID:16522160, TaxID:10090; PMID:16556916, TaxID:10090]".nGO:0003712 "has_function transcription cofactor activity [PMID:10980615, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:10980615, TaxID:9606; PMID:15280432, TaxID:9606; PMID:12543979, TaxID:10090; PMID:16522160, TaxID:10090; PMID:12943993, TaxID:10090]".nGO:0005667 "part_of transcription factor complex [PMID:12374795, TaxID:9606; PMID:14633973, TaxID:10090; PMID:9288972, TaxID:10090; PMID:9702197, TaxID:10090]".nGO:0005737 "located_in cytoplasm [PMID:15280432, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:8774881, TaxID:9606; PMID:17142805, TaxID:9606; PMID:17142805, TaxID1090]".nGO:0007183 "participates_in SMAD protein complex assembly [PMID:9346966, TaxID:9606; PMID:15350224, TaxID:9606; PMID:10980615, TaxID:9606]".nGO:0030509 "participates_in BMP signaling pathway [PMID:16522160, TaxID:10090; PMID:14633973, TaxID:9606]".
pro
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0007183
http://purl.org/obo/owl/GO#GO_0007183
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
A smad4 that is a translation product of a processed transcript of the SMAD4 gene, and that contains the MH1 domain and the MH2 domain, as in the human sequence UniProtKB:P97471.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0003712
http://purl.org/obo/owl/GO#GO_0003712
smad4 sequence variant 1
MIM:175050 "agent_in JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A smad4 that is a translation product of the a polymorphic sequence variant of SMAD4 gene that has a Gly residue at the position equivalent to Glu-330 in human sequence UniProtKB:P97471.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:175050
http://purl.org/obo/owl/MIM#MIM_175050
smad4 sequence variant 2
MIM:175050 "agent_in JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME".nMIM:260350 "agent_in PANCREATIC CARCINOMA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
MIM:175050
http://purl.org/obo/owl/MIM#MIM_175050
A smad4 that is a translation product of the a polymorphic sequence variant of SMAD4 gene that has a Arg residue at the position equivalent to Gly-352 in human sequence UniProtKB:P97471.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:260350
http://purl.org/obo/owl/MIM#MIM_260350
smad4 sequence variant 3
MIM:175050 "agent_in JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A smad4 that is a translation product of the a polymorphic sequence variant of SMAD4 gene that has a Cys residue at the position equivalent to Arg-361 in human sequence UniProtKB:P97471.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:175050
http://purl.org/obo/owl/MIM#MIM_175050
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
smad4 sequence variant 4
MIM:175050 "agent_in JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A smad4 that is a translation product of the a polymorphic sequence variant of SMAD4 gene that has a Asp residue at the position equivalent to Gly-386 in human sequence UniProtKB:P97471.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:175050
http://purl.org/obo/owl/MIM#MIM_175050
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
smad4 sequence variant 5
MIM:260350 "agent_in PANCREATIC CARCINOMA".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A smad4 that is a translation product of the a polymorphic sequence variant of SMAD4 gene that has a His residue at the position equivalent to Asp-493 in human sequence UniProtKB:P97471.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:260350
http://purl.org/obo/owl/MIM#MIM_260350
smad5
pro
A BMP receptor-regulated smad protein that is a translation product of the SMAD5 gene.
PMID:10708949
http://purl.org/obo/owl/PMID#PMID_10708949
Mothers against decapentaplegic homolog 5
smad6
pro
Mothers against decapentaplegic homolog 6
An inhibitory smad protein that is a translation product of the SMAD6 gene. Inhibitor of bone morphogenetic protein (BMP) signaling, and the interaction with BMP type 1 receptors is a critical step in the function of smad6.
PMID:17493940
http://purl.org/obo/owl/PMID#PMID_17493940
smad7
pro
Mothers against decapentaplegic homolog 7
An inhibitory smad protein that is a translation product of the SMAD7 gene. Smad7 is a negative regulator of TGF-beta signaling.
PMID:17438144
http://purl.org/obo/owl/PMID#PMID_17438144
smad9
pro
MADH6
Mothers against decapentaplegic homolog 9
SMAD8
A BMP receptor-regulated smad protein that is a translation product of the SMAD9 gene.
PMID:10708948
http://purl.org/obo/owl/PMID#PMID_10708948
thrombospondin 1 isoform 1
MOD:00034 "has_modification L-cystine [PMID:12450399, TaxID:9606]".
pro
A thrombospondin 1 that is a translation product of a processed transcript of the THBS1 gene, comprising all core domains, as in the human sequence UniProtKB:P07996, and is the precursor of the mature protein.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
thrombospondin 2 isoform 1
pro
A thrombospondin 2 that is a translation product of a processed transcript of the THBS2 gene, comprising all core domains, as in the human sequence UniProtKB:P35442, and is the precursor of the mature protein.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
thrombospondin 3 isoform 1
GO:0005509 "has_function calcium ion binding".nGO:0007160 "participates_in cell-matrix adhesion".
pro
GO:0007160
http://purl.org/obo/owl/GO#GO_0007160
A thrombospondin 3 that is a translation product of a processed transcript of the THBS3 gene, comprising all core domains, as in the human sequence UniProtKB:P49746, and is the precursor of the mature protein.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005509
http://purl.org/obo/owl/GO#GO_0005509
thrombospondin 4 isoform 1
pro
A thrombospondin 4 that is a translation product of a processed transcript of the THBS4 gene, comprising all core domains, as in the human sequence UniProtKB:P35443, and is the precursor of the mature protein.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
transcription factor Sp1 isoform 1
GO:0003702 "has_function RNA polymerase II transcription factor activity [PMID:2170018, TaxID:9606; PMID:3139301]".nGO:0005634 "located_in nucleus [PMID:2170018, TaxID:9606]".
pro
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0003702
http://purl.org/obo/owl/GO#GO_0003702
A transcription factor Sp1 that is a translation product of a processed transcript of the SP1 gene, including all coding exons as in the human sequence UniProtKB:P08047.
PMID:10570957
http://purl.org/obo/owl/PMID#PMID_10570957
tumor necrosis factor alpha isoform 1
GO:0005887 "located_in integral to plasma membrane [PMID:3349526]".nGO:0006355 "participates_in regulation of transcription, DNA-dependent".nGO:0006915 "participates_in apoptosis [PMID:3856324]".nGO:0006916 "participates_in anti-apoptosis".nGO:0007159 "participates_in leukocyte adhesion".nGO:0007165 "participates_in signal transduction".nGO:0009615 "participates_in response to virus".
pro
A tumor necrosis factor alpha that is a translation product of a processed transcript of the TNF gene, and that contains a type II transmembrane domain, containing a C-terminus that is external to the cell and a cytoplasmic domain, as in the human sequence UniProtKB:P01375.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0006915
http://purl.org/obo/owl/GO#GO_0006915
GO:0006355
http://purl.org/obo/owl/GO#GO_0006355
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
GO:0006916
http://purl.org/obo/owl/GO#GO_0006916
GO:0007159
http://purl.org/obo/owl/GO#GO_0007159
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
GO:0009615
http://purl.org/obo/owl/GO#GO_0009615
BMP receptor type-1A isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
A BMPR1A isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
BMP receptor type-1B isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A BMPR1B isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP10 isoform 1
GO:0007507 "participates_in heart development [PMID:15073151, TaxID:10090]".
pro
GO:0007507
http://purl.org/obo/owl/GO#GO_0007507
A BMP10 that is a translation product of a processed transcript of the BMP10 gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:O95393. This form is the precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP2 isoform 1
GO:0001501 "participates_in skeletal development [PMID:2315314, TaxID:9606]".nGO:0007267 "participates_in cell-cell signaling [PMID:2315314, TaxID:9606]".nGO:0030509 "participates_in BMP signaling pathway [PMID:14623234, TaxID:10090]".
pro
GO:0001501
http://purl.org/obo/owl/GO#GO_0001501
A BMP2 that is a translation product of a processed transcript of the BMP2 gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:P12643. This form is a precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007267
http://purl.org/obo/owl/GO#GO_0007267
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
BMP4 isoform 1
GO:0005622 "located_in intracellular [PMID:12805376, TaxID:9606]".nGO:0007498 "participates_in mesoderm development [PMID:9804553, TaxID:9606]".
pro
A BMP4 that is a translation product of a processed transcript of the BMP4 gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:P12644. This form is a precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005622
http://purl.org/obo/owl/GO#GO_0005622
GO:0007498
http://purl.org/obo/owl/GO#GO_0007498
BMP5 isoform 1
pro
A BMP5 that is a translation product of a processed transcript of the BMP5 gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:P22003. This form is a precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP6 isoform 1
GO:0001501 "participates_in skeletal development [PMID:12702725, TaxID:9606; PMID:8089189, TaxID:10090]".nGO:0030509 "participates_in BMP signaling pathway [PMID:12702725, TaxID:9606; PMID:8089189, TaxID:10090]".
pro
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0001501
http://purl.org/obo/owl/GO#GO_0001501
A BMP6 that is a translation product of a processed transcript of the BMP6 gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:P22004. This form is a precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP7 isoform 1
GO:0001501 "participates_in skeletal development [PMID:2357959, TaxID:9606]".nGO:0005515 "has_function protein binding [PMID:12805376, TaxID:9606]".nGO:0005794 "located_in Golgi apparatus [PMID:12805376, TaxID:9606]".nGO:0030509 "participates_in BMP signaling pathway [PMID:14623234]".
pro
GO:0001501
http://purl.org/obo/owl/GO#GO_0001501
A BMP7 that is a translation product of a processed transcript of the BMP7 gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:P18075, that is the precursor of the mature protein.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005794
http://purl.org/obo/owl/GO#GO_0005794
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
BMP8A isoform 1
GO:0007283 "participates_in spermatogenesis [PMID:9463357, TaxID:10090]".nGO:0030509 "participates_in BMP signaling pathway [PMID:9463357, TaxID:10090]".
pro
A BMP8A that is a translation product of a processed transcript of the BMP8A gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:Q7Z5Y6, that is the precursor of the mature protein.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0007283
http://purl.org/obo/owl/GO#GO_0007283
BMP8B isoform 1
GO:0001501 "participates_in skeletal development [PMID:1460021, TaxID:9606]".nGO:0007283 "participates_in spermatogenesis [PMID:9463357, TaxID:10090; PMID: 8682296, TaxID:10090]".nGO:0030509 "participates_in BMP signaling pathway".
pro
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
A BMP8B that is a translation produce to a processed transcript of BMP8B gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:P34820. This form is a precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007283
http://purl.org/obo/owl/GO#GO_0007283
GO:0001501
http://purl.org/obo/owl/GO#GO_0001501
DNA-binding protein inhibitor ID-2 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A DNA-binding protein inhibitor ID-2 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
DNA-binding protein inhibitor ID-3 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
A DNA-binding protein inhibitor ID-2 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
DNA-binding protein inhibitor ID-3 isoform 1 ubiquitinated form
MOD:00688 "has_modification isopeptide crosslinked residues [PMID:15451666, TaxID:10090]".
pro
A DNA-binding protein inhibitor ID-3 isoform 1 that has been post-translationally modified to include an isopeptide crosslinked residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00688
http://purl.org/obo/owl/MOD#MOD_00688
GTP-binding protein RhoA isoform 1
pro
A GTP-binding protein RhoA that is a translation product of a processed transcript of the RhoA gene, represented by the human sequence UniProtKB:P61586.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
RING-box protein 2 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A RING-box protein 2 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 1 isoform 1
GO:0005796 "located_in Golgi lumen [PMID:1544940, TaxID:9606]".nGO:0006916 "participates_in anti-apoptosis [PMID:9918798, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:1544940, TaxID:9606]".nGO:0030879 "participates_in mammary gland development [PMID:1821856, TaxID:10090]".nGO:0042803 "has_function protein homodimerization activity [PMID:1544940, TaxID:9606]".
pro
GO:0030879
http://purl.org/obo/owl/GO#GO_0030879
A TGF-beta 1 that is a translation product of a processed transcript of the TGFB1 gene, and includes all core domains (signal peptide, latent associated peptide and a transforming growth factor beta like domain), as in the human sequence UniProtKB:P01137. This form is a precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0006916
http://purl.org/obo/owl/GO#GO_0006916
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0005796
http://purl.org/obo/owl/GO#GO_0005796
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
TGF-beta 1 sequence variant 1
Variant associated with higher bone mineral density and lower frequency of vertebral fractures. Increase levels of TGFB1 in serum [PMID: 9783545].nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:9783545, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a Pro residue at the position equivalent to Leu-10 in the human sequence UniProtKB:P01137.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
TGF-beta 1 sequence variant 2
GO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID: 11062463, TaxID:9606]".nGO:0044424 "located_in intracellular part [PMID:12493741, TaxID:9606]".nMIM:131300 "agent_in CAMURATI-ENGELMANN DISEASE [PMID:12493741, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".nSO:1000121 "has_agent mutation_causing_polypeptide_localization_change [PMID:12493741, TaxID:9606]".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:131300
http://purl.org/obo/owl/MIM#MIM_131300
SO:1000121
http://purl.org/obo/owl/SO#SO_1000121
A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a His residue at the position equivalent to Tyr-81 in the human sequence UniProtKB:P01137.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0044424
http://purl.org/obo/owl/GO#GO_0044424
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
TGF-beta 1 sequence variant 3
GO:0006916 "participates_in anti-apoptosis [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:12843182][PMID:12493741][PMID:11062463]".nGO:0008083 "has_function (increased) growth factor activity [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".nMIM:131300 "agent_in CAMURATI-ENGELMANN DISEASE [PMID:12493741, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a Cys residue at the position equivalent to Arg-218 in the human sequence UniProtKB:P01137.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0006916
http://purl.org/obo/owl/GO#GO_0006916
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
MIM:131300
http://purl.org/obo/owl/MIM#MIM_131300
GO:0008083
http://purl.org/obo/owl/GO#GO_0008083
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
TGF-beta 1 sequence variant 4
MIM:131300 "agent_in CAMURATI-ENGELMANN DISEASE [PMID:12493741, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a His residue at the position equivalent to Arg-218 in the human sequence UniProtKB:P01137.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:131300
http://purl.org/obo/owl/MIM#MIM_131300
TGF-beta 1 sequence variant 5
GO:0006916 "participates_in anti-apoptosis [PMID:12493741, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:12493741, TaxID:9606]".nMIM:131300 "agent_in CAMURATI-ENGELMANN DISEASE [PMID:12493741, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a Asp residue at the position equivalent to His-222 in the human sequence UniProtKB:P01137.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0006916
http://purl.org/obo/owl/GO#GO_0006916
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:131300
http://purl.org/obo/owl/MIM#MIM_131300
TGF-beta 1 sequence variant 6
GO:0005615 "located_in extracellular space [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".nGO:0006916 "participates_in anti-apoptosis [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".nGO:0008083 "has_function (increased) growth factor activity [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".nMIM:131300 "agent_in CAMURATI-ENGELMANN DISEASE [PMID:12493741, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A TGF-beta 1 that is a translation product of the a polymorphic sequence variant of TGFB1 gene that has a Arg residue at the position equivalent to Cys-225 in the human sequence UniProtKB:P01137.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0006916
http://purl.org/obo/owl/GO#GO_0006916
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0008083
http://purl.org/obo/owl/GO#GO_0008083
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:131300
http://purl.org/obo/owl/MIM#MIM_131300
TGF-beta 2 isoform 1
GO:0001525 "participates_in angiogenesis".nGO:0005125 "has_function cytokine activity".nGO:0030593 "participates_in neutrophil chemotaxis".nGO:0046982 "has_function protein heterodimerization activity".nGO:0050777 "participates_in negative regulation of immune response".
pro
GO:0005125
http://purl.org/obo/owl/GO#GO_0005125
GO:0001525
http://purl.org/obo/owl/GO#GO_0001525
GO:0046982
http://purl.org/obo/owl/GO#GO_0046982
GO:0030593
http://purl.org/obo/owl/GO#GO_0030593
GO:0050777
http://purl.org/obo/owl/GO#GO_0050777
isoform A
A TGF-beta 2 that is a translation product of a processed transcript of the TGFB2 gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:P61812-1. This form is a precursor an is upregulated in Alzheimer's disease.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 2(414)
TGF-beta 2 isoform 2
GO:0001525 "participates_in angiogenesis".nGO:0005125 "has_function cytokine activity".nGO:0030593 "participates_in neutrophil chemotaxis".nGO:0046982 "has_function protein heterodimerization activity".nGO:0050777 "participates_in negative regulation of immune response".
pro
isoform B
TGF-beta 2(442)
GO:0050777
http://purl.org/obo/owl/GO#GO_0050777
GO:0030593
http://purl.org/obo/owl/GO#GO_0030593
GO:0046982
http://purl.org/obo/owl/GO#GO_0046982
A TGF-beta 2 that is a translation product of a processed transcript of the TGFB2 gene, that has an insertion of around 30 amino acids in the propeptide region encoded by an additional cassette type exon, as in the exon between exons 1 and 2 (Exon 2b) in human.
PMID:2850146
http://purl.org/obo/owl/PMID#PMID_2850146
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:1777240
http://purl.org/obo/owl/PMID#PMID_1777240
PMID:16868931
http://purl.org/obo/owl/PMID#PMID_16868931
GO:0001525
http://purl.org/obo/owl/GO#GO_0001525
GO:0005125
http://purl.org/obo/owl/GO#GO_0005125
TGF-beta 3 isoform 1
GO:0007165 "participates_in signal transduction".nGO:0007267 "participates_in cell-cell signaling".nGO:0009887 "participates_in organ morphogenesis".nGO:0030879 "participates_in mammary gland development [PMID:1821856, TaxID:10090]".
pro
A TGF-beta 3 that is a translation product of a processed transcript of the TGFB3 gene, and includes all core domains (signal peptide, latent associated peptide and a transforming growth factor beta like domain), as in the human sequence UniProtKB:P10600-1. This form is a precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0030879
http://purl.org/obo/owl/GO#GO_0030879
GO:0007267
http://purl.org/obo/owl/GO#GO_0007267
GO:0009887
http://purl.org/obo/owl/GO#GO_0009887
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
TGF-beta receptor type-1 isoform 1 cleaved form
pro
A TGF-beta receptor type-1 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-1 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A TGFBR1 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-2 isoform 1 cleaved-1
GO:0005026 "has_function transforming growth factor beta receptor activity, type II".nGO:0005515 "has_function protein binding".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".nGO:0007181 "participates_in transforming growth factor beta receptor complex assembly".nGO:0008284 "participates_in positive regulation of cell proliferation".nGO:0016021 "located_in integral to membrane".nGO:0050431 "has_function transforming growth factor beta binding".
pro
GO:0050431
http://purl.org/obo/owl/GO#GO_0050431
GO:0016021
http://purl.org/obo/owl/GO#GO_0016021
GO:0008284
http://purl.org/obo/owl/GO#GO_0008284
GO:0007181
http://purl.org/obo/owl/GO#GO_0007181
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0005026
http://purl.org/obo/owl/GO#GO_0005026
A TGF-beta receptor type-2 isoform 1 cleaved form that has been processed to a mature receptor by removal of the signal peptide.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-2 phosphorylated 1
MOD:00046 "has_modification O-phosphorylated L-serine ".
pro
A TGF-beta receptor type-2 phosphorylated form that has been phosphorylated as a result of EGF signaling pathway activation.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
activin receptor type-1 isoform 1 cleaved and phosphorylated form
GO:0004675 "has_function transmembrane receptor protein serine/threonine kinase activity [PMID: 8389764]".nGO:0005887 "located_in integral to plasma membrane [PMID:8397373, TaxID:9606; PMID:8242742, TaxID:9606]".nGO:0007178 "participates_in transmembrane receptor protein serine/threonine kinase signaling pathway [PMID: 8389764, TaxID:9606; PMID:8242742, TaxID:9606; PMID:11376112, TaxID:10090]".nGO:0048179 "part_of activin receptor complex [PMID:8242742, TaxID:9606]".nGO:0048185 "has_function activin binding [PMID:8242742, TaxID:9606]".nMOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
GO:0004675
http://purl.org/obo/owl/GO#GO_0004675
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
GO:0007178
http://purl.org/obo/owl/GO#GO_0007178
An activin receptor type-1 isoform 1 from which the signal peptide has been cleaved, and that has been phosphorylated at Ser/Thr residues in the GS-motif. Phosphorylatiom by activated activin receptor type-2 activates its kinase activity.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0048185
http://purl.org/obo/owl/GO#GO_0048185
activin receptor type-1B isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
A ACVR1B isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
activin receptor type-1C isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
An activin receptor type-1C isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
activin receptor type-2A isoform 1 glycosylated and phosphorylated form
MOD:00693 "has_modification glycosylated residue".nMOD:00696 "has_modification phosphorylated residue".
pro
A activin receptor type-2A isoform 1 that has been post-translationally modified to include a glycosylated and a phosphorylated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
activin receptor type-2B isoform 1 glycosylated and phosphorylated form
MOD:00693 "has_modification glycosylated residue".nMOD:00696 "has_modification phosphorylated residue".
pro
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
A ACVR2B isoform 1 that has been post-translationally modified to include a glycosylated and a phosphorylated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
activin/inhibin beta A chain isoform 1
GO:0001541 "participates_in ovarian follicle development [PMID:9166111, TaxID:9606]".nGO:0007165 "participates_in signal transduction [PMID:3267209, TaxID:9606]".nGO:0007267 "participates_in cell-cell signaling [PMID:12456957, TaxID:9606]".nGO:0007399 "participates_in nervous system development [PMID:10320815, TaxID:9606]".nGO:0030154 "participates_in cell differentiation [PMID:12456957, TaxID:9606]".
pro
GO:0001541
http://purl.org/obo/owl/GO#GO_0001541
An activin/inhibin beta A chain that is a translation product of a processed transcript of the INHBA gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:P08476. This form is the precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:15319829
http://purl.org/obo/owl/PMID#PMID_15319829
GO:0007399
http://purl.org/obo/owl/GO#GO_0007399
GO:0030154
http://purl.org/obo/owl/GO#GO_0030154
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
GO:0007267
http://purl.org/obo/owl/GO#GO_0007267
activin/inhibin beta B chain isoform 1
GO:0050789 "paticipates_in regulation of biological process".
pro
An activin/inhibin beta B chain that is a translation product of a processed transcript of the INHBB gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:P08476. This form is the precursor.
PMID:15319829
http://purl.org/obo/owl/PMID#PMID_15319829
activin/inhibin beta E chain isoform 1
pro
An activin/inhibin beta E chain that is a translation product of a processed transcript of the INHBE gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:P58166. This form is the precursor.
PMID:11134153
http://purl.org/obo/owl/PMID#PMID_11134153
anti-Muellerian hormone isoform 1 cleaved and glycosylated form
MOD:00693 "has_modification glycosylated residue".
pro
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
An anti-Muellerian hormone isoform 1 that has been processed by proteolytic cleavage and has been post-translationally modified to include a glycosylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
c-myc isoform 1 acetylated form
MOD:00394 "has_modification acetylated residue".
pro
MOD:00394
http://purl.org/obo/owl/MOD#MOD_00394
A c-myc isoform 1 that has been post-translationally modified to include an acetylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
c-myc isoform 1 glycosylated form
MOD:00693 "has_modification glycosylated residue".
pro
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
A c-myc isoform 1 that has been post-translationally modified to include a glycosylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
c-myc isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
A c-myc isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
cartilage oligomeric matrix protein isoform 1 cleaved form
pro
A cartilage oligomeric matrix protein isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
chordin isoform 1 cleaved 1
GO:0001501 "participates_in skeletal development [PMID:11784076, TaxID:10090]".nGO:0005515 "has_function protein binding [PMID:15381701, TaxID:10090]".nGO:0005615 "located_in extracellular space [PMID:15780974, TaxID:10090; PMID:8752213, TaxID:8355]".nGO:0008201 "has_function heparin binding [PMID:15381701, TaxID:10090]".nGO:0030514 "participates_in negative regulation of BMP signaling pathway [PMID:15780974, TaxID:10090; PMID:10479448]".nGO:0043234 "part_of protein complex [PMID:8752213, TaxID:8355]".
pro
GO:0008201
http://purl.org/obo/owl/GO#GO_0008201
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0001501
http://purl.org/obo/owl/GO#GO_0001501
GO:0030514
http://purl.org/obo/owl/GO#GO_0030514
A chordin isoform 1 cleaved form that has processed by removal of the signal peptide.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
chordin isoform 1 cleaved 2
GO:0001501 "participates_in skeletal development [PMID:10479448, TaxID:10090]".nGO:0005615 "located_in extracellular space [PMID:10479448, TaxID:10090]".
pro
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0001501
http://purl.org/obo/owl/GO#GO_0001501
A chordin isoform 1 cleaved form that has been cleaved by BMP1 at two sites upstream of Asp residues. One site is within the motif Y[SN]DR, whereas the other is within the motif MQ[AS]DG. This form activates BMP signaling pathway.
UniProtKB:Q9Z0E2
http://purl.org/obo/owl/UniProtKB#UniProtKB_Q9Z0E2
PMID:10479448
http://purl.org/obo/owl/PMID#PMID_10479448
creb-binding protein isoform 1 methylated form
MOD:00427 "has_modification methylated residue".
pro
A CREBBP isoform 1 that has been post-translationally modified to include a methylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00427
http://purl.org/obo/owl/MOD#MOD_00427
cullin 1 isoform 1 neddylated form
pro
A cullin 1 isoform 1 that has been post-translationally modified to include a neddylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cyclin-dependent kinase 4 inhibitor B isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A CDKN2B isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
decorin isoform 1 cleaved and glycosylated form
MOD:00693 "has_modification glycosylated residue".
pro
A decorin isoform 1 that has been processed by proteolytic cleavage and has been post-translationally modified to include a glycosylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
decorin isoform 1 cleaved form
pro
A decorin isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
fas ligand isoform 1 cleaved form
pro
A fas ligand isoform FasL that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
fas ligand isoform 1 glycosylated form
MOD:00693 "has_modification glycosylated residue".
pro
A fas ligand isoform FasL that has been post-translationally modified to include a glycosylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
follistatin isoform 1 cleaved and glycosylated 1
GO:0005615 "located_in extracellular space [PMID:16150905, TaxID:9606]".
pro
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
A follistatin isoform 1 cleaved and glycosylated form that has been glycosylated and processed to a mature protein by removal of the signal peptide. This form is secreted and biologically active.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
follistatin isoform 1 cleaved and glycosylated 2
GO:0005615 "located_in extracellular space [PMID:16150905, TaxID:9606]".nGO:0017106 "has_function activin inhibitor activity [PMID:8340384, TaxID:9823]".nGO:0032926 "participates_in negative regulation of activin receptor signaling pathway".nMOD:00693 "has_modification glycosylated residue [PMID: 8340384, TaxID:9823]".
pro
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
GO:0032926
http://purl.org/obo/owl/GO#GO_0032926
GO:0017106
http://purl.org/obo/owl/GO#GO_0017106
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
A follistatin isoform 1 cleaved and glycosylated form that has been processed to a mature protein by cleavage after the signal peptide and further cleavage of the C-terminal residues up to, but not including, the acidic region.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:8340384
http://purl.org/obo/owl/PMID#PMID_8340384
FS303
follistatin isoform 2 cleaved and glycosylated 1
GO:0005615 "located_in extracellular space [PMID:16150905, TaxID:9606]".nGO:0017106 "has_function (increased) activin inhibitor activity [PMID:1906804; TaxID:9606; PMID:8340384, TaxID:9823]".nGO:0017106 "has_function activin inhibitor activity [PMID:8340384, TaxID:9823]".nGO:0032926 "participates_in negative regulation of activin receptor signaling pathway [PMID:1906804; TaxID:9606]".nGO:0046882 "participates_in negative regulation of follicle-stimulating hormone secretion".nMOD:00693 "has_modification glycosylated residue [PMID:1906804; TaxID:9606; PMID:8340384, TaxID:9823]".nMOD:00160 "has_modification N4-glycosyl-L-asparagine [PMID:15454184, TaxID:9606]".
pro
A follistatin isoform 2 cleaved and glycosylated form that has been processed to a mature protein by removal of the signal peptide.
PMID:16150905
http://purl.org/obo/owl/PMID#PMID_16150905
GO:0017106
http://purl.org/obo/owl/GO#GO_0017106
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0046882
http://purl.org/obo/owl/GO#GO_0046882
GO:0032926
http://purl.org/obo/owl/GO#GO_0032926
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
MOD:00160
http://purl.org/obo/owl/MOD#MOD_00160
growth/differentiation factor 5 isoform 1
GO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".nGO:0007267 "participates_in cell-cell signaling".
pro
GO:0007267
http://purl.org/obo/owl/GO#GO_0007267
A growth/differentiation factor 5 that is a translation product of a processed transcript of the GDF5 gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:P43026.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
growth/differentiation factor 5 sequence variant 1
GO:0005515 "has_function protein binding [PRO:000000164, PMID:9288098, TaxID:9606]".nGO:0005622 "located_in intracellular [PMID:9288098, TaxID:9606]".nGO:0008083 "NOT has_function growth factor activity [PMID:9288098, TaxID:9606]".nMIM:200700 "agent_in CHONDRODYSPLASIA, GREBE TYPE".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
A growth/differentiation factor 5 that is a translation product of the a polymorphic sequence variant of GDF5 gene that has a Tyr residue at the position equivalent to Cys-400 in the human sequence UniProtKB:P43026.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
GO:0005622
http://purl.org/obo/owl/GO#GO_0005622
MIM:200700
http://purl.org/obo/owl/MIM#MIM_200700
growth/differentiation factor 5 sequence variant 2
GO:0005615 "located_in extracellular space [PMID:16532400, TaxID:9606]".nMIM:610017 "agent_in MULTIPLE SYNOSTOSES SYNDROME 2".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A growth/differentiation factor 5 that is a translation product of the a polymorphic sequence variant of GDF5 gene that has a Leu residue at the position equivalent to Arg-438 in the human sequence UniProtKB:P43026.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:610017
http://purl.org/obo/owl/MIM#MIM_610017
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
growth/differentiation factor 5 sequence variant 3
MIM:228900 "agent_in FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:228900
http://purl.org/obo/owl/MIM#MIM_228900
A growth/differentiation factor 5 that is a translation product of the a polymorphic sequence variant of GDF5 gene that has a Pro residue at the position equivalent to Leu-441 in the human sequence UniProtKB:P43026.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
growth/differentiation factor 5 sequence variant 4
MP:0006279 "abnormal limb development".nPMID:8145850 "agent_in brachyopodism".nSO:1000098 "has_agent mutation_causing_polypeptide_truncation".
pro
A growth/differentiation factor 5 that is a translation product of the GDF5 gene with a mutation causing polypeptide truncation at a position equivalent to residue 185 in the mouse sequence UniProtKB:P43027.
PMID:8145850
http://purl.org/obo/owl/PMID#PMID_8145850
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MP:0006279
http://purl.org/obo/owl/MP#MP_0006279
SO:1000098
http://purl.org/obo/owl/SO#SO_1000098
bp-3J
growth/differentiation factor 5 sequence variant 5
MP:0006279 "abnormal limb development".nPMID:8145850 "agent_in brachyopodism".
pro
A growth/differentiation factor 5 that is a translation product of the GDF5 gene with a mutation causing a frameshift at a position equivalent to residue 376 in the mouse sequence UniProtKB:P43027.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MP:0006279
http://purl.org/obo/owl/MP#MP_0006279
growth/differentiation factor 7 isoform 1
pro
A growth/differentiation factor 7 that is a translation product of a processed transcript of the GDF7 gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the mouse sequence UniProtKB:P43029-1. This form is a precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
growth/differentiation factor 7 isoform 2
pro
A growth/differentiation factor 7 that is a translation product of a processed transcript of the GDF7 gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the mouse sequence UniProtKB:P43029-2. This form has a shorter propeptide as compared to PRO:000000442.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
inhibin beta C chain isoform 1
pro
A inhibin beta C chain protein that is a translation product of a processed transcript of the INHBC gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:P55103. This form is a precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
interferon gamma isoform 1 cleaved 1
GO:0005125 "has_function cytokine activity [PMID:11441112, TaxID:10090]".nGO:0050776 "participates_in regulation of immune response [PMID:11441112, TaxID:10090]".
pro
An interferon gamma isoform 1 cleaved form that is a mature protein.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005125
http://purl.org/obo/owl/GO#GO_0005125
GO:0050776
http://purl.org/obo/owl/GO#GO_0050776
interferon gamma isoform 1 cleaved and glycosylated 1
GO:0005133 "has_function interferon-gamma receptor binding [PMID:10986460, TaxID:9606]".nGO:0005615 "located_in extracellular space [PMID:6427223, TaxID:9606]".nGO:0042803 "has_function protein homodimerization activity [PMID:3109913, TaxID:9606]".nMOD:00160 "has_modification N4-glycosyl-L-asparagine".
pro
MOD:00160
http://purl.org/obo/owl/MOD#MOD_00160
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
An interferon gamma isoform 1 cleaved and glycosylated form that is a mature protein.
PMID:3109913
http://purl.org/obo/owl/PMID#PMID_3109913
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0005133
http://purl.org/obo/owl/GO#GO_0005133
interferon gamma isoform 1 cleaved and glycosylated 2
GO:0042803 "has_function protein homodimerization activity [PMID:1902591, TaxID:9606]".nMOD:00160 "has_modification N4-glycosyl-L-asparagine [PMID:6427223, TaxID:9606]".
pro
An interferon gamma isoform 1 cleaved and glycosylated form that is a mature protein with partial proteolytic degradation of the C-terminus.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
MOD:00160
http://purl.org/obo/owl/MOD#MOD_00160
latent-TGF-beta-binding protein 1 isoform 1 cleaved form
pro
A latent-TGF-beta-binding protein 1 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
latent-TGF-beta-binding protein 1 isoform 2 cleaved form
pro
A latent-TGF-beta-binding protein 1 isoform 1S that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
lefty 1 isoform 1
GO:0008285 "participates_in negative regulation of cell proliferation [PMID:15004567, TaxID:10090]".nGO:0009948 "participates_in anterior/posterior axis specification [PMID:15004567, TaxID:10090]".nGO:<new dbxref> "participates_in positive regulation of MAP kinase activity [PMID:11278322, TaxID:9606]".
pro
GO:0009948
http://purl.org/obo/owl/GO#GO_0009948
GO:0008285
http://purl.org/obo/owl/GO#GO_0008285
A lefty 1 that is a translation product of a processed transcript of the LEFTY1 gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:O75610. This form is a precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
lefty 2 isoform 1
GO:0007275 "participates_in multicellular organismal development [PMID:10053005, TaxID:9606]".nGO:0007309 "participates_in oocyte axis determination [PMID:10053005, TaxID:9606]".
pro
GO:0007309
http://purl.org/obo/owl/GO#GO_0007309
GO:0007275
http://purl.org/obo/owl/GO#GO_0007275
A lefty 2 that is a translation product of a processed transcript of the LEFTY2 gene, and that contains a signal peptide, a propeptide and a TGF-beta-like cysteine knot domain, as in the human sequence UniProtKB:O00292. This form is a precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
lefty 2 sequence variant 1
MIM:601877 "agent_in LEFT-RIGHT AXIS MALFORMATIONS".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
A lefty 2 that is a translation product of the LEFTY2 gene that has a Asn residue at the position equivalent to Ser-342 in the human sequence UniProtKB:O00292.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:601877
http://purl.org/obo/owl/MIM#MIM_601877
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
mitogen-activated protein kinase 1 isoform 1 cleaved and acetylated form
MOD:00408 "has_modification N-acetylated residue".
pro
A MAPK1 isoform 1 which N-terminus methionine has been cleaved, and has been post-translationally modified to include an acetylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:12665801
http://purl.org/obo/owl/PMID#PMID_12665801
MOD:00408
http://purl.org/obo/owl/MOD#MOD_00408
mitogen-activated protein kinase 1 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A MAPK1 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
mitogen-activated protein kinase 3 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A mitogen-activated protein kinase 3 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
nodal isoform 1 cleaved form
pro
A nodal isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
noggin isoform 1 cleaved 1
GO:0005515 "has_function protein binding [PRO:000000613, PMID:12478285, TaxID:9606]".nGO:0005615 "located_in extracellular space".nGO:0030514 "participates_in negative regulation of BMP signaling pathway [PMID:12478285, TaxID:9606]".
pro
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0030514
http://purl.org/obo/owl/GO#GO_0030514
A noggin isoform 1 cleaved form whose signal peptide has been removed.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
retinoblastoma-like protein 1 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A retinoblastoma-like protein 1 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
retinoblastoma-like protein 2 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A RBL2 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
rho-associated protein kinase 1 isoform 1 cleaved form
pro
A rho-associated protein kinase 1 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
rho-associated protein kinase 2 isoform 1 cleaved form
pro
A rho-associated protein kinase 2 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
rho-associated protein kinase 2 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
A rho-associated protein kinase 2 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
ribosomal protein S6 kinase beta 1 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
A ribosomal protein S6 kinase beta 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
ribosomal protein S6 kinase beta 1 isoform 2 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
A ribosomal protein S6 kinase beta 1 isoform 2 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
ribosomal protein S6 kinase beta 2 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A ribosomal protein S6 kinase beta 2 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad ubiquitination regulatory factor 1 isoform 1
GO:0004842 "has_function ubiquitin-protein ligase activity [PMID:10458166, TaxID:9606]".nGO:0005515 "has_function protein binding [PMID:16299379, TaxID:9606; PMID:11278251, TaxID:9606]".nGO:0005622 "located_in intracellular [PMID:14711801, TaxID:10090; PMID:10458166, TaxID:9606]".nGO:0006464 "participates_in protein modification process [PMID:10458166, TaxID:9606]".nGO:0030579 "paricipates_in ubiquitin-dependent SMAD protein catabolic process [PMID:12857866, TaxID:9606]".nGO:0042787 "participates_in protein ubiquitination during ubiquitin-dependent protein catabolic process [PMID:10458166, TaxID:9606]".
pro
GO:0042787
http://purl.org/obo/owl/GO#GO_0042787
GO:0005622
http://purl.org/obo/owl/GO#GO_0005622
GO:0006464
http://purl.org/obo/owl/GO#GO_0006464
A smad ubiquitination regulatory factor 1 that is a translation product of a processed transcript of the SMURF1 gene represented by the human sequence UniProtKB:Q9HCE7-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0004842
http://purl.org/obo/owl/GO#GO_0004842
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
smad1 isoform 1
GO:0005057 "has_function receptor signaling protein activity [PMID:10708949, TaxID:9606]".nGO:0005102 "has_function receptor binding [PMID:9748228, TaxID:9606; PMID:9136927, TaxID:9606]".nGO:0005515 "has_function protein binding [Q7Z3T8; PMID:17356069, TaxID:9606]".nGO:0005737 "located_in cytoplasm [PMID:10504300, TaxID:10090; PMID:17356069, TaxID:10090; PMID:11509558, TaxID:9606]".nGO:0005769 "located_in early endosome [PMID:17356069,TaxID:10090]".nGO:0007165 "participates_in signal transduction [PMID:8637600, TaxID:9606]".nGO:0016563 "NOT has_function transcription activator activity [PMID:12370310, TaxID:10090; PMID:17356069, TaxID:10090; PMID:8637600, TaxID:9606]".nGO:0030509 "participates_in BMP signaling pathway [PMID:15198985, TaxID:10090; 15331632, TaxID:10090; PMID:17356069, TaxID:10090; PMID:8653785, TaxID:9606]".
pro
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
GO:0005769
http://purl.org/obo/owl/GO#GO_0005769
GO:0005102
http://purl.org/obo/owl/GO#GO_0005102
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0005057
http://purl.org/obo/owl/GO#GO_0005057
A smad1 that is a translation product of a processed transcript of the SMAD1 gene, and that contains the MH1 domain and the MH2 domain, as in the human sequence UniProtKB:Q15797-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
smad2 isoform 1
GO:0005515 "has_function protein binding [PMID:8980228, TaxID:9606]".nGO:0005737 "located_in cytoplasm [PMID:15280432, TaxID:9606; PMID:17074053, TaxID:9606; PMID:14701940, TaxID:10090]".nGO:0005769 "located_in early endosome when bound to PRO:000000313 [PMID:12356868, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:8752209, TaxID:9609; PMID:11557747, TaxID:10090]".
pro
long isoform
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0005769
http://purl.org/obo/owl/GO#GO_0005769
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
A smad2 that is a translation product of a processed transcript of the SMAD2 gene, and that contains the MH1 domain with the region encoded by exon 3, and the MH2 domain, as in the human sequence UniProtKB:Q15796-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
smad2 isoform 2
GO:0005515 "has_function protein binding [PMID:8980228, TaxID:9606]".nGO:0005737 "located_in cytoplasm [PMID:15280432]".nGO:0007165 "participates_in signal transduction [PMID:8752209]".
pro
short isoform
exon3delta
A smad2 that is a translation product of a processed transcript of the SMAD2 gene, and that contains the MH1 domain without the region encoded by exon 3, and the MH2 domain, as in the human sequence UniProtKB:Q15796-2.
PMID:8752209
http://purl.org/obo/owl/PMID#PMID_8752209
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
smad2 sequence variant 1
GO:0003713 "NOT has_function transcription coactivator activity [PMID:8752209, TaxID:9606]".nGO:0007165 "participates_in signal transduction [PMID:8752209, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".nUMLS:C0009402 "agent_in carcinoma of the large intestine [PMID:8752209, TaxID:9606]".
pro
A smad2 that is a translation product of the a polymorphic sequence variant of SMAD2 gene that has a Cys residue at the position equivalent to Arg-133 in the human sequence UniProtKB:Q15796.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
UMLS:C0009402
http://purl.org/obo/owl/UMLS#UMLS_C0009402
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
smad2 sequence variant 2
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nUMLS:C0009402 "agent_in carcinoma of the large intestine".
pro
UMLS:C0009402
http://purl.org/obo/owl/UMLS#UMLS_C0009402
A smad2 that is a translation product of the a polymorphic sequence variant of SMAD2 gene that has a Arg residue at the position equivalent to Leu-440 in human sequence UniProtKB:Q15796.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
smad2 sequence variant 3
GO:0003713 "NOT has_function transcription coactivator activity [PMID:8752209, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".nUMLS:C0009402 "agent_in carcinoma of the large intestine [PMID:8752209, TaxID:9606]".
pro
UMLS:C0009402
http://purl.org/obo/owl/UMLS#UMLS_C0009402
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A smad2 that is a translation product of the a polymorphic sequence variant of SMAD2 gene that has a His residue at the position equivalent to Pro-445 in human sequence UniProtKB:Q15796.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad2 sequence variant 4
GO:0003713 "NOT has_function transcription coactivator activity [PMID:8752209, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".nUMLS:C0009402 "agent_in carcinoma of the large intestine [PMID:8752209, TaxID:9606]".
pro
UMLS:C0009402
http://purl.org/obo/owl/UMLS#UMLS_C0009402
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A smad2 that is a translation product of the a polymorphic sequence variant of SMAD2 gene that has a Glu residue at the position equivalent to Asp-450 in human sequence UniProtKB:Q15796.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad2 sequence variant 5
GO:0003713 "NOT has_function transcription coactivator activity [PMID:8673135, TaxID:9606]".nSO:1000097 "has_agent mutation_causing_amino_acid_deletion".nUMLS:C0009402 "agent_in carcinoma of the large intestine [PMID:8673135, TaxID:9606]".
pro
A smad2 that is a translation product of the SMAD2 gene with a mutation causing amino acid deletion at a position equivalent to region 344-458 in the human sequence UniProtKB:Q15796.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
UMLS:C0009402
http://purl.org/obo/owl/UMLS#UMLS_C0009402
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
smad3 isoform 1
GO:0005515 "has_function protein binding [PRO:000000313, PRO:000000523; PMID:12154125, TaxID:10090; PRO:000000313; PMID:12154125, TaxID:9606]".nGO:0005737 "located_in cytoplasm [PMID:17074053, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:12543979, TaxID:10090; PMID:8774881, TaxID:9606]".
pro
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
A smad3 that is a translation product of a processed transcript of the SMAD3 gene, and that contains the MH1 domain and the MH2 domain, as in the human sequence UniProtKB:P84022.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
smad4 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A smad4 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad5 isoform 1
GO:0005057 "has_function receptor signaling protein activity [PMID:8673135, TaxID:9606]".nGO:0005737 "located_in cytoplasm [PMID:10504300, TaxID:10090]".nGO:0007165 "participates_in signal transduction [PMID:16765933, TaxID:10090]".nGO:0016563 "NOT has_function transcription activator activity [PMID:10708949]".nGO:0030509 "participates_in BMP signaling pathway [PMID:16765933, TaxID:10090; PMID:16522160, TaxID:10090; PMID:8673135, TaxID:9606]".
pro
A smad5 that is a translation product of a processed transcript of the SMAD5 gene, and that contains the MH1 domain and the MH2 domain, as in the human sequence UniProtKB:Q99717.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
GO:0005057
http://purl.org/obo/owl/GO#GO_0005057
smad5 isoform 2
GO:0046332 "NOT has_function SMAD binding [PMID:10845932, TaxID:9606]".
pro
smad5 beta
A smad5 that is a translation product of a processed transcript of the SMAD5 gene comprising intron 6 generating a C-terminus truncated MH2 domain and a unique C-terminus sequence lacking the SSxS motif necessary for SMAD activation.
EST:AA169504
http://purl.org/obo/owl/EST#EST_AA169504
PMID:10845932
http://purl.org/obo/owl/PMID#PMID_10845932
smad6 isoform 1
GO:0004871 "has_function signal transducer activity".nGO:0005515 "has_function protein binding [PRO:000000647, PMID:9436979, TaxID:9606]".nGO:0030617 "has_function transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity [PMID:9436979, TaxID:9606]".
pro
GO:0030617
http://purl.org/obo/owl/GO#GO_0030617
GO:0004871
http://purl.org/obo/owl/GO#GO_0004871
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
A smad6 that is a translation product of a processed transcript of the SMAD6 gene, and that contains the MH1 domain and the MH2 domain, as in the human sequence UniProtKB:O43541-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad6 isoform 2
Pfam:PF03165 "NOT has_part MH1 domain".nGO:0004871 "has_function signal transducer activity [PMID:11284962, TaxID:9606]".nGO:0005515 "has_function protein binding [PMID:11284962, TaxID:9606]".nGO:0030617 "has_function transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity [PMID:11284962, TaxID:9606]".
pro
GO:0030617
http://purl.org/obo/owl/GO#GO_0030617
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0004871
http://purl.org/obo/owl/GO#GO_0004871
smad6s
short isoform
isoform B
A smad6 that is a translation product of a processed transcript of the SMAD6 gene, that lacks the MH1 domain. This form is exclusively expressed in coronary tissue and is upregulated in dissease heart tissue.
PMID:11284962
http://purl.org/obo/owl/PMID#PMID_11284962
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad7 isoform 1
GO:0005515 "has_function protein binding [PMID:9256479, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:11278814, TaxID:9606]".nGO:0006950 "participates_in response to stress".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:9215638, TaxID:9606; PMID:10823886, TaxID:9606]".nGO:0030617 "has_function transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity [PMID:9215638, TaxID:9606]".
pro
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0030617
http://purl.org/obo/owl/GO#GO_0030617
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0006950
http://purl.org/obo/owl/GO#GO_0006950
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
A smad7 that is a translation product of a processed transcript of the SMAD7 gene, and that contains the MH1 domain and the MH2 domain, as in the human sequence UniProtKB:O35253.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad9 isoform 1
GO:0005622 "located_in intracellular [PMID:10814522, TaxID:10090]".nGO:0048856 "participates_in anatomical structure development [PMID:15899870, TaxID:10090]".
pro
A smad9 that is a translation product of a processed transcript of the SMAD9 gene that lacks exon 3, and it is represented by the mouse sequence UniProtKB:Q9JIW5-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SMAD8a
MADH6b
GO:0048856
http://purl.org/obo/owl/GO#GO_0048856
GO:0005622
http://purl.org/obo/owl/GO#GO_0005622
smad9 isoform 2
GO:0005737 "located_in cytoplasm [PMID:10583507, TaxID:9606]".nGO:0030514 "participates_in negative regulation of BMP signaling pathway [PMID:10583507, TaxID:9606]".nGO:0046332 "has_function SMAD binding [PMID:10583507, TaxID:9606]".
pro
SMAD8b
A smad9 that is a translation product of a processed transcript of the SMAD9 gene that lacks exon 6 and therefore the C-terminus SSxS motif. Inhibits BMP signaling.
PMID:10583507
http://purl.org/obo/owl/PMID#PMID_10583507
GO:0046332
http://purl.org/obo/owl/GO#GO_0046332
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
GO:0030514
http://purl.org/obo/owl/GO#GO_0030514
smad9 isoform 3
pro
A smad9 that is a translation product of a processed transcript of the SMAD9 gene, and that contains the MH1 domain and the MH2 domain, as in the human sequence UniProtKB:O15198-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
thrombospondin 1 isoform 1 cleaved and glycosylated form
GO:0005615 "located_in extracellular space".nMOD:00693 "has_modification glycosylated residue".
pro
A thrombospondin 1 isoform 1 that has been processed by proteolytic cleavage and has been post-translationally modified to include a glycosylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
thrombospondin 1 isoform 1 cleaved form
GO:0005615 "located_in extracellular space [PMID:12498716, TaxID:10090; PMID: 15662972, TaxID:9606]".
pro
A thrombospondin 1 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
thrombospondin 2 isoform1 cleaved form
GO:0005615 "located_in extracellular space [PMID:17082774, TaxID:10090]".nMOD:00034 "has_modification L-cystine [PMID:1459996]".
pro
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
A thrombospondin 2 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
thrombospondin 3 isoform 1 cleaved form
pro
A thrombospondin 3 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
thrombospondin 4 isoform 1 cleaved form
pro
A thrombospondin 4 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
transcription factor Sp1 isoform 1 acetylated form
MOD:00394 "has_modification acetylated residue".
pro
MOD:00394
http://purl.org/obo/owl/MOD#MOD_00394
A transcription factor Sp1 isoform 1 that has been pos-translationally modified to include an acetylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
transcription factor Sp1 isoform 1 cleaved form
pro
A transcription factor Sp1 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
transcription factor Sp1 isoform 1 glycosylated form
MOD:00693 "has_modification glycosylated residue".
pro
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
A transcription factor Sp1 isoform 1 that has been post-translationally modified to include a glycosylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
transcription factor Sp1 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A SP1 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
transcription factor Sp1 isoform 1 sumoylated form
pro
A Sp1 isoform 1 that has been post-translationally modified to include a sumoylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
tumor necrosis factor alpha isoform 1 cleaved form
pro
A tumor necrosis factor alpha isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
tumor necrosis factor alpha isoform 1 myristoylated form
MOD:00650 "has_modification N-myristoylated residue".
pro
A tumor necrosis factor alpha isoform 1 that has been co-translationally modified to include a myristoylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00650
http://purl.org/obo/owl/MOD#MOD_00650
tumor necrosis factor alpha isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
A tumor necrosis factor alpha isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
BMP receptor type-1A isoform 1 phosphorylated 1
GO:0004674 "has_function protein serine/threonine kinase activity [PMID:12829744, TaxID:9606]".nGO:0006468 "participates_in protein amino acid phosphorylation [PMID:12065756, TaxID:9606]".nGO:0009986 "located_in cell surface [PMID:10712517, TaxID:9606]".nGO:0030509 "participates_in BMP signaling pathway [PMID:12829744, TaxID:9606]".nGO:0043235 "part_of receptor complex [PMID:15940369, TaxID:9606; PMID:12829744, TaxID:9606]".nGO:0046332 "has_function SMAD binding [PMID:9738003; PMID:10814522, TaxID:10090]".
pro
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
GO:0004674
http://purl.org/obo/owl/GO#GO_0004674
GO:0046332
http://purl.org/obo/owl/GO#GO_0046332
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
A BMP receptor type-1A isoform 1 phosphorylated form that has been phosphorylated at the GS-motif by the BMP receptor type-2 upon BMP ligand binding.
PMID:12829744
http://purl.org/obo/owl/PMID#PMID_12829744
BMP receptor type-1A isoform 1 phosphorylated 2
MOD:00046 "has_modification O-phosphorylated L-serine".
pro
A BMP receptor type-1A isoform 1 phosphorylated form that has been phosphorylated upon EGF induction.
PMID:17081983
http://purl.org/obo/owl/PMID#PMID_17081983
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
BMP receptor type-1B isoform 1 phoshorylated by BMPR2
GO:0001501 "participates_in skeletal development [PMID:14523231, TaxID:10090]".nGO:0001502 "participates_in cartilage condensation [PMID:14523231, TaxID:10090; PMID:10631181, TaxID:10090]".nGO:0009986 "located_in cell surface [PMID:10712517, TaxID:10090; PMID:14523231, TaxID:10090]".nGO:0030509 "participates_in BMP signaling pathway [PMID:10051328, TaxID:9606]".nGO:0035108 "participates_in limb morphogenesis [PMID:14523231, TaxID:10090]".nGO:0043235 "part_of receptor complex [PMID:10712517, TaxID:10090]".nGO:0045597 "participates_in positive regulation of cell differentiation [PMID:14523231, TaxID:9606]".
pro
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
A BMP receptor type-1B isoform 1 phosphorylated form that has been phosphorylated at the GS-motif by the BMP receptor type-2 upon BMP ligand binding.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0001502
http://purl.org/obo/owl/GO#GO_0001502
GO:0001501
http://purl.org/obo/owl/GO#GO_0001501
GO:0045597
http://purl.org/obo/owl/GO#GO_0045597
GO:0035108
http://purl.org/obo/owl/GO#GO_0035108
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
BMP2 isoform 1 cleaved form
pro
A BMP2 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP4 isoform 1 cleaved form
pro
A BMP4 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP5 isoform 1 cleaved form
pro
A BMP5 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP6 isoform 1 cleaved form
pro
A BMP6 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP7 isoform 1 cleaved and glycosylated form
pro
A BMP7 isoform 1 that has been processed by proteolytic cleavage and has been post-translationally modified to include a glycosylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP7 isoform 1 cleaved form
pro
A BMP7 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
DNA-binding protein inhibitor ID-2 isoform 1 phosphorylated 1
GO:0005634 "located_in nucleus [PMID:11706002, TaxID:10116]".nGO:0016564 "has_function (decreased) transcription repressor activity [PMID:9029153, TaxID:9606]".nGO:0051726 "participates_in regulation of cell cycle [PMID:9029153, TaxID:9606]".
pro
A DNA-binding protein inhibitor ID-2 isoform 1 phosphorylated form that has been phosphorylated at the Ser residue in the N-terminal SPVR motif.
PMID:9029153
http://purl.org/obo/owl/PMID#PMID_9029153
GO:0051726
http://purl.org/obo/owl/GO#GO_0051726
GO:0016564
http://purl.org/obo/owl/GO#GO_0016564
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
DNA-binding protein inhibitor ID-3 isoform 1 phosphorylated 1
GO:0051726 "participates_in regulation of cell cycle [PMID:9372912, TaxID:9606]".
pro
A DNA-binding protein inhibitor ID-3 isoform 1 phosphorylated form that has been phosphorylated at the Ser residue in the N-terminal SPVR motif.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0051726
http://purl.org/obo/owl/GO#GO_0051726
DNA-binding protein inhibitor ID-3 isoform 1 ubiquitinated 1
GO:0005737 "located_in cytoplasm [PMID:15451666, TaxID:10090]".
pro
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
A DNA-binding protein inhibitor ID-3 isoform 1 ubiquitinated that has been ubiquitinated by COP9 signalosome complex for degradation.
PMID:15451666
http://purl.org/obo/owl/PMID#PMID_15451666
GTP-binding protein RhoA isoform 1 prenylated form
MOD:00703 "has_modification isoprenylated residue".
pro
A GTP-binding protein RhoA isoform 1 that has been post-translationally modified to include an isoprenylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00703
http://purl.org/obo/owl/MOD#MOD_00703
RING-box protein 2 isoform 1 phosphorylated 1
MOD:00047 "has_modification O-phosphorylated L-threonine".nGO:0005634 "located_in nucleus [PMID:12748192, TaxID:9606]".nGO:0005737 "located_in cytoplasm [PMID:12748192, TaxID:9606]".
pro
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
A RING-box protein 2 isoform 1 phosphorylated form that has been phosphorylated at the most N-terminal Thr residue by CK2.
PMID:12748192
http://purl.org/obo/owl/PMID#PMID_12748192
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
MOD:00047
http://purl.org/obo/owl/MOD#MOD_00047
TGF-beta 1 isoform 1 cleaved and glycosylated form
MOD:00693 "has_modification glycosylated residue".
pro
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
A TGF-beta 1 isoform 1 that has been processed by proteolytic cleavage and has been post-translationally modified to include a glycosylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 1 isoform 1 cleaved form
pro
A TGF-beta 1 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 1 sequence variant 2 cleaved form
pro
A TGF-beta 1 sequence variant 2 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 1 sequence variant 3 cleaved form
pro
A TGF-beta 1 sequence variant 3 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 1 sequence variant 4 cleaved form
pro
A TGF-beta 1 sequence variant 4 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 1 sequence variant 5 cleaved form
pro
A TGF-beta 1 sequence variant 5 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 1 sequence variant 6 cleaved form
pro
A TGF-beta 1 sequence variant that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 2 isoform 1 cleaved form
pro
A TGF-beta 2 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 2 isoform 2 cleaved form
pro
A TGF-beta 2 isoform 2 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 3 isoform 1 cleaved form
pro
A TGF-beta 3 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-1 isoform 1 cleaved 1
GO:0005025 "has_function transforming growth factor beta receptor activity, type I".nGO:0005887 "located_in integral to plasma membrane".nGO:0007165 "participates_in signal transduction [PMID:8242743]".nGO:0007181 "participates_in transforming growth factor beta receptor complex assembly".
pro
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
GO:0007181
http://purl.org/obo/owl/GO#GO_0007181
GO:0005025
http://purl.org/obo/owl/GO#GO_0005025
A TGF-beta receptor type-1 isoform 1 cleaved form that has been processed to the mature protein by removal of the signal peptide.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta receptor type-1 isoform 1 phosphorylated 1
GO:0005025 "has_function transforming growth factor beta receptor activity, type I [PMID:7774578, TaxID:9606; PMID:8947046, TaxID:9606];".nGO:0005887 "located_in integral to plasma membrane [PMID:8947046, TaxID:9606]".nGO:0006468 "participates_in protein amino acid phosphorylation [PMID:7774578, TaxID:9606; PMID:12065756, TaxID:10090]".nGO:0007165 "participates_in signal transduction [PMID:8242743]".nGO:0007181 "participates_in transforming growth factor beta receptor complex assembly [PMID:8947046, TaxID:9606]".nMOD:00696 "has_modification phosphorylated residue".
pro
TGFBR1 sequence 1 phosphorylated in the GS-motif by TGFBR2. Phosphorylation of any of the Ser or Thr seems to be sufficient to transduce signal, however full activation is achieved when five of these residues are phosphorylated.
PMID:8947046
http://purl.org/obo/owl/PMID#PMID_8947046
PMID:7774578
http://purl.org/obo/owl/PMID#PMID_7774578
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
GO:0007181
http://purl.org/obo/owl/GO#GO_0007181
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
GO:0005025
http://purl.org/obo/owl/GO#GO_0005025
activin receptor type-1 isoform 1 cleaved and phosphorylated 1
pro
An activin receptor type-1 isoform 1 cleaved and glycosylated form that has cleavage of the signal peptide, and has been phosphorylated at Ser/Thr residues in GS-motif by the activated activin receptor type-2 (PRO:000000528, PRO:000000529).
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
activin receptor type-1B isoform 1 phosphorylated 1
GO:0005887 "located_in integral to plasma membrane [PMID:8397373, TaxID:9606]".nGO:0006468 "participates_in protein amino acid phosphorylation [PMID:12065756, TaxID:9606]".nGO:0009986 "located_in cell surface [PMID:12665502, TaxID:9606]".nGO:0016361 "has_function activin receptor activity, type I [PMID:8622651, TaxID:9606]".nGO:0046332 "has_function SMAD binding [PMI:12065756, TaxID:9606]".
pro
ACVR1B isoform 1 that is phosphorylated at Ser/Thr residues in GS-motif by activated activin receptor type-2, and constitutes an active receptor subunit.
PMID:8721982
http://purl.org/obo/owl/PMID#PMID_8721982
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:8622651
http://purl.org/obo/owl/PMID#PMID_8622651
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
GO:0016361
http://purl.org/obo/owl/GO#GO_0016361
GO:0046332
http://purl.org/obo/owl/GO#GO_0046332
activin receptor type-1B isoform 1 phosphorylated 2
GO:0005887 "located_in integral to plasma membrane [PMID:8397373, TaxID:9606]".nMOD:00048 "has_modification O4'-phosphorylated L-tyrosine".
pro
MOD:00048
http://purl.org/obo/owl/MOD#MOD_00048
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
ACVR1B isoform 1 that is phosphorylated at a Thr residue as a result of platelet activation.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:12112843
http://purl.org/obo/owl/PMID#PMID_12112843
activin receptor type-1C isoform 1 phosphorylated 1
GO:0005887 "located_in integral to plasma membrane [PMID:12606401, TaxID:9606]".nGO:0006468 "participates_in protein amino acid phosphorylation [PMID: 12065756, TaxID:9606]".nGO:0016361 "has_function activin receptor activity, type I [PMID:12063393, TaxID:9606; PMID:15196700, TaxID:9606]".nGO:0042981 "participates_in regulation of apoptosis [PMID:15531507, TaxID:9606]".nGO:0048179 "part_of activin receptor complex [PMID:15531507, TaxID:9606]".
pro
GO:0042981
http://purl.org/obo/owl/GO#GO_0042981
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
An activin receptor type-1C isoform 1 that is phosphorylated at Ser/Thr residues in the GS-motif by activated activin receptor type-2, and constitutes an active receptor subunit.
PMID:15196700
http://purl.org/obo/owl/PMID#PMID_15196700
GO:0016361
http://purl.org/obo/owl/GO#GO_0016361
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
activin receptor type-2A isoform 1 glycosylated and phosphorylated 1
GO:0004675 "has_function transmembrane receptor protein serine/threonine kinase activity".nGO:0005887 "located_in integral to plasma membrane [PMID:1314589, TaxID:9606]".nGO:0007178 "participates_in transmembrane receptor protein serine/threonine kinase signaling pathway [PMID:1314589, TaxID:9606]".nGO:0008584 "participates_in male gonad development [PMID:7885474, TaxID:10090]".nGO:0009952 "participates_in anterior/posterior pattern formation [PMID:16991118, TaxID:10090; PMID:10452853, TaxID:10090]".nGO:0016362 "has_function activin receptor activity, type II [PMID:12665502, TaxID:9606; PMID:8395525, TaxID:10090]".nGO:0019838 "has_function growth factor binding [PMID:11459935, TaxID10090; PMID:12414726, TaxID:10090]".nGO:0042803 "has_function protein homodimerization activity [PMID:8612709, TaxID10090]".nGO:0048179 "part_of activin receptor complex [PMID:8622651, TaxID:9606; PMID:8395525, TaxID:10090]".nMOD:00693 "has_modification glycosylated residue [PMID:8395525, TaxID:10090]".nMOD:00696 "has_modification phosphorylated residue [PMID:8395525, TaxID:10090]".
pro
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
GO:0007178
http://purl.org/obo/owl/GO#GO_0007178
GO:0004675
http://purl.org/obo/owl/GO#GO_0004675
GO:0016362
http://purl.org/obo/owl/GO#GO_0016362
GO:0019838
http://purl.org/obo/owl/GO#GO_0019838
GO:0008584
http://purl.org/obo/owl/GO#GO_0008584
GO:0009952
http://purl.org/obo/owl/GO#GO_0009952
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
An activin receptor type-2A isoform 1 glycosylated and phosphorylated form that has been phosphorylated at Ser/Thr residues, and constitutes an active receptor subunit.
PMID:8395525
http://purl.org/obo/owl/PMID#PMID_8395525
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
activin receptor type-2B isoform 1 glycosylated and phosphorylated 1
GO:0004675 "has_function transmembrane receptor protein serine/threonine kinase activity [PMID:1326537, TaxID:10090; PMID:8622651, TaxID:9606]".nGO:0005515 "has_function protein binding [Q9UNH7:PMID:11279102, TaxID:9606; P17813:PMID:9872992, TaxID:9606]".nGO:0005887 "located_in integral to plasma membrane [PMID:8161782, TaxID:9606]".nGO:0007178 "participates_in transmembrane receptor protein serine/threonine kinase signaling pathway [PMID:8721982, TaxID:10090]".nGO:0009952 "participates_in anterior/posterior pattern formation [PMID:16991118, TaxID:10090; PMID:10452853, TaxID:10090]".nGO:0016362 "has_function activin receptor activity, type II [PMID:8622651, TaxID:9606]".nGO:0019838 "has_function growth factor binding [PMID:11459935, TaxID:10090; PMID:12414726, TaxID:10090]".nGO:0032925 "participates_in regulation of activin receptor signaling pathway [PMID:8721982, TaxID:10090]".nGO:0048179 "part_of activin receptor complex [PMID:8622651, TaxID:9606]".nGO:0050431 "NOT has_function transforming growth factor beta binding [PMID:1326537, TaxID:10090]".nMOD:00006 "has_modification N-glycosylated residue".nMOD:00034 "has_modification L-cystine".
pro
An activin receptor type-2B isoform 1 glycosylated and phosphorylated form that has been glycosylated and has been phosphorylated at Ser/Thr residues, and constitutes an active activin receptor subunit.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0016362
http://purl.org/obo/owl/GO#GO_0016362
GO:0019838
http://purl.org/obo/owl/GO#GO_0019838
GO:0032925
http://purl.org/obo/owl/GO#GO_0032925
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
GO:0007178
http://purl.org/obo/owl/GO#GO_0007178
GO:0009952
http://purl.org/obo/owl/GO#GO_0009952
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
MOD:00006
http://purl.org/obo/owl/MOD#MOD_00006
GO:0004675
http://purl.org/obo/owl/GO#GO_0004675
activin/inhibin beta A chain isoform 1 cleaved form
pro
An activin/inhibin beta A chain isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
activin/inhibin beta B chain isoform 1 cleaved form
pro
An activin/inhibin beta B chain isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
activin/inhibin beta E chain isoform 1 cleaved form
pro
An activin/inhibin beta E chain isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
anti-Muellerian hormone isoform 1 cleaved and glycosylated 1
GO:0005576 "located_in extracellular region [PMID:8755541, TaxID:10116]".nGO:0046983 "has_function protein dimerization activity [PMID:14673134, TaxID:9606]".nMOD:00006 "has_modification N-glycosylated residue [PMID:14750901, TaxID:9606]".
pro
GO:0005576
http://purl.org/obo/owl/GO#GO_0005576
An anti-Muellerian hormone isoform 1 cleaved and glycosylated form that has been cleaved after the signal peptide and also at the dibasic cleavage site releasing the propeptide.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0046983
http://purl.org/obo/owl/GO#GO_0046983
MOD:00006
http://purl.org/obo/owl/MOD#MOD_00006
anti-Muellerian hormone isoform 1 cleaved and glycosylated 2
GO:0001880 "participates_in Mullerian duct regression [PMID:14750901, TaxID:9606; PMID:3754790, TaxID:9606]".nGO:0005102 "has_function receptor binding [PMID:14750901, TaxID:9606]".nGO:0005179 "has_function hormone activity".nGO:0005576 "located_in extracellular region [PMID:14750901, TaxID:9606; PMID:3754790, TaxID:9606]".nGO:0007267 "participates_in cell-cell signaling [PMID:3754790, TaxID:9606]".nGO:0007548 "participates_in sex differentiation [PMID:12834017, TaxID:9606]".nGO:0046983 "has_function protein dimerization activity [PMID:14673134, TaxID:9606]".nMOD:00006 "has_modification N-glycosylated residue [PMID:14750901, TaxID:9606]".
pro
GO:0005179
http://purl.org/obo/owl/GO#GO_0005179
GO:0005576
http://purl.org/obo/owl/GO#GO_0005576
GO:0007267
http://purl.org/obo/owl/GO#GO_0007267
GO:0007548
http://purl.org/obo/owl/GO#GO_0007548
GO:0046983
http://purl.org/obo/owl/GO#GO_0046983
MOD:00006
http://purl.org/obo/owl/MOD#MOD_00006
GO:0005102
http://purl.org/obo/owl/GO#GO_0005102
An anti-Muellerian hormone isoform 1 cleaved and glycosylated form that has been cleaved at the signal peptide and also at the dibasic cleavage site rendering the propeptide and the mature protein non-covalently bound.
PMID:14673134
http://purl.org/obo/owl/PMID#PMID_14673134
GO:0001880
http://purl.org/obo/owl/GO#GO_0001880
c-myc isoform 1 acetylated 1
GO:0003700 "has_function transcription factor activity [PMID:16126174, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:16126174, TaxID:9606]".nGO:0005667 "part_of transcription factor complex [PMID:16126174, TaxID:9606]".nMOD:00394 "has_modification acetylated residue".
pro
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
A c-myc isoform 1 acetylated form that has been acetylated at lysine residues by histone acetyltransferase PCAF.
PMID:16126174
http://purl.org/obo/owl/PMID#PMID_16126174
MOD:00394
http://purl.org/obo/owl/MOD#MOD_00394
c-myc isoform 1 glycosylated 1
GO:0003700 "has_function transcription factor activity [PMID:11904304, TaxID:9606]".nGO:0006357 "participates_in regulation of transcription from RNA polymerase II promoter [PMID:11904304, TaxID:9606]".nMOD:00806 "has_modification O-(N-acetylaminoglucosyl)-L-threonine".
pro
MOD:00806
http://purl.org/obo/owl/MOD#MOD_00806
GO:0006357
http://purl.org/obo/owl/GO#GO_0006357
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
A c-myc isoform 1 glycosylated form that has been O-glycosylated at the Thr residue within the L[LY]PTLTPPLS sequence of the myc box I in the amino-terminal regulatory domain, as in Thr-58 of the human isoform 1.
PMID:11904304
http://purl.org/obo/owl/PMID#PMID_11904304
PMID:7642555
http://purl.org/obo/owl/PMID#PMID_7642555
c-myc isoform 1 phosphorylated 1
GO:0003700 "has_function transcription factor activity [PMID:11018017, TaxID:10090]".nGO:0005634 "located_in nucleus [PMID:11018017, TaxID:10090]".nGO:0005667 "part_of transcription factor complex [PMID:11018017, TaxID:10090]".nGO:0006357 "participates_in regulation of transcription from RNA polymerase II promoter [PMID:11018017, TaxID:10090]".nGO:0008283 "participates_in cell proliferation [PMID:11018017, TaxID:10090]".nGO:0055072 "participates_in iron ion homeostasis [PMID:11018017, TaxID:10090]".nMOD:00046 "has_modification O-phosphorylated L-serine".
pro
GO:0008283
http://purl.org/obo/owl/GO#GO_0008283
GO:0006357
http://purl.org/obo/owl/GO#GO_0006357
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
GO:0055072
http://purl.org/obo/owl/GO#GO_0055072
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
A c-myc isoform 1 phosphorylated form that has been phosphorylated at the Ser residue within the L[LY]PTLTPPLS sequence of the myc box I in the amino-terminal regulatory domain by ERK through activation of Raf signaling pathway, as in Ser-62 of the human isoform 1.
PMID:11018017
http://purl.org/obo/owl/PMID#PMID_11018017
c-myc isoform 1 phosphorylated 2
GO:0003700 "NOT has_function transcription factor activity [PMID: 7623799, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID: 15503302, TaxID:10090; PMID:14563837, TaxID:10090]".nMOD:00046 "has_modification O-phosphorylated L-serine".nMOD:00047 "has_modification O-phosphorylated L-threonine".
pro
MOD:00047
http://purl.org/obo/owl/MOD#MOD_00047
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
A c-myc isoform 1 phosphorylated form that has been phosphorylated at the Ser and Thr residues within the L[LY]PTLTPPLS sequence of the myc box I in the amino-terminal regulatory domain, by ERK and GSK3, respectively. As in residues Thr-58/Ser-62 of the human isoform 1. This form is not stable and is degraded through the proteosome pathway.
PMID:14563837
http://purl.org/obo/owl/PMID#PMID_14563837
PMID:8386367
http://purl.org/obo/owl/PMID#PMID_8386367
c-myc isoform 1 phosphorylated 3
GO:0005634 "located_in nucleus [PMID:12676581, TaxID:9606]".nGO:0045766 "participates_in positive regulation of angiogenesis [PMID:12676581, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".
pro
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0045766
http://purl.org/obo/owl/GO#GO_0045766
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
A c-myc isoform 1 phosphorylated form that has been phosphorylated at serines residues of the myc box I in the amino-terminal regulatory domain by activation of ROCK proteins through Ras signaling pathway, as in Ser-62/Ser-71 of the human isoform 1.
UniProtKB:P01106
http://purl.org/obo/owl/UniProtKB#UniProtKB_P01106
PMID:12676581
http://purl.org/obo/owl/PMID#PMID_12676581
cartilage oligomeric matrix protein isoform 1 cleaved 1
GO:0005201 "has_function extracellular matrix structural constituent [PMID:9749943; TaxID:9606]".nGO:0005509 "has_function calcium ion binding".nGO:0005578 "located_in proteinaceous extracellular matrix [PMID:9749943; TaxID:9606]".nGO:0009887 "participates_in organ morphogenesis".nMOD:00034 "has_modification L-cystine".
pro
GO:0005509
http://purl.org/obo/owl/GO#GO_0005509
GO:0005201
http://purl.org/obo/owl/GO#GO_0005201
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
GO:0009887
http://purl.org/obo/owl/GO#GO_0009887
A cartilage oligomeric matrix protein isoform 1 cleaved form whose signal peptide has been removed and is a mature protein.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005578
http://purl.org/obo/owl/GO#GO_0005578
creb-binding protein isoform 1 methylated 1
GO:0000123 "NOT part_of histone acetyltransferase complex [PMID:11701890, TaxID:10090]".nGO:0005634 "located_in nucleus [PMID:11701890, TaxID:10090]".nMOD:00078 "has_modification omega-N-methylated L-arginine [P45481:Arg-600/Arg-624]".
pro
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
MOD:00078
http://purl.org/obo/owl/MOD#MOD_00078
A creb-binding protein isoform 1 methylated form that has been methylated at arginine residues within the KIX domain, as in Arg-600/Arg-624 of mouse isoform 1.
PMID:11701890
http://purl.org/obo/owl/PMID#PMID_11701890
cullin 1 isoform 1 neddylated 1
GO:0007050 "participates_in cell cycle arrest [PMID:8681378, TaxID:9606]".nGO:0008285 "participates_in negative regulation of cell proliferation [PMID:8681378, TaxID:9606]".nGO:0008629 "participates_in induction of apoptosis by intracellular signals [PMID:8681378, TaxID:9606]".nGO:0019005 "part_of SCF ubiquitin ligase complex [PMID:10713156, TaxID:9606; PMID:10921923, TaxID:9606; PMID:12665572, TaxID:10090; PMID:17098746, TaxID:9606]".nGO:0031146 "participates_in SCF-dependent proteasomal ubiquitin-dependent protein catabolic process [PMID:10713156, TaxID:9606; PMID:10921923, TaxID:9606]".nMOD:01150 "has_modification neddylated lysine [Q13616:Lys-720, PMID:10713156, TaxID:9606]".
pro
GO:0031146
http://purl.org/obo/owl/GO#GO_0031146
MOD:01150
http://purl.org/obo/owl/MOD#MOD_01150
GO:0008285
http://purl.org/obo/owl/GO#GO_0008285
GO:0008629
http://purl.org/obo/owl/GO#GO_0008629
A cullin 1 isoform 1 neddylated form that has been needylated in the conserved Lysine residue within the IVR[ILV]MKxR[RK] motif. Example: UniProtKB:Q13616-1 has_modification MOD:01150 neddylated lysine, Lys-720.
PMID:10713156
http://purl.org/obo/owl/PMID#PMID_10713156
GO:0007050
http://purl.org/obo/owl/GO#GO_0007050
cyclin-dependent kinase 4 inhibitor B isoform 1 phosphorylated 1
MOD:00047 "has_modification O-phosphorylated L-threonine [P55271:Thr-12, TaxID:10090]".
pro
CDKN2B phosphorylated in residue equivalent to Thr-12 in mouse sequence.
UniProtKB:P55271
http://purl.org/obo/owl/UniProtKB#UniProtKB_P55271
MOD:00047
http://purl.org/obo/owl/MOD#MOD_00047
decorin isoform 1 cleaved 1
GO:0005154 "has_function epidermal growth factor receptor binding [PMID:9988678, TaxID:9606]".nGO:0005578 "located_in proteinaceous extracellular matrix [PMID:17651433, TaxID:9606]".nGO:0030199 "participates_in collagen fibril organization PMID:17651433, TaxID:9606]".
pro
GO:0030199
http://purl.org/obo/owl/GO#GO_0030199
A decorin isoform 1 cleaved that has been processed to a mature protein by cleaveage of the signal peptide and propeptide, rendering the decorin protein core.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005154
http://purl.org/obo/owl/GO#GO_0005154
GO:0005578
http://purl.org/obo/owl/GO#GO_0005578
decorin isoform 1 cleaved and glycosylated 1
GO:0005154 "has_function epidermal growth factor receptor binding [PMID:9988678, TaxID:9606]".nGO:0005578 "located_in proteinaceous extracellular matrix [PMID:9988678, TaxID:9606; PMID:17651433, TaxID:9606]".nGO:0030199 "participates_in collagen fibril organization PMID:17651433, TaxID:9606]".nMOD:00006 "has_modification N-glycosylated residue".nMOD:00814 "has_modification O-xylosyl-L-serine".
pro
GO:0005154
http://purl.org/obo/owl/GO#GO_0005154
GO:0005578
http://purl.org/obo/owl/GO#GO_0005578
MOD:00814
http://purl.org/obo/owl/MOD#MOD_00814
MOD:00006
http://purl.org/obo/owl/MOD#MOD_00006
A decorin isoform 1 cleaved and glycosylated form that has been processed to a mature protein by cleaveage of the signal peptide and propeptide, and has been modified with O-linked glycosaminoglycan at the most N-terminal SG site and additional N-linked glycosylated Asn residues.
PMID:16258169
http://purl.org/obo/owl/PMID#PMID_16258169
GO:0030199
http://purl.org/obo/owl/GO#GO_0030199
fas ligand isoform 1 glycosylated 1
N-glycosylation does not appear to be required for receptor binding or biological activity.nGO:0005102 "has_function receptor binding [PMID:9405425, TaxID:9606]".nGO:0008624 "participates_in induction of apoptosis by extracellular signals [PMID:9405425, TaxID:9606]".nMOD:00006 "has_modification N-glycosylated residue [P48023-1:Asn-184/Asn-250/Asn-260, PMID:9405425, TaxID:9606]".
pro
GO:0008624
http://purl.org/obo/owl/GO#GO_0008624
A fas ligand isoform 1 glycosylated form that has been glycosylated at the Asn residues within the N-glycosylation sites located in the C-terminal extracellular region. This glycosylation does not appear to be required for receptor binding or biological activity.
PMID:9405425
http://purl.org/obo/owl/PMID#PMID_9405425
MOD:00006
http://purl.org/obo/owl/MOD#MOD_00006
GO:0005102
http://purl.org/obo/owl/GO#GO_0005102
fas ligand isoform FasL soluble
GO:0005102 "has_function receptor binding [PMID:9405425, TaxID:9606]".nGO:0005615 "located_in extracellular space [PMID:7536672, TaxID:9606]".nGO:0042802 "has_function identical protein binding [PMID:7536672, TaxID:9606; PMID:9228058, TaxID:9606; PMID:9405425, TaxID:9606]".nGO:0043066 "participates_in negative regulation of apoptosis [PMID:9396774, TaxID:9606]".
pro
GO:0043066
http://purl.org/obo/owl/GO#GO_0043066
A fas ligand isoform 1 cleaved form that has been processed to the soluble form.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0042802
http://purl.org/obo/owl/GO#GO_0042802
GO:0005102
http://purl.org/obo/owl/GO#GO_0005102
growth/differentiation factor 5 cleaved form
pro
A growth/differentiation factor 5 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
growth/differentiation factor 7 isoform 1 cleaved form
pro
A growth/differentiation factor 7 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
decorin isoform 1 cleaved 2
GO:0005578 "located_in proteinaceous extracellular matrix [PMID:12621051, TaxID:9606]".
pro
GO:0005578
http://purl.org/obo/owl/GO#GO_0005578
decorunt
A decorin isoform 1 cleaved form that has been cleaved after the Phe residue within the F[NS]GLS motif as a result of the catabolic processing of decorin. This form lacks most of the leucine-rich domains and is abundant in adult skin tissue.
PMID:12621051
http://purl.org/obo/owl/PMID#PMID_12621051
inhibin beta C chain isoform 1 cleaved form
pro
An inhibin beta C chain isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
latent-TGF-beta-binding protein 1 isoform 2 cleaved 1
GO:0005515 "has_function protein binding [PRO:000000617, PMID:10930463, TaxID:9606]".nGO:0005615 "located_in extracellular space [PMID:9008713, TaxID10090]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:11104663; PMID:7730318, TaxID:10090]".nGO:0043234 "part_of protein complex with PRO:000000618 [PMID:10930463, TaxID:9606; PMID:11104663]".
pro
A latent-TGF-beta-binding protein 1 isoform 2 cleaved whose signal peptide has been removed. This form binds covalently to the latent associated peptide of the transforming growth factors through the third TB domain by disulfide bridging.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:14607119
http://purl.org/obo/owl/PMID#PMID_14607119
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
latent-TGF-beta-binding protein 1 isoform cleaved 1
GO:0005024 "has_function transforming growth factor beta receptor activity [PMID:8537398, TaxID:9606]".nGO:0005578 "located_in proteinaceous extracellular matrix [PMID:8537398, TaxID:9606]".
pro
A latent-TGF-beta-binding protein 1 isoform 1 cleaved whose signal peptide has been removed. This form binds covalently to the latent associated peptide of the transforming growth factors through the third TB domain by disulfide bridging.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005578
http://purl.org/obo/owl/GO#GO_0005578
GO:0005024
http://purl.org/obo/owl/GO#GO_0005024
lefty 1 isoform 1 cleaved form
pro
A lefty 1 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
lefty 2 isoform 1 cleaved form
pro
A lefty 2 isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
mitogen-activated protein kinase 1 isoform 1 phosphorylated 1
GO:0000165 "participates_in MAPKKK cascade [PMID:8626447, TaxID:10090]".nGO:0004672 "has_function protein kinase activity [PMID:14744933, TaxID:10090; PMID:10706854, TaxID:9606]".nGO:0004707 "has_function MAP kinase activity [PMID:12223545, TaxID:10090; PMID:15314156, TaxID:10090; PMID:11684667, TaxID:10090; PMID:8626447, TaxID:10090; PMID:10706854, TaxID:9606]".nGO:0005515 "has_function protein binding [P19419:PMID:16291755, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:11726647, TaxID:10090; PMID:16251435, TaxID:10090; PMID:16251435, TaxID:10090; PMID:12925581, TaxID:10090]".nGO:0006468 "participates_in protein amino acid phosphorylation [PMID:15284227, TaxID:10090]".nGO:0006917 "participates_in induction of apoptosis [PMID:10958679, TaxID:9606]".nGO:0006935 "participates_in chemotaxis [PMID:10706854, TaxID:9606]".nGO:0007165 "participates_in signal transduction [PMID:11684667, TaxID:10090; PMID:1540184, TaxID:9606]".nGO:0042803 "has_function protein homodimerization activity [PMID:9604935, TaxID:10116]".nMOD:00047 "has_modification O-phosphorylated L-threonine".nMOD:00048 "has_modification O4'-phosphorylated L-tyrosine".
pro
MOD:00048
http://purl.org/obo/owl/MOD#MOD_00048
MOD:00047
http://purl.org/obo/owl/MOD#MOD_00047
GO:0004672
http://purl.org/obo/owl/GO#GO_0004672
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
GO:0000165
http://purl.org/obo/owl/GO#GO_0000165
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
GO:0006935
http://purl.org/obo/owl/GO#GO_0006935
GO:0006917
http://purl.org/obo/owl/GO#GO_0006917
A MAPK1 isoform 1 phosphorylated form that is phosphorylated at both Thr and Tyr of the TxY motif within the protein kinase domain.
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0004707
http://purl.org/obo/owl/GO#GO_0004707
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
ERK-2 active form
mitogen-activated protein kinase 3 isoform 1 phosphorylated 1
GO:0004672 "has_function protein kinase activity [PMID:16581800, TaxID:906;PMID:15314156, TaxID:10090; PMID:11684667, TaxID:10090]".nGO:0004707 "has_function MAP kinase activity [PMID:15314156, TaxID:10090; PMID:11684667, TaxID:10090]".nGO:0005515 "has_function protein binding".nGO:0005634 "located_in nucleus [PMID:11726647, TaxID:10090]".nGO:0006468 "participates_in protein amino acid phosphorylation [PMID:7687743, TaxID:9606; PMID:15383658, TaxID:10090; PMID:11841548, TaxID:10090]".nGO:0051726 "participates_in regulation of cell cycle [PMID:7687743, TaxID:9606]".nMOD:00047 "has_modification O-phosphorylated L-threonine".nMOD:00048 "has_modification O4'-phosphorylated L-tyrosine".
pro
GO:0004672
http://purl.org/obo/owl/GO#GO_0004672
MOD:00047
http://purl.org/obo/owl/MOD#MOD_00047
MOD:00048
http://purl.org/obo/owl/MOD#MOD_00048
A mitogen-activated protein kinase 3 isoform 1 phosphorylated form that is phosphorylated at both Thr and Tyr of the TxY motif within the protein kinase domain.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:17192257
http://purl.org/obo/owl/PMID#PMID_17192257
ERK1 active
MAPK3 active form
GO:0051726
http://purl.org/obo/owl/GO#GO_0051726
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0004707
http://purl.org/obo/owl/GO#GO_0004707
nodal isoform 1 cleaved 1
GO:0005615 "located_in extracellular space [PMID: 15649361, TaxID:10090]".nGO:0007368 "participates_in determination of left/right symmetry [PMID:12654299, TaxID:10090]".nGO:0009952 "participates_in anterior/posterior pattern formation [PMID:15004567, TaxID:10090]".nGO:0042803 "has_function protein homodimerization activity [PMID: 15649361, TaxID:10090]".
pro
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
GO:0009952
http://purl.org/obo/owl/GO#GO_0009952
GO:0007368
http://purl.org/obo/owl/GO#GO_0007368
A nodal isoform 1 cleaved form that has been processed to the mature peptide by removal of the signal peptide.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
retinoblastoma-like protein 1 isoform 1 phosphorylated 1
GO:0005515 "has_function protein binding [PMID: 11884610, TaxID:9606]".nGO:0030308 "NOT has_function negative regulation of cell growth [PMID: 11884610, TaxID:9606]".nGO:0051726 "participates_in regulation of cell cycle [PMID: 11884610, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".nMOD:00047 "has_modification O-phosphorylated L-threonine".
pro
MOD:00047
http://purl.org/obo/owl/MOD#MOD_00047
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0051726
http://purl.org/obo/owl/GO#GO_0051726
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
A retinoblastoma-like protein 1 phosphorylated form that has been phosphorylated in a RxL motif-dependent fashion by cyclin Cdk4.
PMID:11884610
http://purl.org/obo/owl/PMID#PMID_11884610
retinoblastoma-like protein 2 isoform 1 phosphorylated 1
GO:0005515 "NOT has_function protein binding [Q16254:PMID:11157749, TaxID:9606]".nGO:0030308 "NOT has_function negative regulation of cell growth [PMID:11157749, TaxID:9606]".nGO:0051726 "participates_in regulation of cell cycle [PMID:8710362, TaxID:9606; PMID:11157749, TaxID:9606; PMID:11042701, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".nMOD:00047 "has_modification O-phosphorylated L-threonine".
pro
A retinoblastoma-like protein 2 isoform 1 phosphorylated form that has been phosphorylated during Go/G1-S phase progression.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00047
http://purl.org/obo/owl/MOD#MOD_00047
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
GO:0051726
http://purl.org/obo/owl/GO#GO_0051726
retinoblastoma-like protein 2 isoform 1 phosphorylated 2
GO:0005515 "has_function protein binding [Q13309, PMID:12006580, TaxID:9606]".nGO:0030308 "NOT has_function negative regulation of cell growth [PMID:12006580, TaxID:9606]".nGO:0051726 "participates_in regulation of cell cycle [PMID:12006580, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".
pro
A retinoblastoma-like protein 2 isoform 1 phosphorylated form that has Cdk-dependent G1 phosphorylation, and additionally phosphorylated at a Serine residue within the region linking the retinoblastoma-associated protein A and B domains, by cyclin Cdk4(6). This phosphorylation leads to ubiquitin-dependent proteolysis.
PMID:12435635
http://purl.org/obo/owl/PMID#PMID_12435635
PMID:12006580
http://purl.org/obo/owl/PMID#PMID_12006580
GO:0051726
http://purl.org/obo/owl/GO#GO_0051726
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
retinoblastoma-like protein 2 isoform 1 phosphorylated 3
GO:0005515 "has_function protein binding [Q16254:PMID:11157749, TaxID:9606; PMID:11042701, TaxID:9606]".nGO:0005667 "part_of transcription factor complex [PMID:10082561, TaxID:10090]".nGO:0051726 "participates_in regulation of cell cycle [PMID:8710362, TaxID:9606; PMID:11157749, TaxID:9606; PMID:11042701, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".
pro
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
A retinoblastoma-like protein 2 isoform 1 phosphorylated form as observed in quiescent cells.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0051726
http://purl.org/obo/owl/GO#GO_0051726
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
rho-associated protein kinase 1 isoform 1 cleaved 1
GO:0004674 "has_function (increased) protein serine/threonine kinase activity [PMID:11283607, TaxID:9606]".nGO:0006468 "participates_in protein amino acid phosphorylation [PMID:11283607, TaxID:9606]".nGO:0030036 "participates_in actin cytoskeleton organization and biogenesis [PMID:11283607, TaxID:9606; PMID:16983089, TaxID:10090]".
pro
A rho-associated protein kinase 1 isoform 1 cleaved form that has been processed by caspase-3 in the sequence motif DETD, removing the inhibitory C-terminus. This form has been found significantly elevated in mouse myopathy model and human heart failure patients.
PMID:11283607
http://purl.org/obo/owl/PMID#PMID_11283607
PMID:16983089
http://purl.org/obo/owl/PMID#PMID_16983089
GO:0004674
http://purl.org/obo/owl/GO#GO_0004674
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
GO:0030036
http://purl.org/obo/owl/GO#GO_0030036
rho-associated protein kinase 2 isoform 1 cleaved 1
GO:0004674 "has_function (increased) protein serine/threonine kinase activity [PMID:15699075, TaxID:9606]".nGO:0005622 "located_in intracellular".nGO:0006468 "participates_in protein amino acid phosphorylation [PMID:15699075, TaxID:9606]".nGO:0030036 "participates_in actin cytoskeleton organization and biogenesis [PMID:15699075, TaxID:9606]".
pro
GO:0030036
http://purl.org/obo/owl/GO#GO_0030036
GO:0005622
http://purl.org/obo/owl/GO#GO_0005622
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
GO:0004674
http://purl.org/obo/owl/GO#GO_0004674
A rho-associated protein kinase 1 isoform 2 cleaved form that has been cleaved in the granzyme B consensus motif [IVL][GE]xD located between the rho binding and the PH domains, removing the C-terminus. This form has constitutive kinase activity.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
rho-associated protein kinase 2 isoform 1 phosphorylated 1
GO:0004674 "has_function protein serine/threonine kinase activity [PMID:17446864, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:15302935, TaxID:9606]".nGO:0006468 "participates_in protein amino acid phosphorylation [PMID:17446864, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".
pro
GO:0004674
http://purl.org/obo/owl/GO#GO_0004674
A rho-associated protein kinase 2 isoform 1 phosphorylated form that has been phosphorylated by the serine/threonine-protein kinase PLK1 in the C-terminal region.
PMID:17446864
http://purl.org/obo/owl/PMID#PMID_17446864
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0006468
http://purl.org/obo/owl/GO#GO_0006468
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
rho-associated protein kinase 2 isoform 1 phosphorylated 2
GO:0006975 "participates_in DNA damage induced protein phosphorylation [PMID:17525332, TaxID:9606]".nMOD:00047 "has_modification O-phosphorylated L-threonine".
pro
A rho-associated protein kinase 2 isoform 1 phosphorylated form that has been induced by DNA damage.
PMID:17525332
http://purl.org/obo/owl/PMID#PMID_17525332
GO:0006975
http://purl.org/obo/owl/GO#GO_0006975
MOD:00047
http://purl.org/obo/owl/MOD#MOD_00047
ribosomal protein S6 kinase beta 1 isoform 1 phosphorylated 1
GO:0004672 "has_function protein kinase activity [PMID:1922062, TaxID:9606]".nGO:0007165 "participates_in signal transduction [PMID:1922062, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".nMOD:00047 "has_modification O-phosphorylated L-threonine".
pro
GO:0004672
http://purl.org/obo/owl/GO#GO_0004672
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
MOD:00047
http://purl.org/obo/owl/MOD#MOD_00047
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
A ribosomal protein S6 kinase beta 1 isoform 1 phosphorylated within the AGC-kinase C-terminal domain. These sites serves as phosphorylation-regulated switches to control both intra- and inter-molecular interactions. Without these priming phosphorylations, the kinases are catalytically inactive.
PMID:1922062
http://purl.org/obo/owl/PMID#PMID_1922062
ribosomal protein S6 kinase beta 1 isoform 2 phosphorylated 1
GO:0004672 "has_function protein kinase activity [PMID:1922062, TaxID:9606]".nGO:0007165 "participates_in signal transduction [PMID:1922062, TaxID:9606]".
pro
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
GO:0004672
http://purl.org/obo/owl/GO#GO_0004672
A ribosomal protein S6 kinase beta 1 isoform 2 phosphorylated form that has been phosphorylated within the AGC-kinase C-terminal domain. These sites serve as phosphorylation-regulated switches to control both intra- and inter-molecular interactions. Without these priming phosphorylations, the kinases are catalytically inactive.
PMID:1922062
http://purl.org/obo/owl/PMID#PMID_1922062
ribosomal protein S6 kinase beta 2 isoform 1 phosphorylated 1
MOD:00046 "has_modification O-phosphorylated L-serine".
pro
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
A ribosomal protein S6 kinase beta 2 phosphorylated form that has been phosphorylated upon activation of EGF receptor signaling pathway.
PMID:17081983
http://purl.org/obo/owl/PMID#PMID_17081983
smad1 isoform 1 phosphorylated and ubiquitinated form
MOD:00688 "has_modification isopeptide crosslinked residues".nMOD:00696 "has_modification phosphorylated residue".
pro
MOD:00688
http://purl.org/obo/owl/MOD#MOD_00688
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A smad1 isoform 1 that has been post-translationally modified to include phosphorylated and ubiquitinated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad1 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
A smad1 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
smad2 isoform 1 acetylated and phosphorylated form
MOD:00394 "has_modification acetylated residue".nMOD:00696 "has_modification phosphorylated residue".
pro
A smad2 isoform 1 that has been post-translationally modified to include acetylated and phosphorylated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00394
http://purl.org/obo/owl/MOD#MOD_00394
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
smad2 isoform 1 phosphorylated and ubiquitinated form
MOD:00688 "has_modification isopeptide crosslinked residues".nMOD:00696 "has_modification phosphorylated residue".
pro
A smad2 isoform 1 that has been post-translationally modified to include phosphorylated and ubiquitinated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00688
http://purl.org/obo/owl/MOD#MOD_00688
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
smad2 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
A smad2 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
smad2 isoform 2 acetylated and phosphorylated form
MOD:00394 "has_modification acetylated residue".nMOD:00696 "has_modification phosphorylated residue".
pro
A smad2 isoform 2 that has been post-translationally modified to include acetylated and phosphorylated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
MOD:00394
http://purl.org/obo/owl/MOD#MOD_00394
smad2 isoform 2 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
A smad2 isoform 2 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
smad3 isoform 1 acetylated and phosphorylated form
MOD:00394 "has_modification acetylated residue".nMOD:00696 "has_modification phosphorylated residue".
pro
MOD:00394
http://purl.org/obo/owl/MOD#MOD_00394
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A smad3 isoform 1 that has been post-translationally modified to include acetylated and phosphorylated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad3 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
A smad3 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
smad4 isoform 1 phosphorylated 1
GO:0003700 "has_function (increased) transcription factor activity [PMID:12801888, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:12801888, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:12801888, TaxID:9606]".nMOD:00696 "has_modification phosphorylated residue".
pro
A smad4 isoform 1 phosphorylated form that has been phosphorylated at the PxTP motif within the MH1-MH2 domain linker region.
PMID:12801888
http://purl.org/obo/owl/PMID#PMID_12801888
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
smad5 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
A smad5 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
smad6 isoform 1 methylated form
MOD:00658 "has_modification methylated L-arginine".
pro
MOD:00658
http://purl.org/obo/owl/MOD#MOD_00658
A smad6 isoform 1 that has been post-translationally modified to include a methylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad7 isoform 1 acetylated form
MOD:00394 "has_modification acetylated residue".
pro
MOD:00394
http://purl.org/obo/owl/MOD#MOD_00394
A smad7 isoform 1 that has been post-translationally modified to include an acetylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad7 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
A smad7 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
smad7 isoform 1 ubiquitinated form
MOD:00688 "has_modification isopeptide crosslinked residues".
pro
MOD:00688
http://purl.org/obo/owl/MOD#MOD_00688
A smad7 isoform 1 that has been post-translationally modified to include a ubiquitinated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad9 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A smad9 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
smad9 isoform 3 phosphorylated form
pro
A smad9 isoform 3 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
thrombospondin 1 isoform 1 cleaved 1
GO:0004866 "has_function endopeptidase inhibitor activity".nGO:0005615 "located_in extracellular space [PMID:12498716, TaxID:10090; PMID:15662972, TaxID:9606]".
pro
A thrombospondin 1 isoform 1 cleaved form whose signal peptide has been removed, and is a mature protein.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0004866
http://purl.org/obo/owl/GO#GO_0004866
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
thrombospondin 1 isoform 1 cleaved 2
GO:0016525 "participates_in negative regulation of angiogenesis [PMID:17082774, TaxID:10090]".nGO:0042802 "has_function identical protein binding [PMID:17082774, TaxID:10090]".nGO:0060055 "participates_in angiogenesis involved in wound healing [PMID:17082774, TaxID:10090]".
pro
GO:0060055
http://purl.org/obo/owl/GO#GO_0060055
GO:0042802
http://purl.org/obo/owl/GO#GO_0042802
GO:0016525
http://purl.org/obo/owl/GO#GO_0016525
A thrombospondin 1 isoform 1 cleaved form that has been proteolytically processed by ADAMTS1 rendering a N-terminal domain product.
PMID:17082774
http://purl.org/obo/owl/PMID#PMID_17082774
thrombospondin 1 isoform 1 cleaved and glycosylated 1
GO:0005615 "located_in extracellular space [PMID:9657149, TaxID:10090]".nGO:0042802 "has_function identical protein binding [PMID:1459996, TaxID:10090; PMID:3305519, TaxID:9606]".nGO:0050431 "has_function transforming growth factor beta binding [PMID:7929414, TaxID:9913; PMID:9657149, TaxID:10090; PMID:15342643, TaxID:9606]".nMOD:00034 "has_modification L-cystine [PMID:12450399, TaxID:9606]".nMOD:00222 "has_modification 2'-alpha-mannosyl-L-tryptophan".nMOD:00812 "has_modification O-fucosyl-L-serine ".nMOD:00813 "has_modification O-fucosyl-L-threonine".
pro
MOD:00222
http://purl.org/obo/owl/MOD#MOD_00222
GO:0050431
http://purl.org/obo/owl/GO#GO_0050431
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
A thrombospondin 1 isoform 1 cleaved and glycosylated form whose signal peptide has been removed, and is a mature protein.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00813
http://purl.org/obo/owl/MOD#MOD_00813
MOD:00812
http://purl.org/obo/owl/MOD#MOD_00812
GO:0042802
http://purl.org/obo/owl/GO#GO_0042802
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
thrombospondin 1 isoform 1 cleaved and glycosylated 2
GO:0016525 "participates_in negative regulation of angiogenesis [PMID:17082774, TaxID:10090]".nGO:0060055 "participates_in angiogenesis involved in wound healing [PMID:17082774, TaxID:10090]".nMOD:00222 "has_modification 2'-alpha-mannosyl-L-tryptophan".nMOD:00812 "has_modification O-fucosyl-L-serine".nMOD:00813 "has_modification O-fucosyl-L-threonine".
pro
GO:0016525
http://purl.org/obo/owl/GO#GO_0016525
GO:0060055
http://purl.org/obo/owl/GO#GO_0060055
A thrombospondin 1 isoform 1 cleaved and glycosylated form that has been proteolytically processed by ADAMTS1 rendering a C-terminal domain product.
PMID:17082774
http://purl.org/obo/owl/PMID#PMID_17082774
MOD:00813
http://purl.org/obo/owl/MOD#MOD_00813
MOD:00222
http://purl.org/obo/owl/MOD#MOD_00222
MOD:00812
http://purl.org/obo/owl/MOD#MOD_00812
thrombospondin 2 isoform 1 cleaved 1
GO:0008201 "has_function heparin binding [PMID:1459996, TaxID:9606]".
pro
A thrombospondin 2 isoform 1 cleaved form whose signal peptide has been removed and is a mature protein.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0008201
http://purl.org/obo/owl/GO#GO_0008201
thrombospondin 2 isoform 1 cleaved 2
GO:0016525 "participates_in negative regulation of angiogenesis [PMID:17082774, TaxID:10090]".nGO:0060055 "participates_in angiogenesis involved in wound healing [PMID:17082774, TaxID:10090]".
pro
GO:0016525
http://purl.org/obo/owl/GO#GO_0016525
A thrombospondin 2 isoform 1 cleaved form that has been proteolytically processed by ADAMTS1 rendering a N-terminal domain product.
PMID:17082774
http://purl.org/obo/owl/PMID#PMID_17082774
GO:0060055
http://purl.org/obo/owl/GO#GO_0060055
thrombospondin 2 isoform 1 cleaved 3
GO:0016525 "participates_in negative regulation of angiogenesis [PMID:17082774, TaxID:10090]".nGO:0060055 "participates_in angiogenesis involved in wound healing [PMID:17082774, TaxID:10090]".
pro
GO:0060055
http://purl.org/obo/owl/GO#GO_0060055
GO:0016525
http://purl.org/obo/owl/GO#GO_0016525
A thrombospondin 2 isoform 1 cleaved and glycosylated form that has been proteolytically processed by ADAMTS1 rendering a C-terminal domain product.
PMID:17082774
http://purl.org/obo/owl/PMID#PMID_17082774
thrombospondin 3 isoform 1 cleaved 1
GO:0005509 "has_function calcium ion binding [PMID:8288588, TaxID:10090]".nGO:0005615 "located_in extracellular space [PMID:8288588, TaxID:10090]".nGO:0007160 "participates_in cell-matrix adhesion [PMID:8468055, TaxID:10090]".nGO:0008201 "has_function heparin binding [PMID:8288588, TaxID:10090]".nGO:0042802 "has_function identical protein binding [PMID:7759526, TaxID:10090]".
pro
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0005509
http://purl.org/obo/owl/GO#GO_0005509
A thrombospondin 3 isoform 1 cleaved form whose signal peptide has been removed, and is a mature protein.
PMID:8654563
http://purl.org/obo/owl/PMID#PMID_8654563
GO:0008201
http://purl.org/obo/owl/GO#GO_0008201
GO:0007160
http://purl.org/obo/owl/GO#GO_0007160
GO:0042802
http://purl.org/obo/owl/GO#GO_0042802
thrombospondin 4 isoform 1 cleaved 1
GO:0005509 "has_function calcium ion binding [PMID:7852353, TaxID:9606]".nGO:0005578 "located_in proteinaceous extracellular matrix [PMID:7490284, TaxID:9606]".nGO:0006930 "participates_in substrate-bound cell migration, cell extension [PMID:7490284, TaxID:9606]".nGO:0008201 "has_function heparin binding [PMID:7852353, TaxID:9606]".nMOD:00034 "has_modification L-cystine [PMID:7759526]".
pro
A thrombospondin 4 isoform 1 cleaved form whose signal peptide has been removed, and is a mature protein.
PMID:8654563
http://purl.org/obo/owl/PMID#PMID_8654563
GO:0005509
http://purl.org/obo/owl/GO#GO_0005509
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
GO:0008201
http://purl.org/obo/owl/GO#GO_0008201
GO:0006930
http://purl.org/obo/owl/GO#GO_0006930
GO:0005578
http://purl.org/obo/owl/GO#GO_0005578
transcription factor Sp1 isoform 1 acetylated 1
GO:0003677 "has_function DNA binding [PMID:15647279, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:15647279, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:15647279, TaxID:9606]".
pro
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0003677
http://purl.org/obo/owl/GO#GO_0003677
A transcription factor Sp1 isoform 1 acetylated form that has been acetylated by PCAF.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
transcription factor Sp1 isoform 1 cleaved 1
GO:0003700 "has_function transcription factor activity [PMID:16407261, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:16407261, TaxID:9606]".
pro
A transcription factor Sp1 isoform 1 cleaved form in which the N-terminal inhibitory domain has been released.
PMID:16407261
http://purl.org/obo/owl/PMID#PMID_16407261
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
transcription factor Sp1 isoform 1 glycosylated 1
GO:0003677 "has_function DNA binding [PMID:11371615, TaxID:9606]".nGO:0003700 "has_function (increased) transcription factor activity [PMID:11371615, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:11371615, TaxID:9606]".nMOD:00396 "has_modification O-glycosylated residue".
pro
GO:0003677
http://purl.org/obo/owl/GO#GO_0003677
A transcription factor Sp1 isoform 1 glycosylated form that has terminal O-linked N-acetylglucosamines.
PMID:11371615
http://purl.org/obo/owl/PMID#PMID_11371615
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
MOD:00396
http://purl.org/obo/owl/MOD#MOD_00396
transcription factor Sp1 isoform 1 phosphorylated 1
GO:0003677 "has_function DNA binding [PMID:2170018, TaxID:9606]".nGO:0003702 "has_function RNA polymerase II transcription factor activity [PMID:2170018, TaxID:9606; PMID:9525578, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:2170018, TaxID:9606; PMID:9525578, TaxID:9606]".
pro
GO:0003677
http://purl.org/obo/owl/GO#GO_0003677
GO:0003702
http://purl.org/obo/owl/GO#GO_0003702
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
A transcription factor Sp1 isoform 1 phosphorylated that has been phosphorylated at the N-terminal activation domains by a DNA-dependent protein kinase.
PMID:2170018
http://purl.org/obo/owl/PMID#PMID_2170018
transcription factor Sp1 isoform 1 phosphorylated 2
GO:0003700 "has_function (decreased) transcription factor activity [PMID:9153193, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:9153193, TaxID:9606]".
pro
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
A transcription factor Sp1 isoform 1 phosphorylated form that has been phosphorylated at a Thr residue in the C-terminal domain by casein kinase II.
PMID:9153193
http://purl.org/obo/owl/PMID#PMID_9153193
transcription factor Sp1 isoform 1 phosphorylated 3
GO:0005634 "located_in nucleus [PMID:17049555; TaxID:9606; PMID:18239466, TaxID:9606]".nGO:0003700 "has_function (increased) transcription factor activity [PMID:17049555; TaxID:9606; PMID:18239466, TaxID:9606]".
pro
A transcription factor Sp1 isoform 1 phosphorylated form that has been phosphorylated at the Ser residue within the CyclinA/cdk2 phosphorylation site (QPSP sequence). Phosphorylation at this site induces removal of the inhibitory domain by proteolytic processing and activation of transcription activity.
PMID:18239466
http://purl.org/obo/owl/PMID#PMID_18239466
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
transcription factor Sp1 isoform 1 phosphorylated 4
GO:0006975 "participates_in DNA damage induced protein phosphorylation [PMID:18171990, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:18171990, TaxID:9606]".
pro
A transcription factor Sp1 isoform 1 phosphorylated form that has been phosphorylated at the first serine/threonine strech by ATM kinase in response to DNA damage.
PMID:18171990
http://purl.org/obo/owl/PMID#PMID_18171990
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0006975
http://purl.org/obo/owl/GO#GO_0006975
transcription factor Sp1 isoform 1 sumoylated 1
GO:0003700 "has_function (decreased) transcription factor activity [PMID:16407261, TaxID:9606]".nMOD:01149 "has_modification sumoylated lysine".
pro
A transcription factor Sp1 isoform 1 sumoylated form that has a SUMO protein covalently linked to a lysine residue at the consensus motif VKIE within the N-terminal inhibitory domain.
PMID:16407261
http://purl.org/obo/owl/PMID#PMID_16407261
MOD:01149
http://purl.org/obo/owl/MOD#MOD_01149
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
tumor necrosis factor alpha isoform 1 cleaved 1
GO:0005164 "has_function tumor necrosis factor receptor binding".nGO:0005625 "located_in soluble fraction".nGO:0006355 "participates_in regulation of transcription, DNA-dependent".nGO:0006915 "participates_in apoptosis [PMID:3856324, TaxID:9606]".nGO:0006916 "participates_in anti-apoptosis".nGO:0007159 "participates_in leukocyte adhesion".nGO:0007165 "participates_in signal transduction".nGO:0009615 "participates_in response to virus".nGO:0042802 "has_function identical protein binding".
pro
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
GO:0009615
http://purl.org/obo/owl/GO#GO_0009615
A tumor necrosis factor alpha isoform 1 cleaved form that has been processed by TNF alpha converting enzyme ADAM17.
PMID:12135369
http://purl.org/obo/owl/PMID#PMID_12135369
GO:0006355
http://purl.org/obo/owl/GO#GO_0006355
GO:0006915
http://purl.org/obo/owl/GO#GO_0006915
GO:0006916
http://purl.org/obo/owl/GO#GO_0006916
GO:0007159
http://purl.org/obo/owl/GO#GO_0007159
GO:0005164
http://purl.org/obo/owl/GO#GO_0005164
GO:0005625
http://purl.org/obo/owl/GO#GO_0005625
GO:0042802
http://purl.org/obo/owl/GO#GO_0042802
tumor necrosis factor alpha isoform 1 cleaved 2
GO:0005125 "NOT has_function cytokine activity [PMID:2777790, TaxID:10090]".nGO:0005625 "located_in soluble fraction [PMID:2777790, TaxID:10090]".
pro
A tumor necrosis factor alpha isoform 1 cleaved form that is an incompletely processed soluble form.
PMID:2777790
http://purl.org/obo/owl/PMID#PMID_2777790
GO:0005625
http://purl.org/obo/owl/GO#GO_0005625
tumor necrosis factor alpha isoform 1 myristoylated
GO:0016021 "located_in integral to membrane [PMID:1402651, TaxID:9606]".nMOD:00087 "has_modification N6-myristoylated L-lysine".
pro
MOD:00087
http://purl.org/obo/owl/MOD#MOD_00087
A tumor necrosis factor alpha isoform 1 myristoylated form that has been modified at the N-epsilon-NH2 groups of the most N-terminal lysines within the cytoplasmic domain.
PMID:1402651
http://purl.org/obo/owl/PMID#PMID_1402651
GO:0016021
http://purl.org/obo/owl/GO#GO_0016021
tumor necrosis factor alpha isoform 1 phosphorylated 1
GO:0016021 "located_in integral to membrane [PMID:10205166, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine [PMID:8597870, TaxID:9606; PMID:10205166, TaxID:9606]".
pro
GO:0016021
http://purl.org/obo/owl/GO#GO_0016021
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
A tumor necrosis factor alpha isoform 1 phosphorylated form that has been phosphorylated at the N-terminal serine within the ST[EK]S motif in the cytoplasmic domain.
PMID:10205166
http://purl.org/obo/owl/PMID#PMID_10205166
BMP2 isoform 1 cleaved 1
GO:0001501 "participates_in skeletal development [PMID:15565649, TaxID:10090; PMID:16109715, TaxID:10090; PMID:2315314, TaxID:9606]".nGO:0005102 "has_function receptor binding [PMID:2315314, TaxID:9606]".nGO:0005615 "located_in extracellular space [PMID:2315314, TaxID:9606; PMID:15110716, TaxID:10090]".nGO:0007267 "participates_in cell-cell signaling [PMID:2315314, TaxID:9606]".nGO:0030509 "participates_in BMP signaling pathway [PMID:14623234, TaxID:10090]".nGO:0042803 "has_function protein homodimerization activity [PMID:10074410, TaxID:9606]".
pro
A BMP2 isoform 1 cleaved form that has been processed to a mature protein by removal of the signal peptide and subsequent release of the propeptide.
PMID:10074410
http://purl.org/obo/owl/PMID#PMID_10074410
GO:0001501
http://purl.org/obo/owl/GO#GO_0001501
GO:0005102
http://purl.org/obo/owl/GO#GO_0005102
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0007267
http://purl.org/obo/owl/GO#GO_0007267
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
BMP4 isoform 1 cleaved 1
GO:0001649 "participates_in osteoblast differentiation [PMID:15381701, TaxID:10090; PMID:14749725, TaxID:9606]".nGO:0001657 "participates_in ureteric bud development [PMID:12631064, TaxID:10090; PMID:12141440, TaxID:9606]".nGO:0001934 "participates_in positive regulation of protein amino acid phosphorylation [PMID:14749725, TaxID:9606]".nGO:0004871 "has_function signal transducer activity [PMID:9804553, TaxID:9606]".nGO:0005102 "has_function receptor binding [PMID:11401399, TaxID:9606; PMID:14660436, TaxID:9606]".nGO:0005615 "located_in extracellular space [PMID:12805376, TaxID:9606]".nGO:0007498 "participates_in mesoderm development [PMID:9804553, TaxID:9606]".nGO:0030509 "participates_in BMP signaling pathway [PMID:12805376, TaxID:9606; PMID:14623234, TaxID:10090 ]".nGO:0042803 "has_function protein homodimerization activity [PMID:12805376, TaxID:9606]".
pro
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0007498
http://purl.org/obo/owl/GO#GO_0007498
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0005102
http://purl.org/obo/owl/GO#GO_0005102
GO:0001934
http://purl.org/obo/owl/GO#GO_0001934
GO:0004871
http://purl.org/obo/owl/GO#GO_0004871
A BMP4 isoform 1 cleaved form that has been processed to a mature protein by removal of the signal peptide and subsequent release of the propeptide.
PMID:12805376
http://purl.org/obo/owl/PMID#PMID_12805376
GO:0001649
http://purl.org/obo/owl/GO#GO_0001649
GO:0001657
http://purl.org/obo/owl/GO#GO_0001657
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
BMP5 isoform 1 cleaved 1
GO:0030509 "participates_in BMP signaling pathway [PMID:11401399, TaxID:9606; PMID: 14660436, TaxID:9606]".
pro
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
A BMP5 isoform 1 cleaved form that has been processed to a mature protein by removal of the signal peptide and subsequent release of the propeptide.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BMP6 isoform 1 cleaved 1
GO:0001501 "participates_in skeletal development [PMID:12702725, TaxID:9606; PMID:8089189, TaxID:10090 ]".nGO:0001934 "participates_in positive regulation of protein amino acid phosphorylation [PMID:16527843 , TaxID:9606]".nGO:0005615 "located_in extracellular space [PMID:8089189, TaxID:10090]".nGO:0030509 "participates_in BMP signaling pathway [PMID:15969083, TaxID:9606; PMID:14623234, TaxID:10090]".nGO:0032349 "participates_in positive regulation of aldosterone biosynthetic process [PMID:16527843 , TaxID:9606]".nGO:0042803 "has_function protein homodimerization activity [PMID:15969083, TaxID:9606]".nMOD:00034 "has_modification L-cystine [PMID:15969083, TaxID:9606]".
pro
GO:0032349
http://purl.org/obo/owl/GO#GO_0032349
GO:0001501
http://purl.org/obo/owl/GO#GO_0001501
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
GO:0001934
http://purl.org/obo/owl/GO#GO_0001934
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
A BMP6 isoform 1 cleaved form that has been processed to a mature protein by removal of the signal peptide and subsequent release of the propeptide.
PMID:15969083
http://purl.org/obo/owl/PMID#PMID_15969083
BMP7 isoform 1 cleaved 1
GO:0005515 "has_function protein binding [PMID:12741987, TaxID:10090]".nGO:0005615 "located_in extracellular space [PMID:12741987, TaxID:10090]".nGO:0007411 "participates_in axon guidance when bound to PRO:000000641 [PMID:12741987, TaxID:10090]".
pro
A BMP7 isoform 1 cleaved and glycosylated form that has been processed to a mature protein by removal of the signal peptide and subsequent release of the propeptide from the latent complex.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007411
http://purl.org/obo/owl/GO#GO_0007411
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
BMP7 isoform 1 cleaved and glycosylated 1
GO:0005102 "has_function receptor binding [PMID:9872992, TaxID:9606]".nGO:0005615 "located_in extracellular space [PMID:15047707, TaxID:9606; PMID:15929982, TaxID:9606]".nGO:0030509 "participates_in BMP signaling pathway [PMID:14623234, TaxID:10090]".nGO:0042803 "has_function protein homodimerization activity [PMID:8570652, TaxID:9606; PMID:15929982, TaxID:9606]".nMOD:00034 "has_modification (interchain) L-cystine".
pro
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0005102
http://purl.org/obo/owl/GO#GO_0005102
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
A BMP7 isoform 1 cleaved and glycosylated form that has been processed to a mature protein by removal of the signal peptide and subsequent release of the propeptide from the latent complex, and is N-glycosylated at the N{P}[ST]{P} motif. This form is a disulfide linked homodimer.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:15929982
http://purl.org/obo/owl/PMID#PMID_15929982
BMP7 isoform 1 cleaved and glycosylated 2
GO:0005102 "NOT has_function receptor binding [PMID:15929982, TaxID:9606]".nGO:0005615 "located_in extracellular space [PMID:15929982, TaxID:9606]".
pro
A BMP7 isoform 1 cleaved and glycosylated form that has been processed to a latent complex by removal of the signal peptide and of the propeptide which in turns, remains bound to the mature protein. This form is N-glycosylated at the most C-terminal N{P}[ST]{P} motif and is a homodimer.
PMID:15929982
http://purl.org/obo/owl/PMID#PMID_15929982
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GTP-binding protein RhoA isoform 1 prenylated
GO:0004871 "has_function signal transducer activity [PMID:12761501, TaxID:9606]".nGO:0005887 "located_in integral to plasma membrane [PMID:16773203, TaxID:9606; PMID:1903193; TaxID:9913]".nGO:0030036 "participates_in actin cytoskeleton organization and biogenesis".nGO:0042346 "participates_in positive regulation of NF-kappaB import into nucleus [PMID:12761501, TaxID:9606]".nGO:0043123 "participates_in positive regulation of I-kappaB kinase/NF-kappaB cascade [PMID:12761501, TaxID:9606]".nMOD:00113 "has_modification S-geranylgeranyl-L-cysteine".
pro
GO:0043123
http://purl.org/obo/owl/GO#GO_0043123
MOD:00113
http://purl.org/obo/owl/MOD#MOD_00113
GO:0030036
http://purl.org/obo/owl/GO#GO_0030036
GO:0042346
http://purl.org/obo/owl/GO#GO_0042346
GO:0004871
http://purl.org/obo/owl/GO#GO_0004871
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
A GTP-binding protein RhoA isoform 1 prenylated form where a geranylgeranyl moiety has been added to the Cys residue within the C-terminal Cxxx motif. Example: UniProtKB:P61586-1, has_modification MOD:00113 S-geranylgeranyl-L-cysteine, Cys-190.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 1 isoform 1 cleaved 1
GO:0005160 "has_function transforming growth factor beta receptor binding [PMID:14764882, TaxID:10090]".nGO:0005578 "located_in proteinaceous extracellular matrix [PMID:9008713, TaxID:10090; PMID:8294500, TaxID:9606; PMID:11907708, TaxID:10116; PMID:3185545, TaxID:9534]".nGO:0006916 "participates_in anti-apoptosis [PMID:9918798, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:8471846, TaxID:9606; PMID:3185545, TaxID:9534]".nGO:0030879 "participates_in mammary gland development [PMID:1821856, TaxID:10090]".nGO:0042803 "has_function protein homodimerization activity [PMID:8471846, TaxID:9606; PMID:3162913, TaxID:9606; PMID:3185545, TaxID:9534]".nMOD:00034 "has_modification L-cystine".nSO:0000419 "has_agent mature_protein_region".
pro
GO:0005160
http://purl.org/obo/owl/GO#GO_0005160
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
GO:0030879
http://purl.org/obo/owl/GO#GO_0030879
SO:0000419
http://purl.org/obo/owl/SO#SO_0000419
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
GO:0005578
http://purl.org/obo/owl/GO#GO_0005578
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0006916
http://purl.org/obo/owl/GO#GO_0006916
A TGF-beta 1 isoform 1 cleaved form that has been processed by proteolytic cleavage and released from the latent complex. This form is the active mature peptide.
PMID:3162913
http://purl.org/obo/owl/PMID#PMID_3162913
TGF-beta 1 isoform 1 cleaved and glycosylated 1
GO:0043234 "part_of protein complex [PMID:3162913, TaxID:9606; PMID:17015622, TaxID:9606]".nGO:####### "part_of TGF-beta latent complex [PMID:3162913, TaxID:9606; PMID:17015622, TaxID:9606]".nMOD:00034 "has_modification - L-cystine".
pro
A TGF-beta 1 isoform 1 cleaved and glycosylated form that has been processed by proteolytic cleavage to remove the signal peptide and the C-terminal mature peptide. This chain is referred as to the latent associated peptide (LAP).
PMID:3162913
http://purl.org/obo/owl/PMID#PMID_3162913
LAP
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
latent associated peptide
TGF-beta 1 isoform 1 cleaved and glycosylated 2
GO:0005160 "NOT has_function transforming growth factor beta receptor binding [PMID:3162913, TaxID:9606; PMID:2677679, TaxID:9606; PMID:1448117, TaxID:9534]".nGO:0005578 "located_in proteinaceous extracellular matrix [PMID:9008713, TaxID:10090; PMID:8294500, TaxID:9606; PMID:17015622, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:3162913, TaxID:9606; PMID:2677679, TaxID:9534; PMID:1448117, TaxID:9534]".nGO:0030879 "participates_in mammary gland development [PMID:1821856, TaxID:10090]".nGO:0042803 "has_function protein homodimerization activity [PMID:3162913, TaxID:9606]".nGO:0043234 "part_of protein complex [PMID:3162913, TaxID:9606; PMID:2677679, TaxID:9534; PMID:1448117, TaxID:9534]".nGO:####### "part_of TGF-beta latent complex [PMID:3162913, TaxID:9606; PMID:2677679, TaxID:9534; PMID:1448117, TaxID:9534]".nMOD:00034 "has_modification L-cystine".
pro
A TGF-beta 1 isoform 1 cleaved and glycosylated form that has cleavage of the signal peptide and also has cleavage at the dibasic cleavage site rendering the latent associated peptide (LAP) and the mature protein non-covalently bound.
PMID:3185545
http://purl.org/obo/owl/PMID#PMID_3185545
PMID:3162913
http://purl.org/obo/owl/PMID#PMID_3162913
TGFb latent complex
TGF beta latent complex
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0030879
http://purl.org/obo/owl/GO#GO_0030879
GO:0005578
http://purl.org/obo/owl/GO#GO_0005578
TGF-beta 1 sequence variant 2 cleaved 1
GO:0044424 "located_in intracellular part [PMID:12493741, TaxID:9606]".nSO:1000121 "has_agent mutation_causing_polypeptide_localization_change [PMID:12493741, TaxID:9606]".
pro
GO:0044424
http://purl.org/obo/owl/GO#GO_0044424
SO:1000121
http://purl.org/obo/owl/SO#SO_1000121
A TGF-beta 1 sequence variant 2 cleaved form that has been processed by proteolytic cleavage of the signal peptide and propeptide.
PMID:12493741
http://purl.org/obo/owl/PMID#PMID_12493741
TGF-beta 1 sequence variant 2 cleaved 2
GO:0005615 "located_in extracellular space [PMID:12493741, TaxID:9606]".nSO:1000093 "has_agent mutation_causing_amino_acid_substitution".
pro
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A TGF-beta 1 sequence variant 2 cleaved form that has been processed by proteolytic cleavage to remove the signal peptide and the C-terminal mature peptide. This chain is referred as to the latent associated peptide (LAP).
PMID:12493741
http://purl.org/obo/owl/PMID#PMID_12493741
TGF-beta 1 sequence variant 3 cleaved 1
GO:0005160 "has_function transforming growth factor beta receptor binding".nGO:0005615 "located_in extracellular space [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway".nGO:0008083 "has_function (increased) growth factor activity [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".nGO:0042803 "has_function protein homodimerization activity".
pro
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0008083
http://purl.org/obo/owl/GO#GO_0008083
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
A TGF-beta 1 sequence variant 3 cleaved form that has been processed by proteolytic cleavage of the signal peptide and propeptide.
PMID:11278244
http://purl.org/obo/owl/PMID#PMID_11278244
GO:0005160
http://purl.org/obo/owl/GO#GO_0005160
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
TGF-beta 1 sequence variant 3 cleaved 2
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nSO:1000124 "has_agent mutation_causing_partial_loss_of_function_of_polypeptide [PMID:11278244, TaxID:9606]".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A TGF-beta 1 sequence variant 3 cleaved form that has been processed by proteolytic cleavage to remove the signal peptide and the C-terminal mature peptide. This chain is referred as to the latent associated peptide (LAP). This form has decrease afinity for the mature peptide (PRO:000000621).
PMID:11278244
http://purl.org/obo/owl/PMID#PMID_11278244
SO:1000124
http://purl.org/obo/owl/SO#SO_1000124
TGF-beta 1 sequence variant 5 cleaved 1
GO:0005615 "located_in extracellular space [PMID:12493741, TaxID:9606]".nGO:0006916 "participates_in anti-apoptosis [PMID:12493741, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:12493741,TaxID:9606]".nGO:0008083 "has_function (increased) growth factor activity [PMID:12493741, TaxID:9606]".
pro
A TGF-beta 1 sequence variant 5 cleaved form that has been processed by proteolytic cleavage of the signal peptide and propeptide.
PMID:12493741
http://purl.org/obo/owl/PMID#PMID_12493741
GO:0006916
http://purl.org/obo/owl/GO#GO_0006916
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0008083
http://purl.org/obo/owl/GO#GO_0008083
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
TGF-beta 1 sequence variant 5 cleaved 2
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nSO:1000116 "has_agent mutation_causing_conformational_change [PMID:11278244, TaxID:9606]".nSO:1000124 "has_agent mutation_causing_partial_loss_of_function_of_polypeptide [PMID:11278244, TaxID:9606]".
pro
SO:1000124
http://purl.org/obo/owl/SO#SO_1000124
SO:1000116
http://purl.org/obo/owl/SO#SO_1000116
A TGF-beta 1 sequence variant 5 cleaved form that has been processed by proteolytic cleavage to remove the signal peptide and the C-terminal mature peptide. This chain is referred as to the latent associated peptide (LAP).
PMID:12493741
http://purl.org/obo/owl/PMID#PMID_12493741
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
TGF-beta 1 sequence variant 6 cleaved 1
GO:0005615 "located_in extracellular space [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".nGO:0008083 "has_function (increased) growth factor activity [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463, TaxID:9606]".
pro
A TGF-beta 1 sequence variant 6 cleaved form that has been processed by proteolytic cleavage of the signal peptide and propeptide.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0008083
http://purl.org/obo/owl/GO#GO_0008083
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
TGF-beta 1 sequence variant 6 cleaved 2
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nSO:1000124 "has_agent mutation_causing_partial_loss_of_function_of_polypeptide [PMID:11278244, TaxID:9606]".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
SO:1000124
http://purl.org/obo/owl/SO#SO_1000124
A TGF-beta 1 sequence variant 6 cleaved form that has been processed by proteolytic cleavage to remove the signal peptide and the C-terminal mature peptide. This chain is referred as to the latent associated peptide (LAP).
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 1 sequence variant 4 cleaved 1
GO:0005160 "has_function transforming growth factor beta receptor binding [PMID:11278244, TaxID:9606]".nGO:0005615 "located_in extracellular space [PMID:11278244, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:11278244, TaxID:9606]".nGO:0008083 "has_function (increased) growth factor activity [PMID:12843182, TaxID:9606; PMID:12493741, TaxID:9606; PMID:11062463,TaxID:9606]".nGO:0042803 "has_function protein homodimerization activity [PMID:11278244, TaxID:9606]".
pro
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0005160
http://purl.org/obo/owl/GO#GO_0005160
A TGF-beta 1 sequence variant 4 cleaved form that has been processed by proteolytic cleavage of the signal peptide and propeptide.
PMID:11278244
http://purl.org/obo/owl/PMID#PMID_11278244
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
GO:0008083
http://purl.org/obo/owl/GO#GO_0008083
TGF-beta 1 sequence variant 4 cleaved 2
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nSO:1000116 "has_agent mutation_causing_conformational_change [PMID:11278244, TaxID:9606]".nSO:1000124 "has_agent mutation_causing_partial_loss_of_function_of_polypeptide [PMID:11278244, TaxID:9606]".
pro
A TGF-beta 1 sequence variant 4 cleaved form that has been processed by proteolytic cleavage to remove the signal peptide and the C-terminal mature peptide. This chain is referred as to the latent associated peptide (LAP). This form has decrease afinity for the mature peptide ().
PMID:11278244
http://purl.org/obo/owl/PMID#PMID_11278244
SO:1000124
http://purl.org/obo/owl/SO#SO_1000124
SO:1000116
http://purl.org/obo/owl/SO#SO_1000116
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
TGF-beta 2 isoform 1 cleaved 1
GO:0001540 "has_function beta-amyloid binding [PMID:16227582, TaxID:9606]".nGO:0005160 "has_function transforming growth factor beta receptor binding [PMID:16227582, TaxID:9606]".nGO:0005615 "located_in extracellular space [PMID:3162913, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:3162913, TaxID:9606]".nGO:0008285 "participates_in negative regulation of cell proliferation [PMID:15944186, TaxID:9606]".nGO:0042803 "has_function protein homodimerization activity [PMID:3476488, TaxID:9606; PMID:2119582, TaxID:9606]".nMOD:00034 "has_modification L-cystine".
pro
GO:0005160
http://purl.org/obo/owl/GO#GO_0005160
GO:0001540
http://purl.org/obo/owl/GO#GO_0001540
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
A TGF-beta 2 isoform 1 cleaved form that has been processed by proteolytic cleavage and released from the latent complex. This form is the active mature peptide.
PMID:3476488
http://purl.org/obo/owl/PMID#PMID_3476488
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
GO:0008285
http://purl.org/obo/owl/GO#GO_0008285
TGF-beta 2 isoform 1 cleaved 2
GO:0005515 "has_function protein binding [Q07475, PMID:14985127, TaxID:10090]".nGO:0043234 "part_of protein complex [PMID:3162913, TaxID:9606]".nGO:######## "part_of TGF beta latent complex [PMID:3162913, TaxID:9606]".nMOD:00034 "has_modification L-cystine".
pro
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
A TGF-beta 2 isoform 1 cleaved and glycosylated form that has been processed by proteolytic cleavage to remove the signal peptide and the C-terminal mature peptide. This chain is referred as to the latent associated peptide (LAP).
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 2 isoform 1 cleaved 3
GO:0005615 "located_in extracellular space [PMID:3162913, TaxID:9606]".nGO:0042803 "has_function protein homodimerization activity [PMID:3476488, TaxID:9606]".nGO:####### "part_of TGF beta latent complex [PMID:3162913, TaxID:9606]".nMOD:00034 "has_modification L-cystine".
pro
A TGF-beta 2 isoform 1 that has cleavage of the signal peptide and also has cleavage at the dibasic cleavage site rendering the latent associated peptide (LAP) and the mature protein non-covalently bound.
PMID:10224129
http://purl.org/obo/owl/PMID#PMID_10224129
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
TGF-beta 2 isoform 2 cleaved 1
GO:0005615 "located_in extracellular space [PMID:1777240, TaxID:10090]".
pro
A TGF-beta 2 isoform 2 cleaved form that has been processed by proteolytic cleavage and released from the latent complex. This form is the active mature peptide.
PMID:1777240
http://purl.org/obo/owl/PMID#PMID_1777240
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
TGF-beta 2 isoform 2 cleaved 2
GO:0005615 "located_in extracellular space [PMID:1777240, TaxID:10090]".
pro
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
A TGF-beta 2 isoform 2 that has cleavage of the signal peptide and also has cleavage at the dibasic cleavage site rendering the latent associated peptide (LAP) and the mature protein non-covalently bound.
PMID:1777240
http://purl.org/obo/owl/PMID#PMID_1777240
TGF-beta 3 isoform 1 cleaved 1
GO:0005160 "has_function transforming growth factor beta receptor binding".nGO:0005615 "located_in extracellular space".nGO:0007165 "participates_in signal transduction".nGO:0007267 "participates_in cell-cell signaling".nGO:0009887 "participates_in organ morphogenesis".nGO:0030879 "participates_in mammary gland development [PMID:1821856, TaxID:10090]".nGO:0042803 "has_function protein homodimerization activity".nMOD:00034 "has_modification L-cystine".
pro
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0005160
http://purl.org/obo/owl/GO#GO_0005160
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
GO:0030879
http://purl.org/obo/owl/GO#GO_0030879
GO:0009887
http://purl.org/obo/owl/GO#GO_0009887
GO:0007267
http://purl.org/obo/owl/GO#GO_0007267
A TGF-beta 3 isoform 1 cleaved form that has been processed by proteolytic cleavage and released from the latent complex. This form is the active mature peptide.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
TGF-beta 3 isoform 1 cleaved 2
GO:0042803 "has_function protein homodimerization activity [PMID:11821050, TaxID:9606]".nMOD:00034 "has_modification L-cystine".
pro
A TGF-beta 3 isoform 1 cleaved and glycosylated form that has been processed by proteolytic cleavage to remove the signal peptide and the C-terminal mature peptide. This chain is referred as to the latent associated peptide (LAP).
PMID:11821050
http://purl.org/obo/owl/PMID#PMID_11821050
TGFB3 latent associated peptide
TGFB3 lap
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
TGF-beta 3 isoform 1 cleaved 3
GO:0005615 "located_in extracellular space".nGO:0030879 "participates_in mammary gland development [PMID:1821856, TaxID:10090]".nMOD:00034 "has_modification L-cystine".
pro
A TGF-beta 3 isoform 1 that has cleavage of the signal peptide and also has cleavage at the dibasic cleavage site rendering the latent associated peptide (LAP) and the mature protein non-covalently bound.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0030879
http://purl.org/obo/owl/GO#GO_0030879
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
activin/inhibin beta A chain isoform 1 cleaved 1
GO:0005102 "contributes_to_function receptor binding [PMID:1646080, TaxID:10090; PMID:7577669, TaxID:10090; PMID:7890768, TaxID:9606]".nGO:0005576 "located_in extracellular region [PMID:2575216, TaxID:9606; PMID:12213882, TaxID:9606]".nGO:0007166 "participates_in cell surface receptor linked signal transduction [PMID:12456957, TaxID:9606]".nGO:0007267 "participates_in cell-cell signaling [PMID:12456957, TaxID:9606]".nGO:0009605 "participates_in response to external stimulus [PMID:10320815, TaxID:9606]".nGO:0030154 "participates_in cell differentiation [PMID:12456957, TaxID:9606]".nGO:0032925 "paticipates_in regulation of activin receptor signaling pathway [PMID:9884026, TaxID:9606]".nGO:0043234 "part_of protein complex with PRO:000000637 [PMID:12960042, TaxID:9606]".nGO:0043509 "part_of activin A complex [PMID:7890768, TaxID:9606]".nGO:0043512 "part_of inhibin A complex [PMID:7890768, TaxID:9606]".nGO:0046983 "has_function protein dimerization activity [PMID:2133547, TaxID:10090; PMID:1537316, TaxID:9606]".nMOD:00034 "has_modification L-cystine".
pro
GO:0007166
http://purl.org/obo/owl/GO#GO_0007166
An activin/inhibin beta A chain isoform 1 cleaved form that has been processed to the mature peptide by removal of the signal peptide and subsequent release of the propeptide. It is a subunit of inhibin A and activin A complexes. Inhibin A complex is a dimer of INHA and INHBA, whereas activin A complex is a homodimer of INHBA.
PMID:15948132
http://purl.org/obo/owl/PMID#PMID_15948132
MOD:00034
http://purl.org/obo/owl/MOD#MOD_00034
GO:0009605
http://purl.org/obo/owl/GO#GO_0009605
GO:0007267
http://purl.org/obo/owl/GO#GO_0007267
GO:0046983
http://purl.org/obo/owl/GO#GO_0046983
GO:0030154
http://purl.org/obo/owl/GO#GO_0030154
GO:0005576
http://purl.org/obo/owl/GO#GO_0005576
activin/inhibin beta B chain isoform 1 cleaved 1
GO:0005102 "contributes_to_function receptor binding [PMID:3754442, TaxID:9606]".nGO:0005515 "has_function protein binding [PMID:2575216, TaxID:9606]".nGO:0005576 "located_in extracellular region [PMID:3122219, TaxID:9606]".nGO:0030154 "participates_in cell differentiation [PMID:10320815, TaxID:9606]".nGO:0046880 "participates_in regulation of follicle-stimulating hormone secretion [PMID:3122219, TaxID:9606]".nGO:0046983 "has_function protein dimerization activity [PMID:2575216, TaxID:9606]".
pro
An activin/inhibin beta B chain isoform 1 cleaved form that has been processed to the mature peptide by removal of the signal peptide and subsequent release of the propeptide. It is a subunit of activin B, inhibin B and activin AB complexes. Activin B is a homodimer of INHBB. Inhibin B is a dimer of INHA and INHBB. Activin AB is a dimer of INHBA and INHBB.
PMID:3754442
http://purl.org/obo/owl/PMID#PMID_3754442
GO:0046880
http://purl.org/obo/owl/GO#GO_0046880
GO:0046983
http://purl.org/obo/owl/GO#GO_0046983
GO:0030154
http://purl.org/obo/owl/GO#GO_0030154
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0005576
http://purl.org/obo/owl/GO#GO_0005576
activin/inhibin beta E chain isoform 1 cleaved 1
GO:0005576 "located_in extracellular region [PMID:15863943, TaxID:10090]".nGO:0043065 "participates_in positive regulation of apoptosis [PMID:15863943, TaxID:10090]".nGO:0046983 "has_function protein dimerization activity [PMID:15863943, TaxID:10090]".nGO:0048180 "part_of activin complex [PMID:15863943, TaxID:10090]".
pro
GO:0046983
http://purl.org/obo/owl/GO#GO_0046983
GO:0043065
http://purl.org/obo/owl/GO#GO_0043065
GO:0005576
http://purl.org/obo/owl/GO#GO_0005576
An activin/inhibin beta E chain isoform 1 cleaved form that has been processed to the mature peptide by removal of the signal peptide and subsequent release of the propeptide.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:1286533
http://purl.org/obo/owl/PMID#PMID_1286533
growth/differentiation factor 5 cleaved 1
GO:0005102 "has_function receptor binding [PMID:15890363, TaxID:9606; PMID:15752764, TaxID:9606]".nGO:0005515 "has_function protein binding [PRO:000000164, PMID:9288098, TaxID:9606]".nGO:0005615 "located_in extracellular space [PMID:16532400, TaxID:9606]".nGO:0008083 "has_function growth factor activity [PMID:8589725, TaxID:9606]".nGO:0042803 "has_function protein homodimerization activity [PMID:8962721, TaxID:9606; PMID:15752764, TaxID:9606; PMID:15752764, TaxID:9606]".
pro
GO:0042803
http://purl.org/obo/owl/GO#GO_0042803
GO:0008083
http://purl.org/obo/owl/GO#GO_0008083
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0005102
http://purl.org/obo/owl/GO#GO_0005102
A growth/differentiation factor 5 isoform 1 cleaved form that has been processed to a mature protein by removal of the signal peptide and subsequent release of the propeptide. The functional unit is a dimer.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:8962721
http://purl.org/obo/owl/PMID#PMID_8962721
growth/differentiation factor 7 isoform 1 cleaved 1
GO:0005515 "has_function protein binding [PMID:12741987, TaxID:10090]".nGO:0005576 "located_in extracellular region [PMID:12741987, TaxID:10090]".nGO:0007411 "participates_in axon guidance when bound to PRO:000000612 [PMID:12741987, TaxID:10090]".
pro
GO:0005576
http://purl.org/obo/owl/GO#GO_0005576
A growth/differentiation factor 7 isoform 1 cleaved form that has been processed to a mature protein by removal of the signal peptide and subsequent release of the propeptide.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007411
http://purl.org/obo/owl/GO#GO_0007411
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
inhibin beta C chain isoform 1 cleaved 1
GO:0005160 "contributes_to_function transforming growth factor beta receptor binding [PMID:7826378, TaxID:9606]".nGO:0005576 "located_in extracellular region [PMID:16627954, TaxID:9606; PMID:7826378, TaxID:9606]".nGO:0032926 "participates_in negative regulation of activin receptor signaling pathway [PMID:12960042, TaxID:9606; PMID:16627954, TaxID:9606]".nGO:0043234 "part_of protein complex with PRO:000000637 [PMID:12960042, TaxID:9606; PMID:11134153, TaxID:9606]".nGO:0046983 "has_function protein dimerization activity [PMID:11134153, TaxID:9606]".
pro
GO:0005576
http://purl.org/obo/owl/GO#GO_0005576
GO:0032926
http://purl.org/obo/owl/GO#GO_0032926
GO:0046983
http://purl.org/obo/owl/GO#GO_0046983
An inhibin beta C chain isoform 1 cleaved form that has been processed to the mature peptide by removal of the signal peptide and subsequent release of the propeptide. It can form heterodimers with INHBB or INHBA.
PMID:11134153
http://purl.org/obo/owl/PMID#PMID_11134153
lefty 1 isoform 1 cleaved 1
GO:0005615 "located_in extracellular space [PMID:11278322, TaxID:9606; PMID:18039650, TaxID10090]".nGO:0008285 "participates_in negative regulation of cell proliferation [PMID:15004567, TaxID:10090]".nGO:0009948 "participates_in anterior/posterior axis specification [PMID:15004567, TaxID:10090]".
pro
GO:0009948
http://purl.org/obo/owl/GO#GO_0009948
A lefty 1 isoform 1 cleaved form that has been processed by proteolytic cleavage in the first dibasic RxxR cleavage site of the propeptide region.
PMID:11278322
http://purl.org/obo/owl/PMID#PMID_11278322
PMID:18039650
http://purl.org/obo/owl/PMID#PMID_18039650
GO:0008285
http://purl.org/obo/owl/GO#GO_0008285
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
lefty 1 isoform 1 cleaved 2
GO:0005615 "located_in extracellular space [PMID:11278322, TaxID:9606]".nGO:0043406 "participates_in positive regulation of MAP kinase activity [PMID:11278322, TaxID:9606]".
pro
GO:0043406
http://purl.org/obo/owl/GO#GO_0043406
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
A lefty 1 isoform 1 cleaved form that has been processed by proteolytic cleavage in the second dibasic RxxR cleavage site of the propeptide region.
PMID:11278322
http://purl.org/obo/owl/PMID#PMID_11278322
lefty 2 isoform 1 cleaved 1
GO:0005615 "located_in extracellular space [PMID:11278322, TaxID:9606]".nGO:0007275 "participates_in multicellular organismal development [PMID:10053005, TaxID:9606]".nGO:0007309 "participates_in oocyte axis determination [PMID:10053005, TaxID:9606]".
pro
A lefty 2 isoform 1 cleaved form that has been processed by proteolytic cleavage in the first dibasic RxxR cleavage site of the propeptide region.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007275
http://purl.org/obo/owl/GO#GO_0007275
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0007309
http://purl.org/obo/owl/GO#GO_0007309
lefty 2 isoform 1 cleaved 2
GO:0005615 "located_in extracellular space [PMID:11278322, TaxID:9606]".nGO:0043406 "participates_in positive regulation of MAP kinase activity [PMID:11278322, TaxID:9606]".
pro
A lefty 2 isoform 1 cleaved form that has been processed by proteolytic cleavage in the second dibasic RxxR cleavage site of the propeptide region.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0043406
http://purl.org/obo/owl/GO#GO_0043406
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
smad1 isoform 1 phosphorylated 1
GO:0005057 "has_function receptor signaling protein activity [PMID:10708949]".nGO:0005515 "has_function protein binding [Q8BGV5; PMID:12370310, TaxID:10090; Q9QZH6; PMID:14633973, TaxID:10090; Q04211; PMID:15542835, TaxID10090]".nGO:0005634 "located_in nucleus [PMID:9759503, TaxID:9606; PMID:11509558, TaxID:9606; PMID:10504300, TaxID:10090; PMID:12151307, TaxID:10090; PMID:12370310, TaxID:10090]".nGO:0005667 "part_of transcription factor complex [PMID:14633973, TaxID:10090]".nGO:0007165 "participates_in signal transduction [PMID:9759503]".nGO:0008285 "participates_in negative regulation of cell proliferation [PMID:15899870, TaxID:10090]".nGO:0016563 "has_function transcription activator activity [PMID: 9136927; PMID:15331632]".nGO:0030509 "participates_in BMP signaling pathway [PMID:15198985, TaxID:10090; PMID:12370310, TaxID:10090; PMID:8653785, TaxID:9606]".nGO:0046332 "has_function SMAD binding [PMID:9136927, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".
pro
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
GO:0046332
http://purl.org/obo/owl/GO#GO_0046332
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0016563
http://purl.org/obo/owl/GO#GO_0016563
GO:0008285
http://purl.org/obo/owl/GO#GO_0008285
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
BMP receptor-activated smad1
A smad1 isoform 1 phosphorylated form that has been phosphorylated at the C-terminal SSxS motif as a result of the activation of the bone morphogenetic protein (BMP) signaling pathway.
PMID:9136927
http://purl.org/obo/owl/PMID#PMID_9136927
GO:0005057
http://purl.org/obo/owl/GO#GO_0005057
smad1 isoform 1 phosphorylated and ubiquitinated 1
GO:0030514 "participates_in negative regulation of BMP signaling pathway [PMID:12857866, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine [Q15797:Ser-463/Ser-465, TaxID:9606]".
pro
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
GO:0030514
http://purl.org/obo/owl/GO#GO_0030514
A smad1 isoform 1 phosphorylated and ubiquitinated form that has been phosphorylated at the C-terminal SSxS motif and has been ubiquitinated by smad ubiquitination regulatory factor 1 (PRO:000000466).
PMID:12857866
http://purl.org/obo/owl/PMID#PMID_12857866
smad2 isoform 1 acetylated and phosphorylated 1
GO:0005634 "located_in nucleus [PMID:17074756, TaxID:9606]".nGO:0006355 "participates_in regulation of transcription, DNA-dependent [PMID:17074756, TaxID:9606]".nGO:0007165 "participates_in signal transduction [PMID:17074756, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".nMOD:00723 "has_modification N-acetylated L-lysine".
pro
MOD:00723
http://purl.org/obo/owl/MOD#MOD_00723
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
smad2 sequence 1 acetylated-1 and phosphorylated-1
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0006355
http://purl.org/obo/owl/GO#GO_0006355
A smad2 isoform 1 acetylated and phosphorylated form that has been phosphorylated by TGF-beta receptor activation and further acetylated at a Lys residue within the MH1 domain by coactivators, such as CBP, PCAF and EP300.
PMID:17074756
http://purl.org/obo/owl/PMID#PMID_17074756
smad2 isoform 1 phosphorylated 1
GO:0003713 "has_function transcription coactivator activity [PMID:9689110, TaxID:9609; PMID:15282343, TaxID:10090]".nGO:0005634 "located_in nucleus [PMID:9006934, TaxID:9606; PMID:9346966, TaxID:9606; PMID:11557747, TaxID:10090]".nGO:0006355 "participates_in regulation of transcription, DNA-dependent [PMID: 9689110, TaxID:9606; PMID:15690394, TaxID:9606]".nGO:0007165 "participates_in signal transduction [PMID: 8752209, TaxID:9606; PMID:8980228, TaxID:9606; PMID:9346966, TaxID:9606; PMID:11262418, TaxID:10090]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID: 8752209, TaxID:9606; PMID:8980228, TaxID:9606; PMID:11262418, TaxID:10090]".nGO:0007183 "participates_in SMAD protein complex assembly [PMID:9346966, TaxID:9606]".nGO:0030618 "has_function transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity [PMID:8980228, TaxID:9606; PMID:9346966, TaxID:9606]".nGO:0046332 "has_function SMAD binding [PMID:9311995, TaxID:9606; PMID: 11043574, TaxID:10090]".nMOD:00046 "has_modification O-phosphorylated L-serine".
pro
A smad2 isoform 1 phosphorylated form that has been phosphorylated in the last two Ser residues within the SSxS C-terminal motif by TGF-beta pathway activation.
PMID:8980228
http://purl.org/obo/owl/PMID#PMID_8980228
PMID:9346966
http://purl.org/obo/owl/PMID#PMID_9346966
GO:0046332
http://purl.org/obo/owl/GO#GO_0046332
GO:0030618
http://purl.org/obo/owl/GO#GO_0030618
TGF-beta receptor-activated smad2
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
GO:0003713
http://purl.org/obo/owl/GO#GO_0003713
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0007183
http://purl.org/obo/owl/GO#GO_0007183
GO:0006355
http://purl.org/obo/owl/GO#GO_0006355
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
smad2 isoform 1 phosphorylated 2
GO:0005634 "located_in nucleus [PMID:12193595, TaxID:9606; PMID:17074053, TaxID:9606]".nGO:0006355 "participates_in regulation of transcription, DNA-dependent [PMID:12193595, TaxID:9606]".nGO:0007165 "participates_in signal transduction [PMID:12193595, TaxID:9606]".nGO:0007183 "participates_in SMAD protein complex assembly [PMID:12193595, TaxID:9606]".nGO:0030618 "has_function transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity [PMID:12193595, TaxID:9606]".nGO:0046332 "has_function SMAD binding [PMID:12193595, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".nMOD:00047 "has_modification O-phosphorylated L-threonine".
pro
GO:0030618
http://purl.org/obo/owl/GO#GO_0030618
GO:0007183
http://purl.org/obo/owl/GO#GO_0007183
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
GO:0046332
http://purl.org/obo/owl/GO#GO_0046332
MOD:00047
http://purl.org/obo/owl/MOD#MOD_00047
GO:0006355
http://purl.org/obo/owl/GO#GO_0006355
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
A smad2 isoform 1 phosphorylated form that has been phosphorylated at the N-terminal Px[ST]P motif by ERK1.
PMID:12193595
http://purl.org/obo/owl/PMID#PMID_12193595
smad2 isoform 1 phosphorylated 3
GO:0003713 "NOT has_function transcription coactivator activity [PMID:11027280, TaxID:9606]".nGO:0005737 "located_in cytoplasm [PMID:11027280, TaxID:9606]".nGO:0007165 "participates_in signal transduction [PMID:11027280, TaxID:9606]".nGO:0007183 "participates_in SMAD protein complex assembly [PMID:11027280, TaxID:9606]".nGO:0046332 "has_function SMAD binding [PMID:11027280, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".
pro
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
A smad2 isoform 1 phosphorylated form that has been phosphorylated at a [S/T] residue within the MH1-MH2 domain linker region in response to decorin-induced Ca(2+) signaling.
PRO:000000652
http://purl.org/obo/owl/PRO#PRO_000000652
PMID:11027280
http://purl.org/obo/owl/PMID#PMID_11027280
GO:0007183
http://purl.org/obo/owl/GO#GO_0007183
GO:0046332
http://purl.org/obo/owl/GO#GO_0046332
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
smad2 isoform 1 phosphorylated 4
GO:0003713 "NOT has_function transcription coactivator activity [PMID:10197981, TaxID:9606]".nGO:0005737 "located_in cytoplasm [PMID:10197981, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".nMOD:00047 "has_modification O-phosphorylated L-threonine".
pro
MOD:00047
http://purl.org/obo/owl/MOD#MOD_00047
A smad2 isoform 1 phosphorylated form that has been phosphorylated at the clusters of [S/T]P motifs within the MH1-MH2 domain linker region through the MAP kinase cascade in the oncogenic Ras-activated pathway.
PMID:10197981
http://purl.org/obo/owl/PMID#PMID_10197981
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
smad2 isoform 1 phosphorylated and ubiquitinated 1
GO:0003713 "NOT has_function transcription coactivator activity [PMID:15496141, TaxID:10090]".nGO:0007165 "participates_in signal transduction [PMID:15496141, TaxID:10090]".nMOD:00046 "has_modification O-phosphorylated L-serine".
pro
A smad2 isoform 1 phosphorylated and ubiquitinated form that has been phosphorylated by TGF-beta receptor activation and further ubiquitinated by NEDD4L. This form is targeted for proteosomal degradation.
PMID:15496141
http://purl.org/obo/owl/PMID#PMID_15496141
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
smad2 isoform 2 acetylated and phosphorylated 1
GO:0003677 "has_function DNA binding [PMID:17074756, TaxID:9606]".nGO:0003713 "has_function (increased) transcription coactivator activity [PMID:17074756, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:17074756, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".nMOD:00394 "has_modification acetylated residue [Q15796-2:Lys-19, TaxID:9606]".
pro
MOD:00394
http://purl.org/obo/owl/MOD#MOD_00394
A smad2 isoform 2 phosphorylated form that has been phosphorylated in the last two Ser residues within the SSxS C-terminal motif by TGF-beta pathway activation and acetylated in a Lys residue within the MH1 domain by coactivators, such as CBP, PCAF and EP300.
PMID:17074756
http://purl.org/obo/owl/PMID#PMID_17074756
GO:0003677
http://purl.org/obo/owl/GO#GO_0003677
GO:0003713
http://purl.org/obo/owl/GO#GO_0003713
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
smad2 isoform 2 phosphorylated 1
GO:0003677 "has_function DNA binding [PMID:9873005, TaxID:9606; PMID:14701940, TaxID:9606]".nGO:0003713 "has_function transcription coactivator activity [PMID:9873005, TaxID:9606; PMID:15630024, TaxID:10090]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:9873005, TaxID:9606; PMID:15630024, TaxID:10090]".nGO:0030618 "has_function transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity [PMID:9873005, TaxID:9606; PMID:14701940, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".
pro
A smad2 isoform 2 phosphorylated form that has been phosphorylated in the last two Ser residues within the SSxS C-terminal motif by TGF-beta pathway activation.
PMID:17074756
http://purl.org/obo/owl/PMID#PMID_17074756
PMID:9873005
http://purl.org/obo/owl/PMID#PMID_9873005
PMID:15630024
http://purl.org/obo/owl/PMID#PMID_15630024
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
TGF-beta receptor-activated smad2
GO:0003713
http://purl.org/obo/owl/GO#GO_0003713
GO:0003677
http://purl.org/obo/owl/GO#GO_0003677
GO:0030618
http://purl.org/obo/owl/GO#GO_0030618
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
smad3 isoform 1 acetylated and phosphorylated 1
GO:0003700 "has_function transcription factor activity [PMID: 17074756, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:17074756, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID: 17074756, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".nMOD:00394 "has_modification acetylated residue".
pro
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
A smad3 isoform 1 phosphorylated form that has been phosphorylated by TGF-beta receptor activation and further acetylated in a lysine residue within the MH1 domain by coactivators, such as CBP and EP300.
PMID:17074756
http://purl.org/obo/owl/PMID#PMID_17074756
MOD:00394
http://purl.org/obo/owl/MOD#MOD_00394
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
smad3 isoform 1 phosphorylated 1
GO:0003690 "has_function double-stranded DNA binding [PMID:15282343, TaxID:10090]".nGO:0003700 "has_function transcription factor activity [PMID:10823886, TaxID:10090; PMID:12943993, TaxID:10090; PMID:10823886, TaxID:9606; PMID:12943993, TaxID:TaxID9606]".nGO:0005634 "located_in nucleus [PMID:12943993, TaxID:10090; 15282343, TaxID:10090; PMID:10846168, TaxID:9606; PMID:15280432, TaxID:9606]".nGO:0005667 "part_of transcription factor complex [PMID:9702197, TaxID:10090; PMID:12374795, TaxID:9606; ]".nGO:0006366 "participates_in transcription from RNA polymerase II promoter [PMID:10823886, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:9380693, TaxID:9606; PMID:8774881, TaxID:9606]".nGO:0008134 "has_function transcription factor binding [PMID:9702197, TaxID:10090; PMID:15464984, TaxID:10090; PMID:15084259, TaxID:9606]".nGO:0046332 "has_function SMAD binding [PMID: 9311995, TaxID:9606; 15350224, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".
pro
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0003690
http://purl.org/obo/owl/GO#GO_0003690
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
A smad3 isoform 1 phosphorylated form that has been phosphorylated at the C-terminal SSxS motif as a result of the activation of the transforming growth factor beta signaling pathway.
PMID:8774881
http://purl.org/obo/owl/PMID#PMID_8774881
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
GO:0046332
http://purl.org/obo/owl/GO#GO_0046332
GO:0008134
http://purl.org/obo/owl/GO#GO_0008134
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0006366
http://purl.org/obo/owl/GO#GO_0006366
TGF-beta receptor-activated smad3
smad3 isoform 1 phosphorylated 2
GO:0003700 "has_function (decreased) transcription factor activity [PMID:15241418, TaxID:10090]".nMOD:00046 "has_modification O-phosphorylated L-serine ".nMOD:00047 "has_modification O-phosphorylated L-threonine".
pro
GO:0003700
http://purl.org/obo/owl/GO#GO_0003700
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
MOD:00047
http://purl.org/obo/owl/MOD#MOD_00047
A smad3 isoform 1 phosphorylated form that has been phosphorylated at the N-terminal Px[ST]P motif and the clusters of [ST]P motifs within the MH1-MH2 domain linker region by G1 cyclin-dependent kinases (CDK4 and CDK2) leading to CDK inhibition of its transcriptional activity and antiproliferative function.
PMID:15241418
http://purl.org/obo/owl/PMID#PMID_15241418
smad3 isoform 1 phosphorylated 3
GO:0003713 "NOT has_function transcription coactivator activity [PMID:10197981, TaxID:10090]".nGO:0005737 "located_in cytoplasm [PMID:10197981, TaxID:10090]".nMOD:00046 "has_modification O-phosphorylated L-serine".nMOD:00047 "has_modification O-phosphorylated L-threonine".
pro
A smad3 isoform 1 phosphorylated form that has been phosphorylated at the clusters of [S/T]P motifs within the MH1-MH2 domain linker region through the MAP kinase cascade in oncogenic Ras-activated pathway. TGF-receptor phosphorylation sites are not required for Ras-induced phosphorylation.
PMID:10197981
http://purl.org/obo/owl/PMID#PMID_10197981
MOD:00047
http://purl.org/obo/owl/MOD#MOD_00047
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
smad5 isoform 1 phosphorylated 1
GO:0005057 "has_function receptor signaling protein activity [PMID:8673135, TaxID:9606]".nGO:0005634 "located_in nucleus [PMID:9759503; PMID:10504300, TaxID:10090]".nGO:0016563 "has_function transcription activator activity [PMID:15331632, TaxID:10090]".nGO:0030509 "participates_in BMP signaling pathway [PMID: 8637600, TaxID:9606; PMID:16522160, TaxID:10090]".nMOD:00046 "has_modification O-phosphorylated L-serine".
pro
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0005057
http://purl.org/obo/owl/GO#GO_0005057
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
GO:0016563
http://purl.org/obo/owl/GO#GO_0016563
A smad5 isoform 1 phosphorylated form that has been phosphorylated at the C-terminal SSxS motif as a result of the activation of the bone morphogenetic protein (BMP) signaling pathway.
PMID:8637600
http://purl.org/obo/owl/PMID#PMID_8637600
smad6 isoform 1 methylated 1
GO:0004871 "has_function signal transducer activity [PMID:17118358, TaxID:10090]".nGO:0030617 "has_function transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity [PMID:17118358, TaxID:10090]".nMOD:00429 "has_modification dimethylated residue".
pro
MOD:00429
http://purl.org/obo/owl/MOD#MOD_00429
GO:0030617
http://purl.org/obo/owl/GO#GO_0030617
GO:0004871
http://purl.org/obo/owl/GO#GO_0004871
A smad6 sequence 1 dimethylated form that has been methylated at Arginine residue within the MH1 domain by PRMT1.
PMID:17118358
http://purl.org/obo/owl/PMID#PMID_17118358
smad7 isoform 1 acetylated 1
GO:0005634 "located_in nucleus [PMID:11278814, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:12408818, TaxID:9606]".nGO:0030617 "has_function transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity [PMID:12408818, TaxID:9606]".nMOD:00723 "has_modification N-acetylated L-lysine".
pro
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
A smad7 isoform 1 acetylated form that has been acetylated at Lys residues within the MH1 domain by Histone acetyltransferase p300. Acetylation stabilizes smad7.
PMID:12408818
http://purl.org/obo/owl/PMID#PMID_12408818
MOD:00723
http://purl.org/obo/owl/MOD#MOD_00723
GO:0030617
http://purl.org/obo/owl/GO#GO_0030617
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
smad7 isoform 1 phosphorylated 1
GO:0005634 "located_in nucleus [PMID:11278814, TaxID:9606]".nGO:0007179 "participates_in transforming growth factor beta receptor signaling pathway [PMID:11278814, TaxID:9606]".nGO:0030617 "has_function transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity [PMID:11278814, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine [O35253-1:Ser-249, TaxID:9606]".
pro
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
A smad7 isoform 1 phosphorylated form that has been phosphorylated at the Ser residue within the DSQL sequence region in the MH2 domain.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007179
http://purl.org/obo/owl/GO#GO_0007179
GO:0030617
http://purl.org/obo/owl/GO#GO_0030617
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
smad7 isoform 1 ubiquitinated 1
MOD:01148 "has_modification ubiquitinylated lysine".
pro
MOD:01148
http://purl.org/obo/owl/MOD#MOD_01148
A smad7 isoform 1 ubiquitinated form that has been ubiquitinated at Lys residues within the MH1 domain by Smurf proteins. This targets smad7 for proteosomal degradation.
PMID:12408818
http://purl.org/obo/owl/PMID#PMID_12408818
smad9 isoform 1 phosphorylated 1
GO:0005515 "has_function protein binding [PMID:11163184, TaxID:10090; PMID:15542835, TaxID10090]".nGO:0005634 "located_in nucleus [PMID:10814522, TaxID:10090]".nGO:0030509 "participates_in BMP signaling pathway [PMID:11163184, TaxID:10090; PMID:15542835, TaxID10090]".nMOD:00046 "has_modification O-phosphorylated L-serine".
pro
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
GO:0030509
http://purl.org/obo/owl/GO#GO_0030509
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
A smad9 isoform 1 phosphorylated form that has been phosphorylated at the C-terminal SSxS motif as a result of the activation of the bone morphogenetic protein (BMP) signaling pathway.
PMID:15542835
http://purl.org/obo/owl/PMID#PMID_15542835
smad9 isoform 3 phosphorylated 1
MOD:00046 has_modification O-phosphorylated L-serine.
pro
A smad9 isoform 3 phosphorylated form that has been phosphorylated at the C-terminal SSxS motif.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:17081983
http://purl.org/obo/owl/PMID#PMID_17081983
calcium-activated calmodulin-binding potassium channel, alpha subunit
Pfam:PF03530 "has_part Calcium-activated SK potassium channel domain".nPfam:PF07885 "has_part Ion channel domain".nPfam:PF02888 "has_part Calmodulin binding domain".
pro
Pfam:PF02888
http://purl.org/obo/owl/Pfam#Pfam_PF02888
Pfam:PF03530
http://purl.org/obo/owl/Pfam#Pfam_PF03530
Pfam:PF07885
http://purl.org/obo/owl/Pfam#Pfam_PF07885
A protein with amino- and carboxyl-terminal intracellular domains separated by a domain containing six transmembrane helices (S1-S6) in which the last two helices (S5 and S6) flank a loop, called the pore loop, which determines ion selectivity. They are subunits of the small conductance calcium-activated channels. SK channels are independent of voltage and gated solely by intracellular calcium. These membrane channels are heteromeric complexes that comprise pore-forming alpha-subunits and the calcium-binding protein calmodulin. Calmodulin binds to the SK channel through the calmodulin binding domain, which is located in an intracellular region of the alpha-subunit immediately carboxy-terminal to the pore. Channel opening is triggered when calcium binds the EF hands in the N-lobe of calmodulin. These channels play a crucial role in hyperpolarizing the membrane potential of excitable and nonexcitable cells.
PMID:10026195
http://purl.org/obo/owl/PMID#PMID_10026195
PMID:11323678
http://purl.org/obo/owl/PMID#PMID_11323678
PIRSF:PIRSF038511
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038511
cation channel sperm-associated protein 1
GO:0030317 "participates_in sperm motility [PMID:11595941, TaxID:10090]".nGO:0007342 "participates_in fusion of sperm to egg plasma membrane [PMID:11595941, TaxID:10090]".nGO:0006816 "participates_in calcium ion transport [PMID:11595941, TaxID:10090]".
pro
CatSper1
GO:0030317
http://purl.org/obo/owl/GO#GO_0030317
GO:0007342
http://purl.org/obo/owl/GO#GO_0007342
GO:0006816
http://purl.org/obo/owl/GO#GO_0006816
A protein that is a translation product of the CATSPER1 gene. In mammals, four CatSper ion channel subunit genes (CatSpers 1-4) are required for sperm cell hyperactivation and male fertility. The four proteins assemble (presumably as a tetramer) to form a sperm-specific, alkalinization-activated Ca(2+)-selective channel. CatSper channels seem to require auxiliary subunits, such as CatSperB (PRO:000000672). In common to other channels, CatSper1 proteins have an architecture consisting of six transmembrane domains (S1-S6), arranged in a voltage sensor (S1-S4) and pore modules (S5-P-S6), and with both N and C termini on the intracellular side of the membrane. Unique to this class is the His-rich N-terminus that seems to be involved the pH sensitivity of the channel calcium currents.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cation channel sperm-associated protein 2
GO:0030317 "participates_in sperm motility [PMID:17174296, TaxID:10090; PMID:14657366, TaxID:10090; PMID:17227845, TaxID:10090]".nGO:0001539 "participates_in ciliary or flagellar motility [PMID:14657366, TaxID:10090]". GO:0009566 "participates_in fertilization [PMID:14657366, TaxID:10090]".
pro
GO:0030317
http://purl.org/obo/owl/GO#GO_0030317
GO:0001539
http://purl.org/obo/owl/GO#GO_0001539
A protein that is a translation product of the CATSPER2 gene. In mammals, four CatSper ion channel subunit genes (CatSpers 1-4) are required for sperm cell hyperactivation and male fertility. The four proteins assemble (presumably as a tetramer) to form a sperm-specific, alkalinization-activated Ca(2+)-selective channel. CatSper channels seem to require auxiliary subunits, such as CatSperB (PRO:000000672). In common to other channels, CatSper2 proteins have an architecture consisting of six transmembrane domains (S1-S6), arranged in a voltage sensor (S1-S4) and pore modules (S5-P-S6), and with both N and C termini on the intracellular side of the membrane.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cation channel sperm-associated protein 3
GO:0001539 "participates_in ciliary or flagellar motility [PMID:17227845, TaxID:10090]".nGO:0030317 "participates_in sperm motility [PMID:17227845, TaxID:10090]".nGO:0001669 "located_in acrosome [PMID:16107607, TaxID:10090]".
pro
A protein that is a translation product of the CATSPER3 gene. In mammals, four CatSper ion channel subunit genes (CatSpers 1-4) are required for sperm cell hyperactivation and male fertility. The four proteins assemble (presumably as a tetramer) to form a sperm-specific, alkalinization-activated Ca(2+)-selective channel. CatSper channels seem to require auxiliary subunits, such as CatSperB (PRO:000000672). In common to other channels, CatSper3 proteins have an architecture consisting of six transmembrane domains (S1-S6), arranged in a voltage sensor (S1-S4) and pore modules (S5-P-S6), and with both N and C termini on the intracellular side of the membrane.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0030317
http://purl.org/obo/owl/GO#GO_0030317
GO:0001669
http://purl.org/obo/owl/GO#GO_0001669
GO:0001539
http://purl.org/obo/owl/GO#GO_0001539
cation channel sperm-associated protein, subunit beta
pro
CatSperbeta
A protein that is a translation product of the CATSPERB gene. Members of this class are auxiliary proteins to the CatSper channel. They have four putative transmembrane-spanning domains. In mammals, four CatSper ion channel subunit genes (CatSpers 1-4) are required for sperm cell hyperactivation and male fertility. The four proteins assemble (presumably as a tetramer) to form a sperm-specific, alkalinization-activated Ca(2+)-selective channel.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:17478420
http://purl.org/obo/owl/PMID#PMID_17478420
CatSperB
PIRSF:PIRSF038543
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038543
cyclic nucleotide-gated channel, alpha subunit
Pfam:PF00520 "has_part Ion transport protein".nPfam:PF00027 "has_part Cyclic nucleotide-binding domain".
pro
A protein with amino- and carboxyl-terminal intracellular domains separated by a domain (common to other ion channels) containing six transmembrane helices (S1-S6) in which the last two helices (S5 and S6) flank a loop, called the pore loop, which determines ion selectivity. The carboxy-terminal region contains the cyclic nucleotide-binding domain (CNBD) and a region connecting the CNBD to the S6 segment (C-linker), which is important for modulation by transition metals. In addition, CNG alpha has a carboxy-terminal leucine zipper that seems to be involved in inter-subunit interaction. CNG alpha subunits combine with the beta subunits to form the cyclic nucleotide-gated ion channels, which mediate sensory transduction in photoreceptors and olfactory sensory neurons. These channels are likely composed of four subunits around a centrally located ion-permeable pore that opens in response to the direct binding of intracellular cyclic nucleotides. CNG channels are non-selective cation channels. They are not gated by membrane voltage although their structure includes the transmembrane S4 motif known to function as the membrane voltage sensor in all voltage-gated ion channels, but it has been shown to be important for proper folding and processing. Alpha and beta subunits of the CNG channel are very similar, however only alpha subunits are able to homooligomerize and form functional channels.
PMID:12432397
http://purl.org/obo/owl/PMID#PMID_12432397
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF002403
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF002403
Pfam:PF00520
http://purl.org/obo/owl/Pfam#Pfam_PF00520
Pfam:PF00027
http://purl.org/obo/owl/Pfam#Pfam_PF00027
cyclic nucleotide-gated channel, beta subunit
Pfam:PF00520 "has_part Ion transport protein".nPfam:PF00027 "has_part Cyclic nucleotide-binding domain".
pro
A protein that is a modulatory subunit of the cyclic nucleotide-gated channel (CNG channel). It consists of amino- and carboxyl-terminal intracellular domains separated by a domain (common to other ion channels) containing six transmembrane helices (S1-S6) in which the last two helices (S5 and S6) flank a loop, called the pore loop, which determines ion selectivity. The carboxy-terminal region contains the cyclic nucleotide-binding domain (CNBD) and a region connecting the CNBD to the S6 segment (C-linker), which is important for modulation by transition metals. CNG beta subunits combine with the alpha subunits to form the cyclic nucleotide-gated ion channels, which mediate sensory transduction in photoreceptors and olfactory sensory neurons. These channels are likely composed of four subunits around a centrally located ion-permeable pore that opens in response to the direct binding of intracellular cyclic nucleotides. CNG channels are non-selective cation channels. They are not gated by membrane voltage although their structure includes the transmembrane S4 motif known to function as the membrane voltage sensor in all voltage-gated ion channels, but it has been shown to be important for proper folding and processing. Alpha and beta subunits of the CNG channel are very similar, however the beta subunits are not able to form functional channels by themselves.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF038515
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038515
Pfam:PF00027
http://purl.org/obo/owl/Pfam#Pfam_PF00027
Pfam:PF00520
http://purl.org/obo/owl/Pfam#Pfam_PF00520
platelet-derived growth factor with CUB domain
Pfam:PF00431 "has_part CUB domain".nPfam:PF00341 "has_part Platelet-derived growth factor (PDGF) domain".
pro
Pfam:PF00341
http://purl.org/obo/owl/Pfam#Pfam_PF00341
PIRSF:PIRSF038533
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038533
Pfam:PF00431
http://purl.org/obo/owl/Pfam#Pfam_PF00431
A protein with a core domain composition consisting of a signal peptide, a CUB domain, and a C-terminal platelet-derived growth factor domain.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel protein
Pfam:PF08412 "has_part Ion transport protein N-terminal domain".nPfam:PF00520 "has_part Ion transport protein".nPfam:PF00027 "Cyclic nucleotide-binding domain".
pro
HCN
Pfam:PF00520
http://purl.org/obo/owl/Pfam#Pfam_PF00520
f-channel
PIRSF:PIRSF038514
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038514
Pfam:PF08412
http://purl.org/obo/owl/Pfam#Pfam_PF08412
A protein with amino- and carboxyl-terminal intracellular domains separated by a domain (common to other ion channels) containing six transmembrane helices (S1-S6) in which the last two helices (S5 and S6) flank a loop, called the pore loop, which determines ion selectivity. The N-terminus has a conserved domain that is also present in other voltage-gated potassium and sodium channels. The carboxyl-terminal region contains the cyclic nucleotide-binding domain (CNBD). In addition, there is a structural element called the C-linker, the region connecting the CNBD to the S6 segment, which couples conformational changes in the ligand-binding domain to channel activation. Subunits combine to form the HCN channels. In common to CNG channels , HCN are cation channels that are modulated by cyclic nucleotide binding. Unlike CNG channels, HCN channels are voltage-gated, and are weakly selective for potassium. In contrast to most other voltage-gated channels, HCN channels open upon hyperpolarization and close at positive potential. HCN channels act as a peacemaker by regulating neuronal and cardiac firing rate, but also function as a regulator of membrane resting potential and resistance.
PMID:16382102
http://purl.org/obo/owl/PMID#PMID_16382102
shab-related voltage-gated potassium channel, alpha subunit
Pfam:PF02214 "has_part K+ channel tetramerisation domain".nPfam:PF00520 "has_part Ion transport protein".nPfam:PF03521."has_part Kv2 voltage-gated K+ channel domain".
pro
Pfam:PF02214
http://purl.org/obo/owl/Pfam#Pfam_PF02214
PIRSF:PIRSF038520
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038520
Pfam:PF00520
http://purl.org/obo/owl/Pfam#Pfam_PF00520
A protein that has a conserved carboxyl terminal domain called the Kv2 channel domain. Kv2 channels are known as delayed rectifier channels. Shab-related voltage-potassium channels are involved in maintaining membrane potential and modulating electrical excitability in neurons. In common to other voltage-gated channels, has a domain composition consisting of six transmembrane domains (S1-S6), arranged in a voltage sensor (S1-S4) and pore modules (S5-P-S6), and with both N and C termini on the intracellular side of the membrane. The charged S4 segment with a basic amino acid at every third position confers their voltage sensitivity. In common to Kv3 and Kv4 channels, the tetramerization domain at the N-terminus contains a zinc binding site.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Kv2 channel
sodium leak channel non-selective protein
Pfam:PF00520 "has_part Ion transport protein".nGO:0005216 "contributes_to_function [ISS] ion channel activity".nGO:0006811 "participates_in [ISS] ion transport".
pro
Pfam:PF00520
http://purl.org/obo/owl/Pfam#Pfam_PF00520
PIRSF:PIRSF038547
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038547
Vgcnl1
NALCN
Voltage gated channel-like protein 1
A protein that is a translation product of the NALCN gene. The prototype subunit contains four copies of the six transmembrane ion transport protein domain, but the number of copies of this domain varies among splice variants. Responsible for the background sodium ion leak current in neurons and controls neuronal excitability. They are subunits of a voltage-independent, nonselective cation channel.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:17448995
http://purl.org/obo/owl/PMID#PMID_17448995
transient receptor potential cation channel TRPA
Pfam: PF00023 "has_part Ankyrin repeat".nPfam: PF00520 "has_part Ion transport protein".
pro
A protein that is a member of the subfamily A of the transient receptor potential cation channels (TRPs), with amino- and carboxyl-terminal intracellular domains separated by a domain (common to other ion channels) containing six transmembrane helices (S1-S6) in which the last two helices (S5 and S6) flank a loop, called the pore loop, which determines ion selectivity. The amino terminal domain contains 14-16 ankyrin repeats.nMost TRPs are relatively non-selective. They may be modulated by voltage changes but channel gating is generally effected by other means.
PMID:16460286
http://purl.org/obo/owl/PMID#PMID_16460286
PMID:17579562
http://purl.org/obo/owl/PMID#PMID_17579562
PRO:WB
http://purl.org/obo/owl/PRO#PRO_WB
PMID:16382100
http://purl.org/obo/owl/PMID#PMID_16382100
PIRSF:PIRSF038535
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038535
Pfam:PF00520
http://purl.org/obo/owl/Pfam#Pfam_PF00520
Pfam:PF00023
http://purl.org/obo/owl/Pfam#Pfam_PF00023
transient receptor potential cation channel TRPC
Pfam: PF00023 "has_part Ankyrin repeat".nPfam: PF08344 "has_part Transient receptor ion channel II domain".nPfam: PF00520 "has_part Ion transport protein".
pro
PIRSF:PIRSF005528
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF005528
Pfam:PF08344
http://purl.org/obo/owl/Pfam#Pfam_PF08344
Pfam:PF00520
http://purl.org/obo/owl/Pfam#Pfam_PF00520
A protein that is a member of the subfamily C of the transient receptor potential cation channels (TRPs), with amino- and carboxyl-terminal intracellular domains separated by a domain (common to other ion channels) containing six transmembrane helices (S1-S6) in which the last two helices (S5 and S6) flank a loop, called the pore loop, which determines ion selectivity. The amino terminal domain contains up to 4 detectable ankyrin repeats followed by the transient receptor ion channel II domain.nMost TRPs are relatively non-selective. They may be modulated by voltage changes but channel gating is generally effected by other means.
PMID:17579562
http://purl.org/obo/owl/PMID#PMID_17579562
PMID:16460286
http://purl.org/obo/owl/PMID#PMID_16460286
PMID:16382100
http://purl.org/obo/owl/PMID#PMID_16382100
PRO:WB
http://purl.org/obo/owl/PRO#PRO_WB
Pfam:PF00023
http://purl.org/obo/owl/Pfam#Pfam_PF00023
transient receptor potential cation channel TRPV
Pfam:PF00023 "has_part Ankyrin repeat".nPfam:PF00520 "has_part Ion transport protein".
pro
A protein that is a member of the subfamily V of the transient receptor potential cation channels (TRPs), with amino- and carboxyl-terminal intracellular domains separated by a domain (common to other ion channels) containing six transmembrane helices (S1-S6) in which the last two helices (S5 and S6) flank a loop, called the pore loop, which determines ion selectivity. The amino terminal domain contains up to 6 detectable ankyrin repeats.nMost TRPs are relatively non-selective. They may be modulated by voltage changes but channel gating is generally effected by other means.
PMID:16382100
http://purl.org/obo/owl/PMID#PMID_16382100
PMID:17579562
http://purl.org/obo/owl/PMID#PMID_17579562
PMID:16460286
http://purl.org/obo/owl/PMID#PMID_16460286
PRO:WB
http://purl.org/obo/owl/PRO#PRO_WB
Pfam:PF00520
http://purl.org/obo/owl/Pfam#Pfam_PF00520
Pfam:PF00023
http://purl.org/obo/owl/Pfam#Pfam_PF00023
PIRSF:PIRSF038527
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038527
voltage-gated potassium channel alpha subunit with PAS domain
Pfam:PF00989 "has_part PAS fold domain".nPfam:PF00520 "has_part Ion transport protein".nPfam:PF00027 "has_part Cyclic nucleotide-binding domain".nGO:0008076 "part_of [ISS] voltage-gated potassium channel complex".nGO:0005249 "contributes_to_function [ISS] voltage-gated potassium channel activity".
pro
A protein with amino- and carboxyl-terminal intracellular domains separated by a domain (common to other ion channels) containing six transmembrane helices (S1-S6) in which the last two helices (S5 and S6) flank a loop, called the pore loop, which determines ion selectivity. Unique to this class is the presence of an N-terminal PAS domain. In addition, in the cytoplasmic region downstream from S6, there is a segment that shares substantial similarity to the cyclic nucleotide-binding domain (CNBD) present in cyclic nucleotide-gated cation channel subunits (PRO:000000674 and PRO:000000674). These channels regulate membrane excitability.
PMID:8159766
http://purl.org/obo/owl/PMID#PMID_8159766
Pfam:PF00989
http://purl.org/obo/owl/Pfam#Pfam_PF00989
PIRSF:PIRSF038287
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038287
Pfam:PF00027
http://purl.org/obo/owl/Pfam#Pfam_PF00027
Pfam:PF00520
http://purl.org/obo/owl/Pfam#Pfam_PF00520
voltage-gated potassium channel, alpha subunit KCNA4
Pfam:PF07941 "has_part Potassium channel Kv1.4 tandem inactivation domain".nPfam:PF02214 "has_part K+ channel tetramerisation domain".nPfam:PF00520 "has_part Ion transport protein".
pro
PIRSF:PIRSF038521
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038521
Pfam:PF00520
http://purl.org/obo/owl/Pfam#Pfam_PF00520
Pfam:PF02214
http://purl.org/obo/owl/Pfam#Pfam_PF02214
Pfam:PF07941
http://purl.org/obo/owl/Pfam#Pfam_PF07941
A protein voltage-gated potassium channel alpha subunit that is a translation product of the KCNA4 gene. The Kv1.4 channel is a fast-inactivating channel involved in neuronal afterhypolarization. It can coassemble with other Kv1 subunits. It is closely related to members of the shaker-related voltage-gated potassium channel, but has a unique N-terminal domain, with two tandem inactivation domains (IDs). ID1 may work as a pore-occluding ball domain, whereas ID2 most likely acts as a docking domain that attaches ID1 to the cytoplasmic face of the channel.
PMID:12590144
http://purl.org/obo/owl/PMID#PMID_12590144
Kv1.4
voltage-gated potassium channel subunit KQT
Pfam:PF00520 "has_part Ion transport protein".nPfam:PF03520 "has_part KCNQ voltage-gated potassium channel domain".nGO:0005249 "contributes_to_function [ISS] voltage-gated potassium channel activity".nGO:0008076 "par_of [ISS] voltage-gated potassium channel complex".
pro
A protein with a core domain composition consisting of six transmembrane domains (S1-S6), arranged in a voltage sensor (S1-S4) and pore modules (S5-P-S6), and with both N and C termini on the intracellular side of the membrane. The charged S4 segment with a basic amino acid at every third position confers their voltage sensitivity. Unlike other voltage-gated potassium channels, these proteins lack the N-terminal tetramerization domain (T1), which encodes molecular determinants for subfamily-specific assembly of alpha-subunits into functional tetrameric channels. Also, unique to this class is the presence of a carboxyl terminal domain called the KCNQ voltage-gated potassium channel domain or A-domain. Voltage-gated potassium channels are composed of tetramers of alpha subunits with each alpha subunit containing a voltage sensor and contributing to the central pore. This pore is formed by these subunits that encircle a central ion conduction pathway. KQT channels are responsible for M-type potassium currents in the nervous and auditory systems and slow delayed rectifier K+ currents in the heart.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF038513
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038513
Pfam:PF03520
http://purl.org/obo/owl/Pfam#Pfam_PF03520
Pfam:PF00520
http://purl.org/obo/owl/Pfam#Pfam_PF00520
voltage-gated potassium channel, alpha subunit
Pfam:PF02214 "has_part K+ channel tetramerisation domain".nPfam:PF00520 "has_part Ion transport protein".nGO:0008076 "part_of [ISS] voltage-gated potassium channel complex".nGO:0005249 "contributes_to_function [ISS] voltage-gated potassium channel activity".
pro
Pfam:PF00520
http://purl.org/obo/owl/Pfam#Pfam_PF00520
Pfam:PF02214
http://purl.org/obo/owl/Pfam#Pfam_PF02214
PIRSF:PIRSF002449
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF002449
A protein with a core domain composition consisting of six transmembrane domains (S1-S6), arranged in a voltage sensor (S1-S4) and pore modules (S5-P-S6), and with both N and C termini on the intracellular side of the membrane. The charged S4 segment with a basic amino acid at every third position confers their voltage sensitivity. A hallmark of this class is the presence of an N-terminal tetramerization domain (T1), which encodes molecular determinants for subfamily-specific assembly of alpha-subunits into functional tetrameric channels. Carbonyl oxygen atoms from the potassium channel signature sequence (TTxGYGD) line the selectivity filter, where they preferentially coordinate potassium. Voltage-gated potassium channels are composed of tetramers of alpha subunits with each alpha subunit containing a voltage sensor and contributing to the central pore. This pore is formed by these subunits that encircle a central ion conduction pathway.
PMID:17606609
http://purl.org/obo/owl/PMID#PMID_17606609
PMID:16382097
http://purl.org/obo/owl/PMID#PMID_16382097
PMID:9886290
http://purl.org/obo/owl/PMID#PMID_9886290
cGMP-gated cation channel alpha-1
GO:0005624 "located_in membrane fraction [PMID:15634774, TaxID:10090]".nGO:0001750 "located_in photoreceptor outer segment [PMID:15634774, TaxID:10090]".
pro
<new synonym>
GO:0005624
http://purl.org/obo/owl/GO#GO_0005624
rod alpha subunit
GO:0001750
http://purl.org/obo/owl/GO#GO_0001750
A cyclic nucleotide-gated channel, alpha subunit that is a translation product of the CNGA1 gene. In the retina, these proteins can be activated by cyclic GMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
calcium-selective transient receptor potential cation channel TRPV
pro
A transient receptor potential cation channel TRPV that is distinctive in being insensitive to heat and strongly selective for calcium ion transport.
PMID:17579562
http://purl.org/obo/owl/PMID#PMID_17579562
PMID:16460286
http://purl.org/obo/owl/PMID#PMID_16460286
PMID:16382100
http://purl.org/obo/owl/PMID#PMID_16382100
PRO:WB
http://purl.org/obo/owl/PRO#PRO_WB
PIRSF:PIRSF038519
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038519
cation channel sperm-associated protein 1 isoform 1
GO:0005886 "located_in plasma membrane [PMID:11595941, TaxID:10090]".nGO:0043234 "part_of protein complex [PMID:17478420, TaxID:10090] with CASPERB (PRO:000000695)".nGO:0019861 "located_in flagellum [PMID:11595941, TaxID:10090; PMID:16625279, TaxID:9606; PMID:16740636, TaxID:9606]".nGO:0005515 "has_function protein binding [PMID:16740636, TaxID:9606] with CACNA1I".nGO:0005515 "has_function protein binding [PMID:17227845, TaxID:10090] with CATSPER3 (PRO:000000693)".
pro
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
A cation channel sperm-associated protein 1 that is a translation product of a processed transcript of the CATSPER1 gene encoding all core domains. Represented by the mouse sequence UniProtKB:Q91ZR5-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0019861
http://purl.org/obo/owl/GO#GO_0019861
GO:0005886
http://purl.org/obo/owl/GO#GO_0005886
cation channel sperm-associated protein 2 isoform 1
GO:0005515 "has_function protein binding [PMID:16740636, TaxID:9606] with CACNA1I".
pro
A cation channel sperm-associated protein 2 that is a translation product of the processed transcript of CATSPER2 gene, with the core domain architecture, as in the human sequence UniProtKB:Q96P56-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
cation channel sperm-associated protein 2 isoform 2
pro
A cation channel sperm-associated protein 2 that is a translation product of the processed transcript of CATSPER2 gene, with all core domains, uses an alternate in-frame splice site in the coding region, compared to variant 2, resulting in a protein that is two amino acids shorter than isoform 1 (PRO:000000689) after the S6 segment, as in the human sequence UniProtKB:Q96P56-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cation channel sperm-associated protein 2 isoform 3
pro
A cation channel sperm-associated protein 2 that is a translation product of the processed transcript of CATSPER2 gene which uses an alternate splice site in the coding region that causes a frameshift. This form lacks most of the cytoplasmic C-terminal domain, as in the human sequence UniProtKB:Q96P56-3.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cation channel sperm-associated protein 2 isoform 4
GO:0009434 "located_in microtubule-based flagellum [PMID:11675491, TaxID:10090; PMID:14657366, TaxID:10090]".
pro
GO:0009434
http://purl.org/obo/owl/GO#GO_0009434
A cation channel sperm-associated protein 2 that is a translation product of the processed transcript of CATSPER2 gene, with the core domain architecture, and with an additional unconventional leucine zipper motif at the C-terminus, as in the mouse sequence UniProtKB:A2ARP9-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cation channel sperm-associated protein 3 isoform 1
GO:0005515 "has_function protein binding [PMID:17227845, TaxID:10090] with CATSPER1 (PRO:000000688)".
pro
A cation channel sperm-associated protein 3 that is a translation product of the processed transcript of CATSPER3 gene, with the core domain architecture, as in the mouse sequence UniProtKB:Q80W99-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
cation channel sperm-associated protein 3 isoform 2
pro
A cation channel sperm-associated protein 3 that is a translation product of the processed transcript of CATSPER3 gene, missing the exon coding for the C-terminal part of the first loop and most of the predicted transmembrane S2 segment, as in the mouse sequence UniProtKB:Q80W99-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cation channel sperm-associated protein, subunit beta isoform 1
GO:0043234 "part_of protein complex [PMID:17478420, TaxID:10090] with CATSPER1 (PRO:000000688)".
pro
A cation channel sperm-associated protein, subunit beta that is a translation product of a processed transcript of the CASPERB gene, and that includes the putative transmembrane domains, as in the human sequence UniProtKB:Q9H7T0-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cyclic nucleotide-gated cation channel alpha-3
pro
A cyclic nucleotide-gated channel, alpha subunit that is a translation product of the CNGA3 gene, which codes for the alpha subunits of the cone cyclic nucleotide-gated cation channel. This channel generates the light-evoked electrical responses of cone photoreceptors.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cyclic nucleotide-gated cation channel beta-3
pro
PIRSF:PIRSF501006
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF501006
A cyclic nucleotide-gated channel, beta subunit that is a translation product of the CNGB3 gene. Many members of this class are subunits of the cone cyclic nucleotide-gated cation channel, which generates the light-evoked electrical responses of cone photoreceptors.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
CNG channel beta-3
Cng6
Cone photoreceptor cGMP-gated channel subunit beta
cyclic nucleotide-gated olfactory channel
GO:0005216 "has_function ion channel activity [PMID:10798394, TaxID:10090]".nGO:0007608 "participates_in sensory perception of smell [PMID:10798394, TaxID:10090]".
pro
A cyclic nucleotide-gated channel, alpha subunit that is a translation product of the CNGA2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007608
http://purl.org/obo/owl/GO#GO_0007608
CNG channel alpha-2
cyclic nucleotide-gated cation channel 2
GO:0005216
http://purl.org/obo/owl/GO#GO_0005216
transient receptor potential cation channel TRPA1
GO:0005262 "has_function calcium channel activity [PMID:12654248,TaxID:10090]".nGO:0009409 "participates_in response to cold [PMID:12654248, TaxID:10090]".nGO:0050955 "participates_in thermoception [PMID:12654248, TaxID:10090]".
pro
Ankyrin-like with transmembrane domains protein 1
GO:0050955
http://purl.org/obo/owl/GO#GO_0050955
GO:0009409
http://purl.org/obo/owl/GO#GO_0009409
A transient receptor potential cation channel TRP that is a translation product of the TRPA1 gene.
PRO:HJD
http://purl.org/obo/owl/PRO#PRO_HJD
GO:0005262
http://purl.org/obo/owl/GO#GO_0005262
intermediate conductance calcium-activated potassium channel protein 4
GO:0006952 "participates_in defense response [PMID:9407042, TaxID:9606; PMID:11278890]".
pro
GO:0006952
http://purl.org/obo/owl/GO#GO_0006952
A calcium-activated calmodulin-binding potassium channel, alpha subunit that is a translation product of the KCNN4 gene. It forms a voltage-independent potassium channel that is activated by intracellular calcium. Activation is followed by membrane hyperpolarization which promotes calcium influx. The channel is blocked by clotrimazole and charybdotoxin but is insensitive to apamin. This feature distinguishes the intermediate from the small conductance channels.
PMID:9326665
http://purl.org/obo/owl/PMID#PMID_9326665
PMID:9407042
http://purl.org/obo/owl/PMID#PMID_9407042
SK4
IK1
IKCa1
modulatory voltage-gated potassium channel subunit KCNG
GO:0015459 "has_function [ISS] potassium channel regulator activity".
pro
GO:0015459
http://purl.org/obo/owl/GO#GO_0015459
PIRSF:PIRSF500980
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500980
A voltage-gated potassium channel, alpha subunit that is a modulator of the shab-related potassium channels (Kv2). Similarly to KCNF1, KCNV and KCNS subunits, KCNG subunits are not able to form functional channels on their own. Also in common to these modulatory subunits, it lacks the conserved PxP motif located in the distal part of S6. In this class the motif is PxT. The alteration of the PxP motif seems to be an important determinant of the regulatory function of modulatory subunits.
PMID:9305895
http://purl.org/obo/owl/PMID#PMID_9305895
silent subunit
modulatory voltage-gated potassium channel subunit KCNS
GO:0015459 "has_function [ISS] potassium channel regulator activity".
pro
PIRSF:PIRSF500981
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500981
GO:0015459
http://purl.org/obo/owl/GO#GO_0015459
A voltage-gated potassium channel, alpha subunit that is a modulator of the shab-related potassium channels (Kv2). Similarly to KCNF1, KCNV and KCNG subunits, KCNS subunits are not able to form functional channels on their own. Also in common to these modulatory subunits, it lacks the conserved PxP motif located in the distal part of S6. In this class the motif is PIT. The alteration of the PxP motif seems to be an important determinant of the regulatory function of modulatory subunits.
PMID:9305895
http://purl.org/obo/owl/PMID#PMID_9305895
PMID:12642579
http://purl.org/obo/owl/PMID#PMID_12642579
silent subunit
platelet-derived growth factor C
pro
A platelet-derived growth factor with CUB domain that is a translation product of the PDGFC gene. Potent mitogen and chemoattractant for cells of mesenchymal origin. Binding of this growth factor to its affinity receptor elicits a variety of cellular responses. Appears to be involved in the three stages of wound healing: inflammation, proliferation and remodeling.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Fallotein
PDGF-C
SCDGF
VEGF-E
platelet-derived growth factor D
pro
A platelet-derived growth factor with CUB domain that is a translation product of the PDGFD gene. Potent mitogen for cells of mesenchymal origin.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1
pro
A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel protein that is a translation product of the HCN1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
BCNG-1
HCN1
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2
GO:0005261 "has_function cation channel activity [PMID:10228147, TaxID:9606]".nGO:0006936 "participates_in muscle contraction [PMID:10228147, TaxID:9606]".nGO:0007267 "participates_in cell-cell signaling [PMID:9630217, TaxID:9606]".nGO:0006812 "participates_in cation transport [PMID:10228147, TaxID:9606]".
pro
GO:0006936
http://purl.org/obo/owl/GO#GO_0006936
GO:0007267
http://purl.org/obo/owl/GO#GO_0007267
PIRSF:PIRSF500961
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500961
GO:0005261
http://purl.org/obo/owl/GO#GO_0005261
BCNG-2
GO:0006812
http://purl.org/obo/owl/GO#GO_0006812
Hac1
A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel protein that is a translation product of the HCN2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3
pro
A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel protein that is a translation product of the HCN3 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF500962
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500962
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4
pro
PIRSF:PIRSF500963
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500963
A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel protein that is a translation product of the HCN4 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
shaker-related voltage-gated potassium channel, alpha subunit
pro
A voltage-gated potassium channel, alpha subunit that is a member of the subfamily A of voltage-gated potassium channels. The N-terminus is rich in basic residues and this region is critical for the N-type inactivation. Shaker-related voltage-gated potassium channels (Kv1 channels) play an important role in modulating electrical excitability of axons.
PMID:11506885
http://purl.org/obo/owl/PMID#PMID_11506885
Kv1
shal-related voltage-gated potassium channel
pro
A-type potassium channel
Kv4
pore-forming Kv4 alpha subunits
PIRSF:PIRSF500983
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500983
A voltage-gated potassium channel, alpha subunit that is a constituent of the Kv4 channels, responsible for transient, voltage-dependent potassium currents (A currents) in the brain and heart.The unique motif KSCASE is absolutely conserved in all Shal-related channel subunits. Mutations in this region drastically affect deactivation and inactivation. This motif is located in the cytoplasmatic S4-S5 loop. In common to Kv2 and Kv3 channels, the tetramerization domain at the N-terminus contains a zinc binding site. Kv.4 channels are modulated by Kv4 Channel Interacting Proteins (KChIPs1-4), which bind to the cytoplasmic N-terminal domain.
PMID:15555915
http://purl.org/obo/owl/PMID#PMID_15555915
shaw-related voltage-gated potassium channel, alpha subunit
pro
Kv3 channel
PIRSF:PIRSF500973
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500973
A voltage-gated potassium channel, alpha subunit that is a constituent of Kv3 channels. These proteins are characterized by the high sequence conservation in the S5 segment which seems to determine the gating properties of the Kv3 channels: rightward shifted voltage dependence and fast deactivation rates. They also contain an ATM motif at the lysine-rich C-terminal region that is unique to this group. Kv3 channels are necessary for high-frequency, repetitive firing of action potentials. High activation threshold is a hallmark of Kv3 channels. They regulate rapid spiking, transmitter release and dendritic integration of many central neurons. In common to Kv2 and Kv4 channels, the tetramerization domain at the N-terminus contains a zinc-binding site.
PMID:11506885
http://purl.org/obo/owl/PMID#PMID_11506885
small conductance calcium-activated potassium channel protein 1
GO:0005516 "has_function calmodulin binding [PMID:10026195, TaxID:9606]".
pro
GO:0005516
http://purl.org/obo/owl/GO#GO_0005516
A calcium-activated calmodulin-binding potassium channel, alpha subunit that is a translation product of the KCNN1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SK1
small conductance calcium-activated potassium channel protein 2
pro
A calcium-activated calmodulin-binding potassium channel, alpha subunit that is a translation product of the KCNN2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
small conductance calcium-activated potassium channel protein 3
pro
A calcium-activated calmodulin-binding potassium channel, alpha subunit that is a translation product of the KCNN3 gene. The KCNN3 gene contains two arrays of CAG trinucleotide repeats, which are highly polymorphic. The SK3 channels are thought to regulate neuronal excitability by contributing to the slow component of synaptic afterhyperpolarization.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
SKCa3
sodium leak channel non-selective protein isoform 1
pro
A sodium leak channel non-selective protein that is a translation product of a processed transcript of the NALCN gene, and that contains the four copies of the 6 transmembrane ion transport protein domain, as in sequence UniProtKB:Q8IZF0-1. Responsible for the background sodium ion leak current in neurons and controls neuronal excitability.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
sodium leak channel non-selective protein isoform 2
pro
A Sodium leak channel non-selective protein that is a translation product of a processed transcript of the NALCN gene, and that lacks three of the six transmembrane ion transport domain at the C-terminus, as in the human sequence UniProtKB:Q8IZF0-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
sodium leak channel non-selective protein isoform 3
Pfam:PF00520 "NOT has_part Ion transport protein".
pro
sodium leak channel non-selective protein isoform 4
A sodium leak channel non-selective protein that is a translation product of a processed transcript of the NALCN gene, and that contains only a partial copy of the most N-terminal transmembrane ion transport domain, as in the human sequence UniProtKB:Q8IZF0-3.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
transient receptor potential cation channel TRPC3/6/7
pro
DAG-sensitive TRPC
PIRSF:PIRSF500999
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500999
A transient receptor potential cation channel TRPC that is a member of a subgroup of subfamily C containing the very similar TRPC3, TRPC6, and TRPC7. They form homomeric or heteromeric nonselective cation channels that generate double-rectifying currents and are activated by diacylglycerol.
PMID:17579562
http://purl.org/obo/owl/PMID#PMID_17579562
PMID:16460286
http://purl.org/obo/owl/PMID#PMID_16460286
PMID:16382100
http://purl.org/obo/owl/PMID#PMID_16382100
voltage-gated potassium channel Eag, alpha subunit
pro
PIRSF:PIRSF500995
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500995
A voltage-gated potassium channel alpha subunit with PAS domain whose activation is characterized by a nonsuperimposable Cole-Moore shift , in which the time course of activation becomes slower and more sigmoidal as the prepulse or holding potential is made more negative and, as a consequence, the currents do not superimpose when aligned by shifting along the time axis.
PMID:10191308
http://purl.org/obo/owl/PMID#PMID_10191308
PMID:6275922
http://purl.org/obo/owl/PMID#PMID_6275922
voltage-gated potassium channel Elk, alpha subunit
pro
PIRSF:PIRSF500884
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500884
voltage-gated potassium channel Erg, alpha subunit
pro
A voltage-gated potassium channel alpha subunit with PAS domain which is characterized by its nanomolar sensitivity to class III antiarrhythmic drugs.
PMID:7604285
http://purl.org/obo/owl/PMID#PMID_7604285
PIRSF:PIRSF500886
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500886
voltage-gated potassium channel KCNB1
pro
A shab-related voltage-gated potassium channel, alpha subunit that is a translation product of the KCNB1 gene. It associates with other subunits to generate a delayed rectifier potassium channel.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
KV2.1
Potassium voltage-gated channel subfamily B member 1
voltage-gated potassium channel KCNB2
pro
Potassium voltage-gated channel subfamily B member 2
A shab-related voltage-gated potassium channel, alpha subunit that is a translation product of the KCNB2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
KV2.2
voltage-gated potassium channel KCNF1
GO:0005251 "contributes_to_function delayed rectifier potassium channel activity [PMID:9696692]".nGO:0008076 "part_of voltage-gated potassium channel complex [PMID:9696692]".nGO:0015459 "has_function potassium channel regulator activity [PMID:9696692]".
pro
A voltage-gated potassium channel, alpha subunit that is a translation product of the KCNF1 gene. KCNF1 is a modulator of the shab-related potassium channels (Kv2). Unlike other potassium channel subunits, KCNF1 subunits are not able to form functional channels on their own.
PMID:9696692
http://purl.org/obo/owl/PMID#PMID_9696692
GO:0015459
http://purl.org/obo/owl/GO#GO_0015459
KV5.1
Potassium voltage-gated channel subfamily F member 1
PIRSF:PIRSF500982
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500982
voltage-gated potassium channel KCNV1
GO:0015459 "has_function [ISS] potassium channel regulator activity".
pro
Potassium voltage-gated channel subfamily V member 1
GO:0015459
http://purl.org/obo/owl/GO#GO_0015459
PANTHER:PTHR11537:SF38
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11537:SF38
A voltage-gated potassium channel, alpha subunit that is a translation product of the KCNV1 gene. It has an atypical S6 segment containing the structural elements that modify inactivation of Kv2 channels. Similarly to KCNF1, KCNV1 and KCNS, KCNV2 subunits are not able to form functional channels on their own. Also in common to these modulatory subunits, it lacks the conserved PxP motif located in the distal part of S6. In this class the motif is PIA. The alteration of the PxP motif seems to be an important determinant of the regulatory function of modulatory subunits. It modulates the activity of KCNB1 and KCNB2 channels by changing kinetics and levels of expression and by shifting the half-inactivation potential to more polarized values.
PMID:16382104
http://purl.org/obo/owl/PMID#PMID_16382104
Kv8.1
voltage-gated potassium channel KCNV2
GO:0015459 "has_function [ISS] potassium channel regulator activity".
pro
GO:0015459
http://purl.org/obo/owl/GO#GO_0015459
A voltage-gated potassium channel, alpha subunit that is a translation product of the KCNV2 gene. Similarly to KCNF1, KCNV1 and KCNS, KCNV2 subunits are not able to form functional channels on their own. Also in common to these modulatory subunits, it lacks the conserved PxP motif located in the distal part of S6. In this class the motif is PIS. The alteration of the PxP motif seems to be an important determinant of the regulatory function of modulatory subunits.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Voltage-gated potassium channel subunit Kv8.2
Potassium voltage-gated channel subfamily V member 2
KV8.2
voltage-gated potassium channel subunit KCNA4 isoform 1
pro
A voltage-gated potassium channel subunit KCNA4 that is a translation product of a processed transcript of the KCNA4 gene, and that includes the potassium channel alpha subunit core domains, as in the mouse sequence UniProtKB:Q8CBF8-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNQ1
pro
KvLQT1
A voltage-gated potassium channel subunit KQT that is a translation product of the KCNQ1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF500964
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500964
KV7.1
Kcna9
voltage-gated potassium channel subunit KCNQ2
pro
PIRSF:PIRSF500965
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500965
A voltage-gated potassium channel subunit KQT that is a translation product of the KCNQ2 gene. Most of the isoforms are generated by splicing that is restricted to a region that encodes the intracellular C-terminal domain of the channel (exons 7-16 in rat). From these, there are two main classes, one containing exon 16 in-frame, and others with an alternative splice junction in exon 14 that results in a frameshift and early termination. In addition, exons 12 and 13 have alternative splice junctions, and exons 8,11, and 15a are subject to splicing. Many members of this class can form heteromeric channels with members of the class KCNQ3 (PRO:000000730). Some forms of KCNQ2 contain two binding calmodulin binding sites and calmodulin is tethered constitutively to KCNQ channels.
PMID:12223552
http://purl.org/obo/owl/PMID#PMID_12223552
PMID:11230508
http://purl.org/obo/owl/PMID#PMID_11230508
voltage-gated potassium channel subunit KCNQ3
GO:0007268 "participates_in synaptic transmission [PMID:9425900, TaxID:9606]".nGO:0006813 "participates_in potassium ion transport [PMID:9677360, TaxID:9606]".
pro
GO:0007268
http://purl.org/obo/owl/GO#GO_0007268
A voltage-gated potassium channel subunit KQT that is a translation product of the KCNQ3 gene. Many members of this class can form heteromeric channels with members of the class KCNQ2 (PRO:000000729) or KCNQ5 with essentially identical properties to the channel underlying the native M-current.
PMID:10479678
http://purl.org/obo/owl/PMID#PMID_10479678
PIRSF:PIRSF500966
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500966
Potassium voltage-gated channel subfamily KQT member 3
GO:0006813
http://purl.org/obo/owl/GO#GO_0006813
voltage-gated potassium channel subunit KCNQ4
GO:0042472 "participates_in inner ear morphogenesis [PMID:16437162, TaxID:10090]".nGO:0007605 "participates_in sensory perception of sound [PMID:16437162, TaxID:10090]".
pro
PIRSF:PIRSF500967
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500967
GO:0007605
http://purl.org/obo/owl/GO#GO_0007605
GO:0042472
http://purl.org/obo/owl/GO#GO_0042472
A voltage-gated potassium channel subunit KQT that is a translation product of the KCNQ4 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PANTHER:PTHR11537:SF4
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11537:SF4
Potassium voltage-gated channel subfamily KQT member 4
Kv7.4
Potassium channel subunit alpha KvLQT4
voltage-gated potassium channel subunit KCNQ5
pro
A voltage-gated potassium channel subunit KQT that is a translation product of the KCNQ5 gene. It contributes to M-type potassium currents. It is also inhibited by M1 muscarinic receptor activation.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Potassium voltage-gated channel subfamily KQT member 5
PIRSF:PIRSF500968
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF500968
cGMP-gated cation channel alpha-1 isoform 1
GO:0005887 "located_in integral to plasma membrane [PMID:7479749, TaxID:9606]".nGO:0017071 "part_of intracellular cyclic nucleotide activated cation channel complex [PMID:12467591, TaxID:9913; PMID:12432397, TaxID:9913]".nGO:0030553 "has_function cGMP binding [PMID:10366613, TaxID:9913]".
pro
GO:0030553
http://purl.org/obo/owl/GO#GO_0030553
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
A cGMP-gated cation channel alpha-1 that is a translation product of a processed transcript of the CNGA1 gene encoding all core domains. Represented by the human sequence UniProtKB:P29973.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cGMP-gated cation channel alpha-1 sequence variant 1
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:268000 "agent_in RETINITIS PIGMENTOSA".nGO:0005887 "NOT located_in integral to plasma membrane [PMID:7479749, TaxID:9606]".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A cGMP-gated cation channel alpha-1 that is a translation product of the a polymorphic sequence variant of CNGA1 gene that has a Phe residue at the position equivalent to Ser-316 in the human sequence UniProtKB:P29973.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:268000
http://purl.org/obo/owl/MIM#MIM_268000
cyclic nucleotide-gated cation channel alpha-3 isoform 1
GO:0015276 "has_function ligand-gated ion channel activity [PMID:9517456, TaxID:9606]".nGO:0007165 "participates_in signal transduction [PMID:9517456, TaxID:9606]".nGO:0017071 "part_of intracellular cyclic nucleotide activated cation channel complex [PMID:12467591, TaxID:9606]".
pro
GO:0015276
http://purl.org/obo/owl/GO#GO_0015276
GO:0007165
http://purl.org/obo/owl/GO#GO_0007165
A cyclic nucleotide-gated cation channel alpha-3 that is a translation product of a processed transcript of the CNGA3 gene, and that includes all core domains, and the N-terminal region coded by exons 3 and 5. Represented by the human sequence UniProtKB:Q16281. Exon nomenclature from PMID:8922401 and 10813773.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cyclic nucleotide-gated cation channel alpha-3 isoform 2
GO:0005221 "contributes_to_function intracellular cyclic nucleotide activated cation channel activity [PMID:10662822, TaxID:10090]".nGO:0001750 "located_in photoreceptor outer segment [PMID:15634774, TaxID:10090; PMID:10813773, TaxID:10090]".nGO:0043234 "part_of protein complex [PMID:10662822, TaxID:10090]".
pro
A cyclic nucleotide-gated cation channel alpha-3 that is a translation product of a processed transcript of the CNGA3 gene, and that includes all core domains, but lacks the N-terminal region coded by exons 3, 5 and 6. Represented by sequence UniProtKB:Q9JJZ8 . Exon nomenclature from PMID:8922401 and 10813773.
PMID:10813773
http://purl.org/obo/owl/PMID#PMID_10813773
GO:0001750
http://purl.org/obo/owl/GO#GO_0001750
cyclic nucleotide-gated cation channel alpha-3 sequence variant 1
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9662398, TaxID:9606]".nMIM:216900 "agent_in ACHROMATOPSIA 2".
pro
MIM:216900
http://purl.org/obo/owl/MIM#MIM_216900
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A cyclic nucleotide-gated cation channel alpha-3 that is a translation product of a polymorphic sequence variant of the CNGA3 gene that has a Gln residue at the position equivalent to Arg-283 in the human sequence UniProtKB:Q16281. This residue is located within the segment S4.
PMID:9662398
http://purl.org/obo/owl/PMID#PMID_9662398
cyclic nucleotide-gated cation channel alpha-3 sequence variant 2
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9662398, TaxID:9606]".nMIM:216900 "agent_in ACHROMATOPSIA 2".
pro
A cyclic nucleotide-gated cation channel alpha-3 that is a translation product of a polymorphic sequence variant of the CNGA3 gene that has a Arg residue at the position equivalent to Thr-291 in the human sequence UniProtKB:Q16281. This residue is located within the segment S4.
PMID:9662398
http://purl.org/obo/owl/PMID#PMID_9662398
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:216900
http://purl.org/obo/owl/MIM#MIM_216900
cyclic nucleotide-gated cation channel alpha-3 sequence variant 3
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9662398, TaxID:9606]".nMIM:216900 "agent_in ACHROMATOPSIA 2".
pro
A cyclic nucleotide-gated cation channel alpha-3 that is a translation product of a polymorphic sequence variant of the CNGA3 gene that has a Arg residue at the position equivalent to Gly-557 in the human sequence UniProtKB:Q16281. This residue is located within the cytoplasmic cyclic nucleotide binding domain (CNBD).
PMID:9662398
http://purl.org/obo/owl/PMID#PMID_9662398
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:216900
http://purl.org/obo/owl/MIM#MIM_216900
cyclic nucleotide-gated cation channel alpha-3 sequence variant 4
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9662398, TaxID:9606]".nMIM:216900 "agent_in ACHROMATOPSIA 2".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:216900
http://purl.org/obo/owl/MIM#MIM_216900
A cyclic nucleotide-gated cation channel alpha-3 that is a translation product of a polymorphic sequence variant of the CNGA3 gene that has a Met residue at the position equivalent to Val-529 in the human sequence UniProtKB:Q16281. This residue is located within the cytoplasmic cyclic nucleotide binding domain (CNBD).
PMID:9662398
http://purl.org/obo/owl/PMID#PMID_9662398
cyclic nucleotide-gated cation channel alpha-3 sequence variant 5
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9662398,TaxID:9606]".nMIM:216900 "agent_in ACHROMATOPSIA 2".
pro
A cyclic nucleotide-gated cation channel alpha-3 that is a translation product of a polymorphic sequence variant of the CNGA3 gene that has a Trp residue at the position equivalent to Arg-283 in the human sequence UniProtKB:Q16281. This residue is located within the segment S4.
PMID:9662398
http://purl.org/obo/owl/PMID#PMID_9662398
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:216900
http://purl.org/obo/owl/MIM#MIM_216900
cyclic nucleotide-gated cation channel alpha-3 sequence variant 6
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9662398,TaxID:9606]".nMIM:216900 "agent_in ACHROMATOPSIA 2".
pro
MIM:216900
http://purl.org/obo/owl/MIM#MIM_216900
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A cyclic nucleotide-gated cation channel alpha-3 that is a translation product of a polymorphic sequence variant of the CNGA3 gene that has a Leu residue at the position equivalent to Phe-547 in the human sequence UniProtKB:Q16281. This residue is located within the cytoplasmic cyclic nucleotide binding domain (CNBD).
PMID:9662398
http://purl.org/obo/owl/PMID#PMID_9662398
cyclic nucleotide-gated cation channel alpha-3 sequence variant 7
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9662398, TaxID:9606]".nMIM:216900 "agent_in ACHROMATOPSIA 2".
pro
A cyclic nucleotide-gated cation channel alpha-3 that is a translation product of a polymorphic sequence variant of the CNGA3 gene that has a Trp residue at the position equivalent to Arg-410 in the human sequence UniProtKB:Q16281. This residue is located at the cytoplasmic C-terminus.
PMID:9662398
http://purl.org/obo/owl/PMID#PMID_9662398
MIM:216900
http://purl.org/obo/owl/MIM#MIM_216900
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
cyclic nucleotide-gated cation channel alpha-3 sequence variant 8
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9662398, TaxID:9606]".nMIM:216900 "agent_in ACHROMATOPSIA 2".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:216900
http://purl.org/obo/owl/MIM#MIM_216900
A cyclic nucleotide-gated cation channel alpha-3 that is a translation product of a polymorphic sequence variant of the CNGA3 gene that has a Leu residue at the position equivalent to Pro-163 in the human sequence UniProtKB:Q16281.
PMID:9662398
http://purl.org/obo/owl/PMID#PMID_9662398
cyclic nucleotide-gated cation channel beta-3 isoform 1
GO:0005515 "has_function protein binding [PMID:10662822, TaxID:10090]".nGO:0005223 "has_function intracellular cGMP activated cation channel activity [PMID:10662822, TaxID:10090]".nGO:0001750 "located_in photoreceptor outer segment [PMID:15634774, TaxID:10090]".nGO:0005886 "located_in plasma membrane [PMID:10662822, TaxID:10090]".
pro
A cyclic nucleotide-gated cation channel beta-3 that is a translation product of a processed transcript of the CNGB3 gene, and that contains the core domains but lacks the C-terminal region after the cyclic nucleotide binding domain (CNBD), as in the mouse sequence UniProtKB:Q9JJZ9-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005886
http://purl.org/obo/owl/GO#GO_0005886
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
GO:0005223
http://purl.org/obo/owl/GO#GO_0005223
GO:0001750
http://purl.org/obo/owl/GO#GO_0001750
cyclic nucleotide-gated cation channel beta-3 isoform 2
pro
A cyclic nucleotide-gated cation channel beta-3 that is a translation product of a processed transcript of the CNGB3 gene, A cyclic nucleotide-gated cation channel beta-3 that is a translation product of a processed transcript of the CNGB3 gene, and that contains the core domains and the extended C-terminal region after the cyclic nucleotide binding domain (CNBD), but with five missing residues within this domain as compared to isoform 3. Represented by the human sequence UniProtKB:Q9NQW8-2.
PMID:10888875
http://purl.org/obo/owl/PMID#PMID_10888875
cyclic nucleotide-gated cation channel beta-3 isoform 3
pro
A cyclic nucleotide-gated cation channel beta-3 that is a translation product of a processed transcript of the CNGB3 gene, and that contains the core domains and the extended C-terminal region after the cyclic nucleotide binding domain (CNBD), as in the human sequence UniProtKB:Q9NQW8-1.
PMID:10958649
http://purl.org/obo/owl/PMID#PMID_10958649
cyclic nucleotide-gated cation channel beta-3 sequence variant 1
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10958649, TaxID:9606]".nMIM:262300 "agent_in ACHROMATOPSIA 3".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:262300
http://purl.org/obo/owl/MIM#MIM_262300
A cyclic nucleotide-gated cation channel beta-3 that is a translation product of a polymorphic sequence variant of the CNGB3 gene that has a Phe residue at the position equivalent to Ser-435 in the human sequence UniProtKB:Q9NQW8.
PMID:10958649
http://purl.org/obo/owl/PMID#PMID_10958649
intermediate conductance calcium-activated potassium channel protein 4 isoform 1
GO:0050714 "participates_in positive regulation of protein secretion [PMID:11724775, TaxID:10090]".nGO:0015269 "has_function calcium-activated potassium channel activity [PMID:11724775; TaxID:10090]".nGO:0005516 "has_function calmodulin binding [PMID:10026195, TaxID:9606]".nGO:0009986 "located_in cell surface [PMID:11395478, TaxID:9606]".
pro
GO:0050714
http://purl.org/obo/owl/GO#GO_0050714
An intermediate conductance calcium-activated potassium channel protein 4 that is a translation product of a processed transcript of the KCNN4 gene. It contains all core domains, as in the human sequence UniProtKB:O15554-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
GO:0005516
http://purl.org/obo/owl/GO#GO_0005516
GO:0015269
http://purl.org/obo/owl/GO#GO_0015269
platelet-derived growth factor C isoform 1
pro
A platelet-derived growth factor C that is a translation product of a processed transcript of the PDGFC gene, and that includes the core domains, as in the human sequence UniProtKB:Q9NRA1-1. This form is the precursor.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 isoform 1
GO:0005222 "contributes_to_function intracellular cAMP activated cation channel activity [PMID:9630217, TaxID:10090; PMID:11459060, TaxID:10090]".nGO:0005261 "has_function cation channel activity [PMID:9630217, TaxID:10090]".nGO:0030424 "located_in axon [PMID:15479642, TaxID:10090]".nGO:0006812 "participates_in cation transport [PMID:9630217, TaxID:10090]".nGO:0022843 "has_function voltage-gated cation channel activity [PMID:9634236, TaxID:10090]".nGO:0043234 "part_of protein complex [PMID:12034718, TaxID:10090]".nGO:0009986 "located_in cell surface [PMID:15564593, TaxID:10090]".
pro
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
GO:0006812
http://purl.org/obo/owl/GO#GO_0006812
GO:0022843
http://purl.org/obo/owl/GO#GO_0022843
GO:0005261
http://purl.org/obo/owl/GO#GO_0005261
GO:0030424
http://purl.org/obo/owl/GO#GO_0030424
A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 that is a translation product of a processed transcript of the HCN1 gene encoding all core domains. Represented by the mouse sequence UniProtKB:O88704-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 isoform 1
GO:0005222 "contributes_to_function intracellular cAMP activated cation channel activity [PMID:11459060, TaxID:10090]".nGO:0009986 "located_in cell surface [PMID:12034718, TaxID:10090; PMID:15564593, TaxID:10090]".nGO:0043234 "protein complex [PMID:12034718, TaxID:10090]".
pro
<new synonym>
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 isoform 1
A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 that is a translation product of a processed transcript of the HCN2 gene encoding all core domains. Represented by the mouse sequence UniProtKB:O88703-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 3 isoform 1
pro
A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 that is a translation product of a processed transcript of the HCN3 gene encoding all core domains. Represented by the mouse sequence UniProtKB:O88705-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 isoform 1
GO:0005261 "has_function cation channel activity [PMID:10228147, TaxID:9606]".nGO:0006936 "participates_in muscle contraction [PMID:10228147, TaxID:9606]".nGO:0006812 "participates_in cation transport [PMID:10228147, TaxID:9606]".nGO:0005886 "located_in plasma membrane [PMID:15123648, TaxID:9986]".
pro
GO:0005886
http://purl.org/obo/owl/GO#GO_0005886
GO:0006812
http://purl.org/obo/owl/GO#GO_0006812
GO:0005261
http://purl.org/obo/owl/GO#GO_0005261
A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 that is a translation product of a processed transcript of the HCN4 gene encoding all core domains. Represented by the human sequence UniProtKB:Q9Y3Q4-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0006936
http://purl.org/obo/owl/GO#GO_0006936
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 sequence variant 1
SO:1000093 "has_agent mutation_causing_amino_acid_substitution"nMIM:163800 "agent_in SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT".nGO:0005886 "NOT located_in plasma membrane [PMID:15123648, TaxID:9986]".
pro
MIM:163800
http://purl.org/obo/owl/MIM#MIM_163800
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 that is a translation product of the a polymorphic sequence variant of HCN4 gene that has an Asn residue at the position equivalent to Asp-553 in the human sequence UniProtKB:Q9Y3Q4.
PMID:15123648
http://purl.org/obo/owl/PMID#PMID_15123648
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 sequence variant 2
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:163800 "agent_in SICK SINUS SYNDROME 2, AUTOSOMAL DOMINANT".nGO:0022843 "has_function (impaired) voltage-gated cation channel activity [PMID: 16407510, TaxID:9606]".nGO:0005222 "has_function intracellular cAMP activated cation channel activity [PMID: 16407510, TaxID:9606]".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 4 that is a translation product of the a polymorphic sequence variant of HCN4 gene that has an Arg residue at the position equivalent to Ser-672 in the human sequence UniProtKB:Q9Y3Q4. This residue is located in the CNBD.
PMID:16407510
http://purl.org/obo/owl/PMID#PMID_16407510
GO:0022843
http://purl.org/obo/owl/GO#GO_0022843
MIM:163800
http://purl.org/obo/owl/MIM#MIM_163800
GO:0005222
http://purl.org/obo/owl/GO#GO_0005222
small conductance calcium-activated potassium channel protein 1 isoform 1
GO:0005516 "has_function calmodulin binding [PMID:11267657, TaxID:10090]".
pro
GO:0005516
http://purl.org/obo/owl/GO#GO_0005516
A small conductance calcium-activated potassium channel protein 1 that is a translation product of a processed transcript of the KCNN1 gene, and that includes all core domains. Represented by the mouse sequence UniProtKB:Q9EQR3-1, which is produced by alternative splicing events in which various combinations of the four 5' non-coding exons A, B1, B2 or C are joined directly to exon 3.2.
UniProtKB:Q9EQR3-1
http://purl.org/obo/owl/UniProtKB#UniProtKB_Q9EQR3-1
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
small conductance calcium-activated potassium channel protein 1 isoform 2
GO:0005516 "has_function calmodulin binding [PMID:10026195, TaxID:9606]".nGO:0007268 "participates_in synaptic transmission [PMID:8781233, TaxID:9606]".
pro
A small conductance calcium-activated potassium channel protein 1 that is a translation product of a processed transcript of the KCNN1 gene, and that includes all core domains. Represented by the human sequence UniProtKB:Q92952-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005516
http://purl.org/obo/owl/GO#GO_0005516
GO:0007268
http://purl.org/obo/owl/GO#GO_0007268
small conductance calcium-activated potassium channel protein 1 isoform I
pro
A small conductance calcium-activated potassium channel protein 1 that is a translation product of a processed transcript of the KCNN1 gene, and that includes all core domains. Represented by the mouse sequence UniProtKB:Q9EQR3-2, which is produced by usage of the starting Met in exon 3.1, and includes the regions encoded by exon 7, 8, 8a and 9.
PMID:11267657
http://purl.org/obo/owl/PMID#PMID_11267657
isoform I
small conductance calcium-activated potassium channel protein 1 isoform II
GO:0005516 "has_function calmodulin binding [PMID:11267657, TaxID:10090]".
pro
A small conductance calcium-activated potassium channel protein 1 that is a translation product of a processed transcript of the KCNN1 gene, and that includes all core domains. Represented by the mouse sequence UniProtKB:Q9EQR3-9, which lacks the region encoded by exon 9, but includes exons 7, 8 and 8a.
PMID:11267657
http://purl.org/obo/owl/PMID#PMID_11267657
GO:0005516
http://purl.org/obo/owl/GO#GO_0005516
small conductance calcium-activated potassium channel protein 1 isoform III
GO:0005516 "has_function (reduced) calmodulin binding [PMID:11267657, TaxID:10090]".
pro
A small conductance calcium-activated potassium channel protein 1 that is a translation product of a processed transcript of the KCNN1 gene. It includes all core domains, but it has a distinct C-terminus. Represented by the mouse sequence UniProtKB:Q9EQR3-8, which lacks the region encoded by exons 8a, but includes exons 7 and 8 and 9.
PMID:11267657
http://purl.org/obo/owl/PMID#PMID_11267657
GO:0005516
http://purl.org/obo/owl/GO#GO_0005516
small conductance calcium-activated potassium channel protein 1 isoform IV
GO:0005516 "has_function (reduced) calmodulin binding [PMID:11267657, TaxID:10090]".
pro
GO:0005516
http://purl.org/obo/owl/GO#GO_0005516
A small conductance calcium-activated potassium channel protein 1 that is a translation product of a processed transcript of the KCNN1 gene. It includes all core domains, but it has a distinct C-terminus. Represented by the mouse sequence UniProtKB:Q9EQR3-7, which lacks the region encoded by exons 8a and 9, but includes exons 7 and 8.
PMID:11267657
http://purl.org/obo/owl/PMID#PMID_11267657
small conductance calcium-activated potassium channel protein 1 isoform V
GO:0005516 "has_function (impaired) calmodulin binding [PMID:11267657, TaxID:10090]".
pro
A small conductance calcium-activated potassium channel protein 1 that is a translation product of a processed transcript of the KCNN1 gene. The distal portion of the S6 transmembrane is modified in relation to isoform I due to the lack of an exon in the coding transcript. Represented by the mouse sequence UniProtKB:Q9EQR3-3, which lacks the region encoded by exon 7, but includes exons 8, 8a and 9.
PMID:11267657
http://purl.org/obo/owl/PMID#PMID_11267657
GO:0005516
http://purl.org/obo/owl/GO#GO_0005516
small conductance calcium-activated potassium channel protein 1 isoform VI
GO:0005516 "has_function (impaired) calmodulin binding [PMID:11267657, TaxID:10090]".
pro
GO:0005516
http://purl.org/obo/owl/GO#GO_0005516
A small conductance calcium-activated potassium channel protein 1 that is a translation product of a processed transcript of the KCNN1 gene, and that includes all core domains. Represented by the mouse sequence UniProtKB:Q9EQR3-4, which lacks the region encoded by exons 7 and 9, but includes exons 8 and 8a.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:11267657
http://purl.org/obo/owl/PMID#PMID_11267657
small conductance calcium-activated potassium channel protein 1 isoform VII
GO:0005516 "has_function (impaired) calmodulin binding [PMID:11267657, TaxID:10090]".
pro
GO:0005516
http://purl.org/obo/owl/GO#GO_0005516
A small conductance calcium-activated potassium channel protein 1 that is a translation product of a processed transcript of the KCNN1 gene, and that includes all core domains. Represented by the mouse sequence UniProtKB:Q9EQR3-5, which lacks the region encoded by exons 7 and 8a, but includes exons 8 and 9.
PMID:11267657
http://purl.org/obo/owl/PMID#PMID_11267657
small conductance calcium-activated potassium channel protein 1 isoform VIII
GO:0005516 "has_function (impaired) calmodulin binding [PMID:11267657, TaxID:10090]".
pro
A small conductance calcium-activated potassium channel protein 1 that is a translation product of a processed transcript of the KCNN1 gene, and that includes all core domains. Represented by the mouse sequence UniProtKB:Q9EQR3-6, which lacks the region encoded by exons 7, 8a and 9, but includes exon 8.
PMID:11267657
http://purl.org/obo/owl/PMID#PMID_11267657
GO:0005516
http://purl.org/obo/owl/GO#GO_0005516
small conductance calcium-activated potassium channel protein 2 isoform 1
GO:0009986 "located_in cell surface [PMID:11395478, TaxID:9606]".
pro
A small conductance calcium-activated potassium channel protein 2 that is a translation product of a processed transcript of the KCNN2 gene, and that includes the core domains, as in the human sequence UniProtKB:Q9H2S1-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
small conductance calcium-activated potassium channel protein 2 isoform 2
Pfam:PF03530 "NOT has_part Calcium-activated SK potassium channel domain".
pro
A small conductance calcium-activated potassium channel protein 2 that is a translation product of a processed transcript of the KCNN2 gene lacking the exons coding for the N-terminal cytoplasmic domain and most of the transmembrane segments of the calcium-activated SK potassium channel domain, as in the human sequence UniProtKB:Q6PJI0-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
small conductance calcium-activated potassium channel protein 3 isoform 1
GO:0009986 "located_in cell surface [PMID:11395478, TaxID:9606]".
pro
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
A small conductance calcium-activated potassium channel protein 3 that is a translation product of a processed transcript of the KCNN3 gene, and that includes all core domains, as in sequence UniProtKB:Q9UGI6-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
small conductance calcium-activated potassium channel protein 3 variant 1
SO:1000098 "has_agent mutation_causing_polypeptide_truncation".nGO:0005634 "located_in nucleus [PMID:11395478, TaxID:9606]".nGO:0015269 "NOT has_function calcium-activated potassium channel activity [PMID:11395478, TaxID:9606]".
pro
A small conductance calcium-activated potassium channel protein 3 that is a translation product of the KCNN3 gene with a four base deletion causing a frameshift that leads to early termination. The truncated protein lacks the transmembrane and the calmodulin binding domains. However, it conserves the two glutamine rich domains.
PMID:11395478
http://purl.org/obo/owl/PMID#PMID_11395478
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
SO:1000098
http://purl.org/obo/owl/SO#SO_1000098
transient receptor potential cation channel TRPC3
pro
Short transient receptor potential channel 3
A transient receptor potential cation channel TRPC3/6/7 that is a translation product of the TRPC3 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
transient receptor potential cation channel TRPV5
MGI:2429764.nGO:0005262 "has_function calcium channel activity {PMID:15665527, TaxID:10090]".nGO:0005515 "has_function protein binding [PMID:15355307, TaxID:10090]".nGO:0016324 "located_in apical plasma membrane [PMID:12205031, TaxID:10090]".nGO:0006816 "participates_in calcium ion transport [PMID:15665527, TaxID:10090]".nGO:0051262 "participates_in protein tetramerization [PMID:12574114, TaxID:10090]".
pro
GO:0051262
http://purl.org/obo/owl/GO#GO_0051262
GO:0016324
http://purl.org/obo/owl/GO#GO_0016324
GO:0006816
http://purl.org/obo/owl/GO#GO_0006816
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
A calcium-selective transient receptor potential cation channel TRPV that is a translation product of the TRPV5 gene.
PRO:HJD
http://purl.org/obo/owl/PRO#PRO_HJD
GO:0005262
http://purl.org/obo/owl/GO#GO_0005262
transient receptor potential cation channel TRPV6
MGI:1927259.nGO:0005262 "has_function calcium channel activity [PMID:12077127, TaxID:100990]".nGO:0006816 "participates_in calcium ion transport [PMID:12077127, TaxID:100990]".
pro
GO:0006816
http://purl.org/obo/owl/GO#GO_0006816
GO:0005262
http://purl.org/obo/owl/GO#GO_0005262
A calcium-selective transient receptor potential cation channel TRPV that is a translation product of the TRPV6 gene.
PRO:HJD
http://purl.org/obo/owl/PRO#PRO_HJD
voltage-gated potassium channel KCNA4 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A voltage-gated potassium channel KCNC1 isoform 1 that has been post-translationally modified to include phosphorylated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNB1 isoform 1
pro
A voltage-gated potassium channel KCNB1 that is a translation product of a processed transcript of the KCNB1 gene represented by the human sequence UniProtKB:Q14721-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNB2 isoform 1
GO:0005251 "contributes_to_function delayed rectifier potassium channel activity [PMID:9612272, TaxID:9606]".nGO:0006940 "participates_in regulation of smooth muscle contraction [PMID:9612272, TaxID:9606]".
pro
A voltage-gated potassium channel KCNB2 that is a translation product of a processed transcript of the KCNB2 gene represented by the human sequence UniProtKB:Q92953-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0006940
http://purl.org/obo/owl/GO#GO_0006940
voltage-gated potassium channel KCNC1
pro
A shaw-related voltage-gated potassium channel, alpha subunit that is translation product of the KCNC1 gene. They contain an ATM motif at the C-terminus, following the S6 segment that allows interaction with axonal targeting machinery when exposed.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
KV3.1
NGK2
Potassium voltage-gated channel subfamily C member 1
voltage-gated potassium channel subunit Kv3.1
voltage-gated potassium channel KCNC2
pro
A shaw-related voltage-gated potassium channel, alpha subunit that is translation product of the KCNC2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNC4
pro
KSHIIIC
Kv3.4
GO:0007268
http://purl.org/obo/owl/GO#GO_0007268
Potassium voltage-gated channel subfamily C member 4
A shaw-related voltage-gated potassium channel, alpha subunit that is translation product of the KCNC4.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCND1
pro
PANTHER:PTHR11537:SF15
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR11537:SF15
KV4.1
A shal-related voltage-gated potassium channel that is a translation product of the KCND1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Potassium voltage-gated channel subfamily D member 1
voltage-gated potassium channel KCND2
pro
A shal-related voltage-gated potassium channel that is a translation product of the KCND2 gene. Kv4.2 potassium channels play a critical role in postsynaptic excitability. They are modulated by phosphorylation as well as by association with Kv4 Channel Interacting Proteins (KChIPs). The N-terminus contains an ER retention motif RKR that seems to be masked when associated to KChiPs. This masking increases surface expression.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:12829703
http://purl.org/obo/owl/PMID#PMID_12829703
KV4.2
Potassium voltage-gated channel subfamily D member 2
voltage-gated potassium channel KCND3
pro
Potassium voltage-gated channel subfamily D member 3
KV4.3
A shal-related voltage-gated potassium channel that is a translation product of the KCND3 gene. These subunits form homotetramers or heterotetramers with KCND1 and/or KCND2. Associates with the regulatory subunits KCNIP1, KCNIP2, KCNIP3 and KCNIP4.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNG1
pro
Potassium voltage-gated channel subfamily G member 1
A modulatory voltage-gated potassium channel subunit KCNG that is a translation product of the KCNG1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
KV6.1
voltage-gated potassium channel KCNG3
pro
A modulatory voltage-gated potassium channel subunit KCNG that is a translation product of the KCNG3 gene. It has to be associated with Kv2 subunits (PRO:000000677) or possibly another partner to get inserted in the plasma membrane. Remains intracellular in the absence of KCNB1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Voltage-gated potassium channel subunit Kv6.3
KV10.1
voltage-gated potassium channel KCNG4
pro
Voltage-gated potassium channel subunit Kv6.4
Potassium voltage-gated channel subfamily G member 4
A modulatory voltage-gated potassium channel subunit KCNG that is a translation product of the KCNG4 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNH1
pro
Potassium voltage-gated channel subfamily H member 1
A voltage-gated potassium channel Eag, alpha subunit that is a translation product of the KHCN1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Eag1
voltage-gated potassium channel KCNH2
GO:0006936 "participates_in muscle contraction [PMID:7736582, TaxID:9606]".nGO:0008016 "participates_in regulation of heart contraction [PMID:7736582, TaxID:9606]".
pro
potassium voltage-gated channel subfamily H member 2
ether-a-go-go-related gene protein 1
A voltage-gated potassium channel Erg, alpha subunit that is a translation product of the KHCN2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0006936
http://purl.org/obo/owl/GO#GO_0006936
potassium channel subunit Kv11.1
GO:0008016
http://purl.org/obo/owl/GO#GO_0008016
voltage-gated potassium channel KCNH3
pro
Elk2
kv12.2
Potassium voltage-gated channel subfamily H member 3
A voltage-gated potassium channel Elk, alpha subunit that is a translation product of the KHCN3 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNH4
pro
A voltage-gated potassium channel Elk, alpha subunit that is a translation product of the KHCN4 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
potassium voltage-gated channel subfamily H member 4
voltage-gated potassium channel KCNH5
GO:0008076 "part_of voltage-gated potassium channel complex [PMID:9738473, TaxID:9606; PMID:11943152, TaxID:9606] with KCNH1 (PRO:000000955)".
pro
A voltage-gated potassium channel Eag, alpha subunit that is a translation product of the KHCN5 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Potassium voltage-gated channel subfamily H member 5
Eag2
voltage-gated potassium channel KCNH6
pro
Ether-a-go-go-related gene potassium channel 2
Erg2
A voltage-gated potassium channel Erg, alpha subunit that is a translation product of the KHCN6 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Kv11.2
voltage-gated potassium channel KCNH7
pro
Voltage-gated potassium channel subunit Kv11.3
Eag-related protein 3
HERG-3
A voltage-gated potassium channel Erg, alpha subunit that is a translation product of the KHCN7 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNH8
GO:0005249 "contributes_to_function voltage-gated potassium channel activity [PMID:12890647, TaxID:9606]".
pro
A voltage-gated potassium channel Elk, alpha subunit that is a translation product of the KHCN8 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Potassium voltage-gated channel subfamily H member 8
voltage-gated potassium channel KCNS1
pro
KV9.1
A modulatory voltage-gated potassium channel subunit KCNS that is a translation product of the KCNS1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Delayed-rectifier K(+) channel alpha subunit 1
Potassium voltage-gated channel subfamily S member 1
voltage-gated potassium channel KCNS2
pro
Voltage-gated potassium channel subunit Kv9.2
Delayed-rectifier K(+) channel alpha subunit 2
KV9.2
Potassium voltage-gated channel subfamily S member 2
A modulatory voltage-gated potassium channel subunit KCNS that is a translation product of the KCNS2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNS3
pro
Voltage-gated potassium channel subunit Kv9.3
KV9.3
Delayed-rectifier K(+) channel alpha subunit 3
A modulatory voltage-gated potassium channel subunit KCNS that is a translation product of the KCNS3 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Potassium voltage-gated channel subfamily S member 3
voltage-gated potassium channel KCNV1 isoform 1
pro
A voltage-gated potassium channel subunit KCNV1 that is a translation product of a processed transcript of the KCNV1 gene, and that includes the potassium channel alpha subunit core domains, and the atypical S6 segment.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNV2 isoform 1
pro
A voltage-gated potassium channel KCNV2 that is a translation product of a processed transcript of the KCNV2 gene, and that contains the core domains, as in the human sequence UniProtKB:Q8TDN2-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNV2 sequence variant 1
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:16909397, TaxID:9606]".nMIM:610356 "agent_in RETINAL CONE DYSTROPHY 3B".
pro
A voltage-gated potassium channel KCNV2 that is a translation product of a polymorphic sequence variant of the KCNV2 gene that has a Asp residue at the position equivalent to Gly-459 in the human sequence UniProtKB:Q8TDN2. This residue is located in the loop connecting segments S5 and S6.
PMID:16909397
http://purl.org/obo/owl/PMID#PMID_16909397
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:610356
http://purl.org/obo/owl/MIM#MIM_610356
voltage-gated potassium channel KCNV2 sequence variant 2
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:16909397, TaxID:9606]".nMIM:610356 "agent_in RETINAL CONE DYSTROPHY 3B".
pro
MIM:610356
http://purl.org/obo/owl/MIM#MIM_610356
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel KCNV2 that is a translation product of a polymorphic sequence variant of the KCNV2 gene that has a Val residue at the position equivalent to Ala-259 in the human sequence UniProtKB:Q8TDN2. This residue is located in the loop connecting segments S1 and S2.
PMID:16909397
http://purl.org/obo/owl/PMID#PMID_16909397
voltage-gated potassium channel KCNV2 sequence variant 3
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:16909397, TaxID:9606]".nMIM:610356 "agent_in RETINAL CONE DYSTROPHY 3B".
pro
A voltage-gated potassium channel KCNV2 that is a translation product of a polymorphic sequence variant of the KCNV2 gene that has a Gln residue at the position equivalent to Leu-126 in the human sequence UniProtKB:Q8TDN2. This residue is located in the cytoplasmic N-terminus.
PMID:16909397
http://purl.org/obo/owl/PMID#PMID_16909397
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:610356
http://purl.org/obo/owl/MIM#MIM_610356
voltage-gated potassium channel KCNV2 sequence variant 4
SO:1000097 "has_agent mutation_causing_amino_acid_deletion [PMID:16909397, TaxID:9606]".nMIM:610356 "agent_in RETINAL CONE DYSTROPHY 3B".
pro
MIM:610356
http://purl.org/obo/owl/MIM#MIM_610356
A voltage-gated potassium channel KCNV2 that is a translation product of a sequence variant of the KCNV2 gene that has a deletion of the region corresponding to residues 339 to 341 in the human sequence UniProtKB:Q8TDN2. This residues are part of segment S3.
PMID:16909397
http://purl.org/obo/owl/PMID#PMID_16909397
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
voltage-gated potassium channel KCNV2 sequence variant 5
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:16909397, TaxID:9606]".nMIM:610356 "agent_in RETINAL CONE DYSTROPHY 3B".
pro
MIM:610356
http://purl.org/obo/owl/MIM#MIM_610356
A voltage-gated potassium channel KCNV2 that is a translation product of a polymorphic sequence variant of the KCNV2 gene that has a Trp residue at the position equivalent to Ser-256 in sequence UniProtKB:Q8TDN2. This residue is located in the loop connecting segments S1 and S2.
PMID:16909397
http://purl.org/obo/owl/PMID#PMID_16909397
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel KCNV2 sequence variant 6
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:16909397, TaxID:9606]".nMIM:610356 "agent_in RETINAL CONE DYSTROPHY 3B".
pro
MIM:610356
http://purl.org/obo/owl/MIM#MIM_610356
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel KCNV2 that is a translation product of a polymorphic sequence variant of the KCNV2 gene that has a Cys residue at the position equivalent to Trp-188 in sequence UniProtKB:Q8TDN2. This residue is located in the loop connecting segments S1 and S2.
PMID:16909397
http://purl.org/obo/owl/PMID#PMID_16909397
voltage-gated potassium channel subunit KCNA10
pro
A voltage-gated potassium channel alpha subunit that is a translation product of the KCNA10 gene. It is a subunit of the Kv1.8 channel is a delayed rectifier channel that may be involved in regulating the tone of renal vascular smooth muscle and may also participate in the cardiac action potential. It is regulated by cGMP and postulated to mediate the effects of substances that increase intracellular cGMP. It can coassemble with other Kv1 subunits.
PMID:10836990
http://purl.org/obo/owl/PMID#PMID_10836990
Potassium voltage-gated channel subfamily A member 10
Kv1.8
voltage-gated potassium channel subunit KCNA2
pro
A voltage-gated potassium channel alpha subunit that is a translation product of the KCNA2 gene. The Kv1.2 channel is involved in maintaining membrane potential, modulating electrical excitability in neurons and muscle. It can coassemble with other Kv1 subunits.
PMID:16382104
http://purl.org/obo/owl/PMID#PMID_16382104
Potassium voltage-gated channel subfamily A member 2
Kv1.2
voltage-gated potassium channel subunit KCNA3
pro
A voltage-gated potassium channel alpha subunit that is a translation product of the KCNA3 gene. The Kv1.3 channel is involved in maintaining membrane potential and calcium signaling in lymphocytes and oligodendrocytes. It can coassemble with other Kv1 subunits.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Potassium voltage-gated channel subfamily A member 3
Kv1.3
voltage-gated potassium channel subunit KCNA5
pro
HPCN1
A voltage-gated potassium channel alpha subunit that is a translation product of the KCNA5 gene. The voltage-gated potassium channel Kv1.5 mediates the ultrarapid-activating potassium current (IKur) in heart, and also plays a critical role in the regulation of arterial tone.
PMID:18344374
http://purl.org/obo/owl/PMID#PMID_18344374
PMID:16772329
http://purl.org/obo/owl/PMID#PMID_16772329
PMID:10575199
http://purl.org/obo/owl/PMID#PMID_10575199
Kv1.5
Potassium voltage-gated channel subfamily A member 5
PANTHER:PANTHER:PTHR11537:SF25
http://purl.org/obo/owl/PANTHER#PANTHER_PANTHER:PTHR11537:SF25
voltage-gated potassium channel subunit KCNA6
pro
Potassium voltage-gated channel subfamily A member 6
A voltage-gated potassium channel alpha subunit that is a translation product of the KCNA6 gene. The Kv1.6 channel is Regulator of membrane potential in neurons. The N terminus contains an N terminus inactivation prevention domain. It can coassemble with other Kv1 subunits.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNA7
pro
Kv1.7
Potassium voltage-gated channel subfamily A member 7
A voltage-gated potassium channel alpha subunit that is a translation product of the KCNA7 gene. The Kv1.7 channel has properties similar to the ultrarapidly activating IKur current in the heart. It can coassemble with other Kv1 subunits.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNQ1 isoform 1
GO:0005251 "contributes_to_function delayed rectifier potassium channel activity [PMID:9312006, TaxID:9606]".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a processed transcript of the KCNQ1 gene, that includes the core domains, as in the human sequence UniProtKB:P51787-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNQ1 isoform 2
GO:0043267 "contributes_to_function negative regulation of potassium ion transport [PMID:9305853, TaxID:9606]".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a processed transcript of the KCNQ1 gene, that lacks the N-terminal cytoplasmic domain and the initial one-third of the first transmembrane domain, as in the human sequence UniProtKB:P51787-2. This form is not able to generate channels by itself, but can form a channel when associated with KCNE4 or the isoform 1 (PRO:000000815).
PMID:9305853
http://purl.org/obo/owl/PMID#PMID_9305853
atKvLQT1
voltage-gated potassium channel subunit KCNQ1 sequence variant 1
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:192500 "agent_in LONG QT SYNDROME 1 [PMID:10024302, TaxID:9606]".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Met residue at the position equivalent to Thr-587 in the human sequence UniProtKB:P51787.
PMID:10024302
http://purl.org/obo/owl/PMID#PMID_10024302
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 10
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Pro residue at the position equivalent to Ser-373 in the human sequence UniProtKB:P51787.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 11
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:192500 "agent_in LONG QT SYNDROME 1".nGO:0005251 "has_function (impaired) delayed rectifier potassium channel activity [PMID:10409658, TaxID:9606]".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Cys residue at the position equivalent to Arg-243 in the human sequence UniProtKB:P51787.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005251
http://purl.org/obo/owl/GO#GO_0005251
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 12
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9302275, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Asn residue at the position equivalent to Asp-317 in the human sequence UniProtKB:P51787.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNQ1 sequence variant 13
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has an Ile residue at the position equivalent to Val-310 in the human sequence UniProtKB:P51787.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 14
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has an Phe residue at the position equivalent to Ser-566 in the human sequence UniProtKB:P51787.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 15
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Cys residue at the position equivalent to Tyr-315 in the human sequence UniProtKB:P51787.
PMID:9927399
http://purl.org/obo/owl/PMID#PMID_9927399
voltage-gated potassium channel subunit KCNQ1 sequence variant 16
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Leu residue at the position equivalent to Ser-225 in the human sequence UniProtKB:P51787.
PMID:9927399
http://purl.org/obo/owl/PMID#PMID_9927399
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 17
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9024139, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".nGO:0005251 "NOT contributes_to_function delayed rectifier potassium channel activity [PMID:9323054, TaxID:9606]".nSO:1000118 "has_agent mutation_causing_loss_of_function_of_polypeptide [PMID:9323054, TaxID:9606]".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Pro residue at the position equivalent to Ala-178 in the human sequence UniProtKB:P51787. This residue is located in the loop connecting segments S2 and S3.
PMID:9323054
http://purl.org/obo/owl/PMID#PMID_9323054
SO:1000118
http://purl.org/obo/owl/SO#SO_1000118
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 18
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9024139, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Thr residue at the position equivalent to Ala-178 in the human sequence UniProtKB:P51787. This residue is located in the loop connecting segments S2 and S3.
PMID:9024139
http://purl.org/obo/owl/PMID#PMID_9024139
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 19
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10220144, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has an Arg residue at the position equivalent to Gly-189 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic loop connecting S2-S3.
PMID:10220144
http://purl.org/obo/owl/PMID#PMID_10220144
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 2
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Arg residue at the position equivalent to Pro-448 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus.
UniProtKB:VAR_009931
http://purl.org/obo/owl/UniProtKB#UniProtKB_VAR_009931
voltage-gated potassium channel subunit KCNQ1 sequence variant 20
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has an Arg residue at the position equivalent to Thr-309 in the human sequence UniProtKB:P51787. This mutation is located in the pore region between segments S5 and S6.
UniProtKB:VAR_001529.
http://purl.org/obo/owl/UniProtKB#UniProtKB_VAR_001529.
voltage-gated potassium channel subunit KCNQ1 sequence variant 21
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a His residue at the position equivalent to Arg-591 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus.
PMID:10024302
http://purl.org/obo/owl/PMID#PMID_10024302
voltage-gated potassium channel subunit KCNQ1 sequence variant 22
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9693036, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Trp residue at the position equivalent to Arg-366 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus.
PMID:9693036
http://purl.org/obo/owl/PMID#PMID_9693036
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 23
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9024139, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Met residue at the position equivalent to Ile-313 in the human sequence UniProtKB:P51787. This mutation is located in the pore region between segments S5 and S6.
PMID:9024139
http://purl.org/obo/owl/PMID#PMID_9024139
voltage-gated potassium channel subunit KCNQ1 sequence variant 24
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Cys residue at the position equivalent to Tyr-111 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic N-terminus.
UniProtKB:VAR_009918
http://purl.org/obo/owl/UniProtKB#UniProtKB_VAR_009918
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 25
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10728423, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".nGO:0005251 "has_function (impaired) delayed rectifier potassium channel activity [PMID:10728423, TaxID:9606]".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Trp residue at the position equivalent to Arg-533 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus.
PMID:10728423
http://purl.org/obo/owl/PMID#PMID_10728423
GO:0005251
http://purl.org/obo/owl/GO#GO_0005251
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 26
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9693036, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has an Arg residue at the position equivalent to Gly-168 in the human sequence UniProtKB:P51787. This residue is located at the end of segment S2.
PMID:9693036
http://purl.org/obo/owl/PMID#PMID_9693036
voltage-gated potassium channel subunit KCNQ1 sequence variant 27
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:220400 "agent_in JERVELL AND LANGE-NIELSEN SYNDROME".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:220400
http://purl.org/obo/owl/MIM#MIM_220400
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has an Asp residue at the position equivalent to Glu-261 in the human sequence UniProtKB:P51787. This residue is located at the end of the intracellular loop connecting segments S4 and S5.
UniProtKB:VAR_008944
http://purl.org/obo/owl/UniProtKB#UniProtKB_VAR_008944
voltage-gated potassium channel subunit KCNQ1 sequence variant 28
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Thr residue at the position equivalent to Ala-371 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus.
UniProtKB:VAR_001544
http://purl.org/obo/owl/UniProtKB#UniProtKB_VAR_001544
voltage-gated potassium channel subunit KCNQ1 sequence variant 29
SO:1000097 "has_agent mutation_causing_amino_acid_deletion".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a sequence variant of the KCNQ1 gene that includes the deletion of the region coding for residues 71 to 73 in the human sequence UniProtKB:P51787.
UniProtKB:VAR_009917
http://purl.org/obo/owl/UniProtKB#UniProtKB_VAR_009917
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
voltage-gated potassium channel subunit KCNQ1 sequence variant 3
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:8872472, TaxID:9606; PMID:8818942, TaxID:9606; PMID:9570196, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Val residue at the position equivalent to Ala-341 in the human sequence UniProtKB:P51787. This residue is located within the S6 segment.
PMID:8872472
http://purl.org/obo/owl/PMID#PMID_8872472
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 30
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a His residue at the position equivalent to Leu-250 in the human sequence UniProtKB:P51787.
UniProtKB:VAR_008943
http://purl.org/obo/owl/UniProtKB#UniProtKB_VAR_008943
voltage-gated potassium channel subunit KCNQ1 sequence variant 31
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Trp residue at the position equivalent tonSer-349 in the human sequence UniProtKB:P51787.
UniProtKB:VAR_009928
http://purl.org/obo/owl/UniProtKB#UniProtKB_VAR_009928
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 32
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Ile residue at the position equivalent to Thr-391 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 33
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9693036, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Asn residue at the position equivalent to Lys-318 in the human sequence UniProtKB:P51787. This mutation is located in the pore region between segments S5 and S6.
PMID:9693036
http://purl.org/obo/owl/PMID#PMID_9693036
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 34
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Val residue at the position equivalent to Ala-344 in the human sequence UniProtKB:P51787.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
voltage-gated potassium channel subunit KCNQ1 sequence variant 35
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10482963, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Thr residue at the position equivalent to Ala-525 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus.
PMID:10482963
http://purl.org/obo/owl/PMID#PMID_10482963
voltage-gated potassium channel subunit KCNQ1 sequence variant 36
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Glu residue at the position equivalent to Ala-341 in the human sequence UniProtKB:P51787.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 37
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Cys residue at the position equivalent to Arg-583 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
voltage-gated potassium channel subunit KCNQ1 sequence variant 38
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Asn residue at the position equivalent to Asp-242 in the human sequence UniProtKB:P51787. This residue is located within the segment S2.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
voltage-gated potassium channel subunit KCNQ1 sequence variant 39
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Phe residue at the position equivalent to Leu-342 in the human sequence UniProtKB:P51787. This residue is located within the segment S6.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
voltage-gated potassium channel subunit KCNQ1 sequence variant 4
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Arg residue at the position equivalent to Gly-306 in the human sequence UniProtKB:P51787. This mutation is located in the pore region between segments S5 and S6.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 40
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:12522251, TaxID:9606]".nSO:1000125 "has_agent mutation_causing_gain_of_function_of_polypeptide [PMID:12522251, TaxID:9606]".nMIM:607554 "agent_in ATRIAL FIBRILLATION, FAMILIAL, 3".nGO:0005267 "has_function (enhanced) potassium channel activity [PMID:12522251, TaxID:9606]".
pro
MIM:607554
http://purl.org/obo/owl/MIM#MIM_607554
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Gly residue at the position equivalent to Ser-140 in the human sequence UniProtKB:P51787. This residue is located in the segment S1.
PMID:12522251
http://purl.org/obo/owl/PMID#PMID_12522251
GO:0005267
http://purl.org/obo/owl/GO#GO_0005267
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
SO:1000125
http://purl.org/obo/owl/SO#SO_1000125
voltage-gated potassium channel subunit KCNQ1 sequence variant 41
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Ser residue at the position equivalent to Gly-269 in the human sequence UniProtKB:P51787. This residue is located within segment S5.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
voltage-gated potassium channel subunit KCNQ1 sequence variant 42
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9386136, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Cys residue at the position equivalent to Arg-555 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 43
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10728423, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".nGO:0005251 "has_function (impaired) delayed rectifier potassium channel activity [PMID:10728423, TaxID:9606]".nGO:0008076 "part_of (impaired) voltage-gated potassium channel complex [PMID:10728423, TaxID:9606]".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Trp residue at the position equivalent to Arg-539 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus. This amino acid change affects the interaction with other channel subunits.
PMID:10728423
http://purl.org/obo/owl/PMID#PMID_10728423
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
GO:0005251
http://purl.org/obo/owl/GO#GO_0005251
voltage-gated potassium channel subunit KCNQ1 sequence variant 44
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10220144, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Ser residue at the position equivalent to Tyr-315 in the human sequence UniProtKB:P51787. This mutation is located in the pore region between segments S5 and S6.
PMID:10220144
http://purl.org/obo/owl/PMID#PMID_10220144
voltage-gated potassium channel subunit KCNQ1 sequence variant 45
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10367071, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a His residue at the position equivalent to Arg-174 in the human sequence UniProtKB:P51787. This residue is located in the loop between segments S2 and S3.
PMID:10367071
http://purl.org/obo/owl/PMID#PMID_10367071
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 46
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Pro residue at the position equivalent to Ala-194 in the human sequence UniProtKB:P51787. This residue is located in the loop between segments S2 and S3.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
voltage-gated potassium channel subunit KCNQ1 sequence variant 47
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10220144, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Ser residue at the position equivalent to Tyr-184 in the human sequence UniProtKB:P51787. This residue is located in the loop between segments S2 and S3.
PMID:10220144
http://purl.org/obo/owl/PMID#PMID_10220144
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 48
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Glu residue at the position equivalent to Gly-345 in the human sequence UniProtKB:P51787. This residue is located within segment S6.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 49
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10728423, TaxID:9606]".nSO:1000118 "has_agent mutation_causing_loss_of_function_of_polypeptide".nMIM:192500 "agent_in LONG QT SYNDROME 1".nGO:0005251 "NOT contributes_to_function delayed rectifier potassium channel activity [PMID:10728423, TaxID:9606]".nGO:0008076 "NOT part_of voltage-gated potassium channel complex [PMID:10728423, TaxID:9606]".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Gln residue at the position equivalent to Arg-190 in the human sequence UniProtKB:P51787.
PMID:10728423
http://purl.org/obo/owl/PMID#PMID_10728423
SO:1000118
http://purl.org/obo/owl/SO#SO_1000118
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 5
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9482580, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Ile residue at the position equivalent to Thr-311 in the human sequence UniProtKB:P51787. This mutation is located in the pore region between segments S5 and S6.
PMID:9482580
http://purl.org/obo/owl/PMID#PMID_9482580
voltage-gated potassium channel subunit KCNQ1 sequence variant 50
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9693036, TaxID:9606; PMID:8872472, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Ser residue at the position equivalent to Gly-314 in the human sequence UniProtKB:P51787. This mutation is located in the pore region between segments S5 and S6.
PMID:9693036
http://purl.org/obo/owl/PMID#PMID_9693036
voltage-gated potassium channel subunit KCNQ1 sequence variant 51
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10409658, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".nGO:0005251 "contributes_to_function (impaired) delayed rectifier potassium channel activity [PMID:10409658, TaxID:9606]".nGO:0008076 "part_of (impaired) voltage-gated potassium channel complex [PMID:10728423, TaxID:9606]".nSO:1000124 "has_agent mutation_causing_partial_loss_of_function_of_polypeptide".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000124
http://purl.org/obo/owl/SO#SO_1000124
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Arg residue at the position equivalent to Trp-248 in the human sequence UniProtKB:P51787. This residue is located within segment S4. This amino acid change affects the interaction with other channel subunits.
PMID:10409658
http://purl.org/obo/owl/PMID#PMID_10409658
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 52
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9024139, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Pro residue at the position equivalent to Arg-366 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus.
PMID:9024139
http://purl.org/obo/owl/PMID#PMID_9024139
voltage-gated potassium channel subunit KCNQ1 sequence variant 53
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Gln residue at the position equivalent to Arg-366 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
voltage-gated potassium channel subunit KCNQ1 sequence variant 54
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Lys residue at the position equivalent to Glu-160 in the human sequence UniProtKB:P51787. This residue is located within the segment S2.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
voltage-gated potassium channel subunit KCNQ1 sequence variant 55
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Met residue at the position equivalent to Val-254 in the human sequence UniProtKB:P51787.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
voltage-gated potassium channel subunit KCNQ1 sequence variant 56
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10220144, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Arg residue at the position equivalent to Gly-345 in the human sequence UniProtKB:P51787. This residue is located within segment S6.
PMID:10220144
http://purl.org/obo/owl/PMID#PMID_10220144
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 57
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10409658, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".nGO:0005251 "NOT contributes_to_function delayed rectifier potassium channel activity [PMID:8900283, TaxID:9606]".nGO:0008076 "NOT part_of voltage-gated potassium channel complex [PMID:8900283, TaxID:9606]".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Lys residue at the position equivalent to Glu-261 in the human sequence UniProtKB:P51787. This residue is located at the end of the intracellular loop connecting segments S4 and S5.
PMID:10409658
http://purl.org/obo/owl/PMID#PMID_10409658
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 58
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:15159330, TaxID:9606]".nMIM:609621 "agent_in SHORT QT SYNDROME 2".nSO:1000125 "has_agent mutation_causing_gain_of_function_of_polypeptide [PMID:15159330, TaxID:9606]".nGO:0005267 "has_function (enhanced) potassium channel activity [PMID:15159330, TaxID:9606]".
pro
SO:1000125
http://purl.org/obo/owl/SO#SO_1000125
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:609621
http://purl.org/obo/owl/MIM#MIM_609621
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Leu residue at the position equivalent to Val-307 in the human sequence UniProtKB:P51787. This mutation is located in the pore region between segments S5 and S6.
PMID:15159330
http://purl.org/obo/owl/PMID#PMID_15159330
GO:0005267
http://purl.org/obo/owl/GO#GO_0005267
voltage-gated potassium channel subunit KCNQ1 sequence variant 59
SO:1000097 "has_agent mutation_causing_amino_acid_deletion [PMID:9702906, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
deltaF339
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000097
http://purl.org/obo/owl/SO#SO_1000097
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a sequence variant of the KCNQ1 gene that lacks a Phe residue at the position equivalent to Phe-339 in the human sequence UniProtKB:P51787. This residue is located within segment S6.
PMID:9702906
http://purl.org/obo/owl/PMID#PMID_9702906
voltage-gated potassium channel subunit KCNQ1 sequence variant 6
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10728423, TaxID:9606]".nMIM:220400 "agent_in JERVELL AND LANGE-NIELSEN SYNDROME".nGO:0008076 "part_of voltage-gated potassium channel complex [PMID:10728423, TaxID:9606]".nGO:0005251 "contributes_to_function (impaired) delayed rectifier potassium channel activity [PMID:10728423, TaxID:9606]".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a His residue at the position equivalent to Arg-243 in the human sequence UniProtKB:P51787. This residue is located in segment S4.
PMID:10728423
http://purl.org/obo/owl/PMID#PMID_10728423
MIM:220400
http://purl.org/obo/owl/MIM#MIM_220400
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 60
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10728423, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Ser residue at the position equivalent to Gly-179 in the human sequence UniProtKB:P51787. This residue is located in the loop connecting segments S2 and S3.
PMID:10728423
http://purl.org/obo/owl/PMID#PMID_10728423
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 61
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9641694, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".nGO:0005251 "contributes_to_function delayed rectifier potassium channel activity [PMID:9641694, TaxID:9606]".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Thr residue at the position equivalent to Ala-300 in the human sequence UniProtKB:P51787. This mutation is located in the pore region between segments S5 and S6.
PMID:9641694
http://purl.org/obo/owl/PMID#PMID_9641694
voltage-gated potassium channel subunit KCNQ1 sequence variant 62
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Cys residue at the position equivalent to Arg-174 in the human sequence UniProtKB:P51787. This residue is located in the loop connecting segments S2 and S3.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 63
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9781056, TaxID:9606]".nMIM:220400 "agent_in JERVELL AND LANGE-NIELSEN SYNDROME".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Ser residue at the position equivalent to Trp-305 in the human sequence UniProtKB:P51787. This mutation is located in the pore region between segments S5 and S6.
PMID:9781056
http://purl.org/obo/owl/PMID#PMID_9781056
MIM:220400
http://purl.org/obo/owl/MIM#MIM_220400
voltage-gated potassium channel subunit KCNQ1 sequence variant 64
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Pro residue at the position equivalent to Leu-266 in the human sequence UniProtKB:P51787. This residue is located within the segment S5.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 65
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Gln residue at the position equivalent to Arg-594 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 66
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9323054, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".nSO:1000124 "has_agent mutation_causing_partial_loss_of_function_of_polypeptide [PMID:9323054, TaxID:9606]".nGO:0005251 "contributes_to_function delayed rectifier potassium channel activity [PMID:9323054, TaxID:9606]".
pro
SO:1000124
http://purl.org/obo/owl/SO#SO_1000124
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Phe residue at the position equivalent to Leu-273 in the human sequence UniProtKB:P51787. This residue is located within the segment S5.
PMID:9323054
http://purl.org/obo/owl/PMID#PMID_9323054
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 67
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9927399, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Cys residue at the position equivalent to Tyr-281 in the human sequence UniProtKB:P51787. This residue is located within segment S5.
PMID:9927399
http://purl.org/obo/owl/PMID#PMID_9927399
voltage-gated potassium channel subunit KCNQ1 sequence variant 68
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Ala residue at the position equivalent to Pro-320 in the human sequence UniProtKB:P51787. This mutation is located in the pore region between segments S5 and S6.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
voltage-gated potassium channel subunit KCNQ1 sequence variant 69
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10220146, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Cys residue at the position equivalent to Phe-157 in the human sequence UniProtKB:P51787. This residue is located within segment S2.
PMID:10220146
http://purl.org/obo/owl/PMID#PMID_10220146
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 7
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9693036, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Pro residue at the position equivalent to Leu-353 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus.
PMID:9693036
http://purl.org/obo/owl/PMID#PMID_9693036
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 70
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9024139, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Arg residue at the position equivalent to Gly-325 in the human sequence UniProtKB:P51787. This mutation is located in the pore region between segments S5 and S6.
PMID:9024139
http://purl.org/obo/owl/PMID#PMID_9024139
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 71
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10220144, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Arg residue at the position equivalent to Trp-392 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus.
PMID:10220144
http://purl.org/obo/owl/PMID#PMID_10220144
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
voltage-gated potassium channel subunit KCNQ1 sequence variant 72
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Asp residue at the position equivalent to Gly-269 in the human sequence UniProtKB:P51787. This residue is located within segment S5.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
voltage-gated potassium channel subunit KCNQ1 sequence variant 73
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Asp residue at the position equivalent to Gly-589 in the human sequence UniProtKB:P51787.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 74
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:9272155, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Arg residue at the position equivalent to Gly-216 in the human sequence UniProtKB:P51787. This residue is located within segment S2.
PMID:9272155
http://purl.org/obo/owl/PMID#PMID_9272155
voltage-gated potassium channel subunit KCNQ1 sequence variant 8
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10704188, TaxID:9606]".nMIM:192500 "agent_in LONG QT SYNDROME 1".
pro
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Met residue at the position equivalent to Val-417 in the human sequence UniProtKB:P51787. This residue is located in the cytoplasmic C-terminus.
PMID:10704188
http://purl.org/obo/owl/PMID#PMID_10704188
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ1 sequence variant 9
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10409658, TaxID:9606]".nSO:1000118 "has_agent mutation_causing_loss_of_function_of_polypeptide".nMIM:192500 "agent_in LONG QT SYNDROME 1".nGO:0005251 "NOT contributes_to_function delayed rectifier potassium channel activity [PMID:9323054, TaxID:9606]".
pro
MIM:192500
http://purl.org/obo/owl/MIM#MIM_192500
SO:1000118
http://purl.org/obo/owl/SO#SO_1000118
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ1 that is a translation product of a polymorphic sequence variant of the KCNQ1 gene that has a Ile residue at the position equivalent to Thr-312 in the human sequence UniProtKB:P51787. This mutation is located in the pore region between segments S5 and S6.
PMID:10409658
http://purl.org/obo/owl/PMID#PMID_10409658
voltage-gated potassium channel subunit KCNQ2 isoform 1
GO:0005516 "has_function calmodulin binding [PMID:12223552, TaxID:10090]".nGO:0008076 "part_of voltage-gated potassium channel complex [PMID:12223552, TaxID:10090]".nGO:0009986 "located_in cell surface [PMID:12223552, TaxID:10090]".
pro
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene. It contains all the transmembrane segments and it is characterized by presence of the region encoded by exons 8-11, exons12 and 13 both with 5 prime alternative spliced site, and the absence of the region coded by exon 15a. It includes the in-frame exon 16. This form is represented by the mouse sequence UniProtKB:Q9Z351-12. Exon nomenclature is based on PMID:11230508.
PMID:11230508
http://purl.org/obo/owl/PMID#PMID_11230508
GO:0005516
http://purl.org/obo/owl/GO#GO_0005516
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
K2KL
voltage-gated potassium channel subunit KCNQ2 isoform 10
GO:0022832 "NOT has_function voltage-gated channel activity [PMID:9666519, TaxID:10090]".
pro
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene, and contains all the transmembrane segments (S1-S6), but has a shorter and alternative C-terminus compare to isoform 1 due to the use of an alternative splice site that creates a frameshift. This renders a protein lacking the region coded by exons 7- 16. Represented by the mouse sequence UniProtKB:Q9Z351-10 with unique C-terminus sequence VSLSPC.
PMID:9666519
http://purl.org/obo/owl/PMID#PMID_9666519
MKQT2.10
voltage-gated potassium channel subunit KCNQ2 isoform 11
GO:0022832 "NOT has_function voltage-gated channel activity [PMID:9666519, TaxID:10090]".
pro
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene, and contains the transmembrane segments (S1-S5), but has a shorter and alternative C-terminus compare to isoform 1 due to the use of an alternative splice site that creates a frameshift. This renders a protein with a different sequence at the end of segment S6, and lacking the C-terminus region coded by exons 7-16. Represented by the mouse sequence UniProtKB:Q9Z351-11.
PMID:9666519
http://purl.org/obo/owl/PMID#PMID_9666519
MKQT2.11
voltage-gated potassium channel subunit KCNQ2 isoform 12
pro
MKQT2.2
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene, and contains all the transmembrane segments (S1-S6). It is characterized by the absence of exon 8,and 11, the presence of the region coded by the five prime alternative spliced exons 12-13, but has a shorter and alternative C-terminus compare to isoform 1 after exon 14. This renders a protein lacking the region coded by exons 15-16. Represented by the mouse sequence UniProtKB:Q9Z351-2, with C-terminal sequence QEPLPVQSGHEQGPPGQNQAWHKGHQGLGD.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNQ2 isoform 13
pro
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene. It contains all the transmembrane segments and it is characterized by lacking of the region encoded by exons 8, 11, an alternative exon 15, and has an alternative C-terminus compared to isoform 1. This form is represented by the mouse sequence UniProtKB:Q9Z351-3. Exon nomenclature is based on PMID:11230508.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MKQT2.3
voltage-gated potassium channel subunit KCNQ2 isoform 14
pro
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene. It contains all the transmembrane segments and it is characterized by lacking of the region encoded by exons 8, 11, 15a, and has an alternative C-terminus compared to isoform 1. This form is represented by the mouse sequence UniProtKB:Q9Z351-4. Exon nomenclature is based on PMID:11230508.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MKQT2.4
voltage-gated potassium channel subunit KCNQ2 isoform 15
pro
MKQT2.5
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene, and contains all the transmembrane segments (S1-S6). It is characterized by the absence of exon 8,and 11, the presence of the region coded by the five prime alternative spliced exons 12-13, but has a shorter and alternative C-terminus compare to isoform 1 after exon 14. This renders a protein lacking the region coded by exons 15-16. Represented by the mouse sequence UniProtKB:Q9Z351-5, with C-terminal sequence RSCDWRGVLA.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNQ2 isoform 16
pro
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene, and contains all the transmembrane segments (S1-S6). It is characterized by the absence of exon 8,and 11, the presence of the region coded by the five prime alternative spliced exons 12-13, but has a shorter and alternative C-terminus compare to isoform 1 after exon 14. This renders a protein lacking the region coded by exons 15-16. Represented by the mouse sequence UniProtKB:Q9Z351-6, with C-terminal sequence QEPLPVQSGHEQGPPGQNQAWHKGHQGLGDRCAEQGQYQLWRSLPTLLASCCFLLCFHTVCF.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MKQT2.6
voltage-gated potassium channel subunit KCNQ2 isoform 2
GO:0005249 "contributes_to_function voltage-gated potassium channel activity [PMID:11038262, TaxID:10116; PMID: 11160379, TaxID:9606]".
pro
KCNQ2L
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene. It contains all the transmembrane segments and it is characterized by presence of the region encoded by exons 8-10, exons12 and 13 both with 5 prime alternative spliced site, and the absence of the region coded by exons 11 and 15a. It includes the in-frame exon 16. This form is represented by the human sequence UniProtKB:O43526-2. Exon nomenclature is based on PMID:11230508.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNQ2 isoform 3
pro
<new synonym>
isoform C
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene. It contains all the transmembrane segments and it is characterized by presence of the region encoded by exons 9-10, exons12 and 13 both with 5 prime alternative spliced site, and the absence of the region coded by exons 8, 11 and 15a. It includes the in-frame exon 16. This form is represented by the human sequence UniProtKB:O43526-3. Exon nomenclature is based on PMID:11230508.
PMID:9430594
http://purl.org/obo/owl/PMID#PMID_9430594
voltage-gated potassium channel subunit KCNQ2 isoform 4
GO:0005251 "contributes_to_function delayed rectifier potassium channel activity [PMID:9836639, TaxID:9606]".
pro
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene. It contains all the transmembrane segments and it is characterized by presence of the region encoded by exons 8, 12 and 13 (both with the 3 prime splice site) and the absence of the region coded by exons 11 and 15a. It includes the in-frame exon 16. This form is represented by the human sequence UniProtKB:O43526-4. Exon nomenclature is based on PMID:11230508.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNQ2 isoform 5
pro
K2deltaKdeltaL
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene. It contains all the transmembrane segments and it is characterized by lacking a short exon encoding 10 amino acids roughly 50 residues COOH-terminal from S6. It contains the region encoded by exons 8, 11, 12-13 both with 5 prime alternative spliced site, and the absence of the region coded by exon 15a. It includes the in-frame exon 16. This form is represented by the human sequence UniProtKB:O43526-5. Exon nomenclature is based on PMID:11230508.
PMID:11230508
http://purl.org/obo/owl/PMID#PMID_11230508
voltage-gated potassium channel subunit KCNQ2 isoform 6
GO:0005249 "contributes_to_function (decreased) voltage-gated potassium channel activity [PMID:11572947, TaxID:9606]".
pro
HNSPC
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene, and contains all the transmembrane segments (S1-S6), but has a shorter and alternative C-terminus compare to isoform 1 due to the use of an alternative splice site that creates a frameshift. UniProtKB:O43526-6. Inclusion of isoform 6 in heteromultimers results in attenuation of potassium current. Prominent expression of isoform 6 in the developing brain may alter firing repertoires of immature neurons excitability to provide cues for proliferation rather than differentiation.
PMID:9039501
http://purl.org/obo/owl/PMID#PMID_9039501
voltage-gated potassium channel subunit KCNQ2 isoform 7
pro
MKQT2.7
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene. It contains all the transmembrane segments and it is characterized by presence of the region encoded by exon 8, and a different and shorter C-terminal sequence after exon 10 due to the usage of an alternative splice site causing a frameshift. This C-terminal region is common to isoform 8 (PRO:000000905). This form is represented by the mouse sequence UniProtKB:Q9Z351-7.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNQ2 isoform 8
pro
MKQT2.8
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene. It contains all the transmembrane segments and it is characterized by the absence of the region encoded by exon 8, and a different and shorter C-terminal sequence after exon 10 due to the usage of an alternative splice site causing a frameshift. This C-terminal region is common to isoform 7 (PRO:000000904). This form is represented by the mouse sequence UniProtKB:Q9Z351-8.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNQ2 isoform 9
GO:0022832 "NOT has_function voltage-gated channel activity [PMID:9666519, TaxID:10090]".
pro
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a processed transcript of the KCNQ2 gene, and contains all the transmembrane segments (S1-S6), but has a shorter and alternative C-terminus compare to isoform 1 due to the use of an alternative splice site that creates a frameshift. This renders a protein lacking the region coded by exons 7- 16. Represented by the mouse sequence UniProtKB:Q9Z351-9 with unique C-terminus sequence GQVRCAGH.
PMID:9666519
http://purl.org/obo/owl/PMID#PMID_9666519
MKQT2.9
voltage-gated potassium channel subunit KCNQ2 sequence variant 1
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:121200 "agent_in EPILEPSY, BENIGN NEONATAL, 1".nGO:0005249 "has_function (impaired) voltage-gated potassium channel activity [PMID:12742592, TaxID:9606]".
pro
GO:0005249
http://purl.org/obo/owl/GO#GO_0005249
MIM:121200
http://purl.org/obo/owl/MIM#MIM_121200
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a polymorphic sequence variant of the KCNQ2 gene that has a Trp residue at the position equivalent to Ser-247 in sequence UniProtKB:O43526. This mutation is located within the transmembrane S5. This form reduces the current amplitude of KCNQ2 homomeric channels in a dominant-negative manner whereas the amplitude of KCNQ2/KCNQ3 heteromers is only reduced by about 40%.
PMID:12742592
http://purl.org/obo/owl/PMID#PMID_12742592
voltage-gated potassium channel subunit KCNQ2 sequence variant 10
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:121200 "agent_in EPILEPSY, BENIGN NEONATAL, 1".
pro
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a polymorphic sequence variant of the KCNQ2 gene that has a Gln residue at the position equivalent to His-228 in sequence UniProtKB:O43526. This mutation is located in the intracellular loop between S4-S5.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:121200
http://purl.org/obo/owl/MIM#MIM_121200
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ2 sequence variant 2
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:606437 "agent_in MYOKYMIA WITH NEONATAL EPILEPSY".nGO:0005249 "has_function (impaired) voltage-gated potassium channel activity [PMID:11572947, TaxID:9606]".
pro
MIM:606437
http://purl.org/obo/owl/MIM#MIM_606437
A Potassium voltage-gated channel subfamily KQT member 2 that is a translation product of a polymorphic sequence variant of the KCNQ2 gene that has a Trp residue at the position equivalent to Arg-207 in the human sequence UniProtKB:O43526. This mutation neutralizes a charged amino acid in the S4 voltage-sensor segment of KCNQ2. This substitution leads to a shift of voltage-dependent activation of KCNQ2 and a dramatic slowing of activation upon depolarization.
PMID:11572947
http://purl.org/obo/owl/PMID#PMID_11572947
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
GO:0005249
http://purl.org/obo/owl/GO#GO_0005249
voltage-gated potassium channel subunit KCNQ2 sequence variant 3
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:121200 "agent_in EPILEPSY, BENIGN NEONATAL, 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:121200
http://purl.org/obo/owl/MIM#MIM_121200
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a polymorphic sequence variant of the KCNQ2 gene that has a Phe residue at the position equivalent to Leu-243 in sequence UniProtKB:O43526.
PMID:14534157
http://purl.org/obo/owl/PMID#PMID_14534157
voltage-gated potassium channel subunit KCNQ2 sequence variant 4
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:121200 "agent_in EPILEPSY, BENIGN NEONATAL, 1".
pro
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a polymorphic sequence variant of the KCNQ2 gene that change of one of the innermost Arg residues of the key functional voltage sensor (S4) region. Example: Trp residue at the position equivalent to Arg-214 in the human sequence UniProtKB:O43526.
PMID:11175290
http://purl.org/obo/owl/PMID#PMID_11175290
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:121200
http://purl.org/obo/owl/MIM#MIM_121200
voltage-gated potassium channel subunit KCNQ2 sequence variant 5
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:121200 "agent_in EPILEPSY, BENIGN NEONATAL, 1".nGO:0009986 "located_in cell surface [PMID:10788442, TaxID:9606]".
pro
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a polymorphic sequence variant of the KCNQ2 gene that has a Cys residue at the position equivalent to Tyr-284 in the human sequence UniProtKB:O43526. This mutation is located in the pore region and produces a reduction of wild type heteromeric currents.
PMID:9425895
http://purl.org/obo/owl/PMID#PMID_9425895
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:121200
http://purl.org/obo/owl/MIM#MIM_121200
voltage-gated potassium channel subunit KCNQ2 sequence variant 6
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:121200 "agent_in EPILEPSY, BENIGN NEONATAL, 1".nGO:0009986 "located_in cell surface [PMID:10788442, TaxID:9606]".
pro
MIM:121200
http://purl.org/obo/owl/MIM#MIM_121200
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a polymorphic sequence variant of the KCNQ2 gene that has a Thr residue at the position equivalent to Ala-306 in sequence UniProtKB:O43526. This mutation is located in transmembrane domain S6 and causes a reduction of wild type heteromeric currents.
PMID:10788442
http://purl.org/obo/owl/PMID#PMID_10788442
voltage-gated potassium channel subunit KCNQ2 sequence variant 7
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:121200 "agent_in EPILEPSY, BENIGN NEONATAL, 1".
pro
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a polymorphic sequence variant of the KCNQ2 gene that has a Gln residue at the position equivalent to Arg-333 in sequence UniProtKB:O43526. This mutation is located in the C-terminal segment.
PMID:14534157
http://purl.org/obo/owl/PMID#PMID_14534157
MIM:121200
http://purl.org/obo/owl/MIM#MIM_121200
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ2 sequence variant 8
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:121200 "agent_in EPILEPSY, BENIGN NEONATAL, 1".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a polymorphic sequence variant of the KCNQ2 gene that has a Val residue at the position equivalent to Met-208 in sequence UniProtKB:O43526. This mutation is located in the S4 transmembrane domain and causes minor effect on maximal current but clearly exhibits a faster rate of deactivation.
PMID:14534157
http://purl.org/obo/owl/PMID#PMID_14534157
MIM:121200
http://purl.org/obo/owl/MIM#MIM_121200
voltage-gated potassium channel subunit KCNQ2 sequence variant 9
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:121200 "agent_in EPILEPSY, BENIGN NEONATAL, 1".
pro
A voltage-gated potassium channel subunit KCNQ2 that is a translation product of a polymorphic sequence variant of the KCNQ2 gene that has a Asn residue at the position equivalent to Lys-526 in sequence UniProtKB:O43526-3. This mutation lies within the minimum KCNQ2 sequence necessary for CaM binding.
PMID:15249611
http://purl.org/obo/owl/PMID#PMID_15249611
MIM:121200
http://purl.org/obo/owl/MIM#MIM_121200
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ3 isoform 1
pro
A voltage-gated potassium channel subunit KCNQ3 that is a translation product of a processed transcript of the KCNQ3 gene, and that contains the core domains, as in the human sequence UniProtKB:O43525.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNQ4 isoform 1
pro
A voltage-gated potassium channel subunit KCNQ4 that is a translation product of a processed transcript of the KCNQ4 gene, and that includes all core domains, as in the human sequence UniProtKB:P56696-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNQ4 isoform 2
pro
A voltage-gated potassium channel subunit KCNQ4 that is a translation product of a processed transcript of the KCNQ4 gene, containing all transmembrane domains (S1-S6), but lacking at the C-terminus the region equivalent to that encoded by exon 9 in the human gene. Represented by UniProtKB:P56696-2.
PMID:10025409
http://purl.org/obo/owl/PMID#PMID_10025409
voltage-gated potassium channel subunit KCNQ4 sequence variant 1
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nGO:0005249 "has_function (impaired) voltage-gated potassium channel activity [PMID:10369879, TaxID:9606]".nMIM:600101 "agent_in DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2".
pro
GO:0005249
http://purl.org/obo/owl/GO#GO_0005249
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ4 that is a translation product of a polymorphic sequence variant of the KCNQ4 gene that has a Cys residue replacing the first Gly in the conserved selectivity filter sequence GYGD in the pore region of the human sequence UniProtKB:P56696.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600101
http://purl.org/obo/owl/MIM#MIM_600101
voltage-gated potassium channel subunit KCNQ4 sequence variant 2
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nMIM:600101 "agent_in DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2".
pro
MIM:600101
http://purl.org/obo/owl/MIM#MIM_600101
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
A voltage-gated potassium channel subunit KCNQ4 that is a translation product of a polymorphic sequence variant of the KCNQ4 gene that has a His residue at the position equivalent to Leu-274 in the human sequence UniProtKB:P56696. This residue is located in the pore region located between segments S5 and S6.
PMID:10925378
http://purl.org/obo/owl/PMID#PMID_10925378
voltage-gated potassium channel subunit KCNQ4 sequence variant 3
SO:1000093 "has_agent mutation_causing_amino_acid_substitution".nGO:0005249 "has_function (impaired) voltage-gated potassium channel activity [PMID:10025409, TaxID:9606]".nMIM:600101 "agent_in DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2".
pro
A voltage-gated potassium channel subunit KCNQ4 that is a translation product of a polymorphic sequence variant of the KCNQ4 gene that has a Cys residue replacing the first Gly in the conserved selectivity filter sequence GYGD in the pore region of the human sequence UniProtKB:P56696.
PMID:10025409
http://purl.org/obo/owl/PMID#PMID_10025409
GO:0005249
http://purl.org/obo/owl/GO#GO_0005249
MIM:600101
http://purl.org/obo/owl/MIM#MIM_600101
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ4 sequence variant 4
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10571947, TaxID:9606]".nMIM:600101 "agent_in DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2".
pro
A voltage-gated potassium channel subunit KCNQ4 that is a translation product of a polymorphic sequence variant of the KCNQ4 gene that has a Ser residue at the position equivalent to Leu-281 in sequence UniProtKB:P56696. This residue is located in the pore region located between segments S5 and S6.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MIM:600101
http://purl.org/obo/owl/MIM#MIM_600101
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ4 sequence variant 5
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10369879, TaxID:9606]".nMIM:600101 "agent_in DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2".
pro
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
MIM:600101
http://purl.org/obo/owl/MIM#MIM_600101
A voltage-gated potassium channel subunit KCNQ4 that is a translation product of a polymorphic sequence variant of the KCNQ4 gene that has a Ser residue at the position equivalent to Trp-276 in sequence UniProtKB:P56696. This residue is located in the pore region located between segments S5 and S6.
PMID:10369879
http://purl.org/obo/owl/PMID#PMID_10369879
voltage-gated potassium channel subunit KCNQ4 sequence variant 6
SO:1000093 "has_agent mutation_causing_amino_acid_substitution [PMID:10369879, TaxID:9606]".nMIM:600101 "agent_in DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 2".
pro
A voltage-gated potassium channel subunit KCNQ4 that is a translation product of a polymorphic sequence variant of the KCNQ4 gene that has a Ser residue at the position equivalent to Gly-321 in sequence UniProtKB:P56696.
PMID:10369879
http://purl.org/obo/owl/PMID#PMID_10369879
MIM:600101
http://purl.org/obo/owl/MIM#MIM_600101
SO:1000093
http://purl.org/obo/owl/SO#SO_1000093
voltage-gated potassium channel subunit KCNQ5 isoform 1
GO:0005249 "has_function voltage-gated potassium channel activity [PMID:15963599, TaxID:10090]".nGO:0008076 "part_of voltage-gated potassium channel complex [PMID:10787416, TaxID:9606]".nGO:0006813 "participates_in potassium ion transport [PMID:15963599, TaxID:10090]".nGO:0007268 "participates_in synaptic transmission [PMID:10787416, TaxID:9606]".
pro
GO:0007268
http://purl.org/obo/owl/GO#GO_0007268
A voltage-gated potassium channel subunit KCNQ5 that is a translation product of a processed transcript of the KCNQ5 gene represented by the human sequence UniProtKB:Q9NR82-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005249
http://purl.org/obo/owl/GO#GO_0005249
GO:0006813
http://purl.org/obo/owl/GO#GO_0006813
voltage-gated potassium channel subunit KCNQ5 isoform 2
GO:0005249 "has_function voltage-gated potassium channel activity [PMID:10816588, TaxID:9606]".
pro
A voltage-gated potassium channel subunit KCNQ5 that is a translation product of a processed transcript of the KCNQ5 gene represented by the human sequence UniProtKB:Q9NR82-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005249
http://purl.org/obo/owl/GO#GO_0005249
voltage-gated potassium channel subunit KCNQ5 isoform 3
GO:0005249 "has_function voltage-gated potassium channel activity [PMID:10816588, TaxID:9606]".
pro
A voltage-gated potassium channel subunit KCNQ5 that is a translation product of a processed transcript of the KCNQ5 gene represented by the human sequence UniProtKB:Q9NR82-3. This isoform displays altered gating kinetics.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:10816588
http://purl.org/obo/owl/PMID#PMID_10816588
GO:0005249
http://purl.org/obo/owl/GO#GO_0005249
voltage-gated potassium channel subunit KCNQ5 isoform 4
Pfam:PF03520 "NOT has_part KCNQ voltage-gated potassium channel domain".
pro
A voltage-gated potassium channel subunit KCNQ5 that is a translation product of the processed transcript of KCNQ5 gene, and lacks the C-terminal KCNQ voltage-gated potassium channel domain, as in the human sequence UniProtKB:Q9NR82-4.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cGMP-gated cation channel alpha-1 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A cGMP-gated cation channel alpha-1 isoform 1 that has been post-translationally modified to include phosphorylated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
platelet-derived growth factor C isoform 1 cleaved form
pro
A platelet-derived growth factor C isoform 1 that has been processed by proteolytic cleavage.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
platelet-derived growth factor C isoform 1 sumoylated form
MOD:01149 "has_modification sumoylated lysine".
pro
A platelet-derived growth factor C isoform 1 that has been post-translationally modified to include sumoylated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:01149
http://purl.org/obo/owl/MOD#MOD_01149
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 isoform 1 glycosylated form
MOD:00693 "has_modification glycosylated residue".
pro
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 isoform 1 that has been post-translationally modified to include glycosylated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 isoform 1 glycosylated form
MOD:00693 "has_modification glycosylated residue".
pro
A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 isoform 1 that has been post-translationally modified to include glycosylated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
transient receptor potential cation channel TRPC3 isoform 1
GO:0005515 "has_function protein binding [PMID:15744307, TaxID:9606]".nGO:0015279 "has_function store-operated calcium channel activity [PMID:9215637, TaxID:9606]".nGO:0005887 "located_in integral to plasma membrane [PMID:9368034, TaxID:9606]".nGO:0007602 "participates_in phototransduction [PMID:9215637, TaxID:9606]".
pro
GO:0007602
http://purl.org/obo/owl/GO#GO_0007602
GO:0005887
http://purl.org/obo/owl/GO#GO_0005887
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
A transient receptor potential cation channel TRPC3 that is a translation product of a processed transcript of the TRPC3 gene, and that includes the core domains, as in the human sequence UniProtKB:Q13507-1.
PRO:HJD
http://purl.org/obo/owl/PRO#PRO_HJD
GO:0015279
http://purl.org/obo/owl/GO#GO_0015279
voltage-gated potassium channel KCNA4 isoform 1 phosphorylated 1
GO:0014069 "located_in postsynaptic density [PMID:18056256, TaxID:10090]".nMOD:00046 "has_modification O-phosphorylated L-serine [PMID:18056256, TaxID:10090]".
pro
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
A voltage-gated potassium channel KCNA4 isoform 1 phosphorylated for with has been phosphorylated at the Ser residue located at the N-terminal Glu rich sequence ELSEEEEDEEEEEEEEEEGR. Example:UniProtKB:Q8CBF8-1, has_modification MOD:00046 O-phosphorylated L-serine, Ser-122.
PMID:18056256
http://purl.org/obo/owl/PMID#PMID_18056256
GO:0014069
http://purl.org/obo/owl/GO#GO_0014069
voltage-gated potassium channel KCNC1 isoform 1
GO:0032809 "located_in cell soma membrane [PMID:18094255]".
pro
Kv3.1a
A voltage-gated potassium channel KCNC1 that is a translation product of a processed transcript of the KCNC1 gene, and that includes the core domains and a short C-terminal tail, as in the human sequence UniProtKB:P48547-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0032809
http://purl.org/obo/owl/GO#GO_0032809
voltage-gated potassium channel KCNC1 isoform 2
GO:0030424 "located_in axon [PMID:18094255]".nGO:0005515 "has_function protein binding [PMID:18094255] with ankyrin G".
pro
GO:0030424
http://purl.org/obo/owl/GO#GO_0030424
Kv3.1b
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
A voltage-gated potassium channel KCNC1 that is a translation product of a processed transcript of the KCNC1 gene, and that includes the core domains and the longest C-terminal tail compare to isoform 1, as in the rat sequence UniProtKB:P25122-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNC2 isoform 1
GO:0015271 "contributes_to_function outward rectifier potassium channel activity [PMID:1879548, TaxID:10116]".
pro
KV3.2B
A voltage-gated potassium channel KCNC2 that is a translation product of a processed transcript of the KCNC2 gene, and that includes the core domains, as in the rat sequence UniProtKB:P22462-1.
PMID:1879548
http://purl.org/obo/owl/PMID#PMID_1879548
voltage-gated potassium channel KCNC2 isoform 2
pro
A voltage-gated potassium channel KCNC2 that is a translation product of a processed transcript of the KCNC2 gene, and that includes the core domains, but includes an alternative 3' exon coding region at the C-terminus compared to isoform 1, as in the human sequence UniProtKB:Q96PR1-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Kv3.2d
voltage-gated potassium channel KCNC2 isoform 3
GO:0005249 "contributes_to_function voltage-gated potassium channel activity [PMID:11506885]".
pro
A voltage-gated potassium channel KCNC2 that is a translation product of a processed transcript of the KCNC2 gene, and that includes the core domains, but includes an alternative 3' exon coding region at the C-terminus compared to isoform 1, as in the human sequence UniProtKB:Q96PR1-3.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
RKShIIIA
KV3..2a
voltage-gated potassium channel KCNC2 isoform 4
pro
Kv3.2c
A voltage-gated potassium channel KCNC2 that is a translation product of a processed transcript of the KCNC2 gene, and that includes the core domains, but includes an alternative 3' exon coding region at the C-terminus compared to isoform 1. This form lacks a region of around 80 residues at the C-terminus, as in the human sequence UniProtKB:Q96PR1-4.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNC4 isoform 1
pro
A voltage-gated potassium channel KCNC4 that is a translation product of a processed transcript of the KCNC4 gene, and that contains the core domains, as in the human sequence UniProtKB:Q03721-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNC4 isoform 2
pro
A voltage-gated potassium channel KCNC4 that is a translation product of a processed transcript of the KCNC4 gene, and that includes the core domains but has a shorter C-terminal cytoplasmic tail as compared to isoform 1, as in the human sequence UniProtKB:Q03721-2.
PMID:1381835
http://purl.org/obo/owl/PMID#PMID_1381835
voltage-gated potassium channel KCND2 isoform 1
GO:0009986 "located_in cell surface [PMID:12493773, TaxID:9606; PMID:16251476, TaxID:10090; PMID:12829703, TaxID:10090]".nGO:0005783 "located_in endoplasmic reticulum [PMID:12829703, TaxID:10090]".nGO:0001508 "participates_in regulation of action potential [PMID:11102480, TaxID:9606]".nGO:0007268 "participates_in synaptic transmission [PMID:11102480, TaxID:9606]".
pro
Kv4.2
GO:0001508
http://purl.org/obo/owl/GO#GO_0001508
GO:0005783
http://purl.org/obo/owl/GO#GO_0005783
GO:0007268
http://purl.org/obo/owl/GO#GO_0007268
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
A voltage-gated potassium channel subunit KCND2 that is a translation product of a processed transcript of the KCND2 gene, and that includes the potassium channel alpha subunit core domains.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCND3 isoform 1
GO:0005250 "contributes_to_function A-type (transient outward) potassium channel activity [PMID:8734615, TaxID:9606; PMID:9843794, TaxID:9606]".
pro
long isoform
A voltage-gated potassium channel subunit KCND3 that is a translation product of a processed transcript of the KCND3 gene, with carboxyl-terminal splicing that inserts 19 amino acids with a consensus protein kinase C (PKC) phosphorylation site after the last membrane-spanning segment. This form is downregulated by PKC activation. Represented by the human sequence UniProtKB:Q9UK17-1.
PMID:9843794
http://purl.org/obo/owl/PMID#PMID_9843794
KCND3L
Kv4.3-L
voltage-gated potassium channel KCND3 isoform 2
GO:0005250 "contributes_to_function A-type (transient outward) potassium channel activity [PMID:9843794, TaxID:9606]".
pro
KCND3S
A voltage-gated potassium channel subunit KCND3 that is a translation product of a processed transcript of the KCND3 gene, and that includes the core domains for the voltage-gated potassium channel, alpha subunits. This forms lacks the consensus protein kinase C (PKC) phosphorylation site after the last membrane-spanning segment, which is present in Isoform 2. Represented by the human sequence UniProtKB:Q9UK17-2.
PMID:9843794
http://purl.org/obo/owl/PMID#PMID_9843794
voltage-gated potassium channel KCNG1 isoform 1
pro
A voltage-gated potassium channel KCNG1 that is a translation product of a processed transcript of the KCNG1 gene, and that includes the core domains, as in the human sequence UniProtKB:Q9UIX4-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNG1 isoform 2
Pfam:PF00520 "NOT has_part Ion transport protein".
pro
A voltage-gated potassium channel KCNG1 that is a translation product of the processed transcript of KCNG1 gene, and lacks the Ion transport protein domain, as in the human sequence UniProtKB:Q9UIX4-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNG3 isoform 1
GO:0005783 "located_in endoplasmic reticulum [PMID:12060745, TaxID:9606]".nGO:0005886 "located_in plasma membrane [PMID:12060745, TaxID:9606]".nGO:0005249 "contibutes_to voltage-gated potassium channel activity [PMID:15046870, TaxID:100116]".nGO:0006813 "participates_in potassium ion transport [PMID:15046870, TaxID:100116]".
pro
KV10.1b
GO:0005783
http://purl.org/obo/owl/GO#GO_0005783
GO:0005886
http://purl.org/obo/owl/GO#GO_0005886
GO:0006813
http://purl.org/obo/owl/GO#GO_0006813
A Potassium voltage-gated channel subfamily G member 3 that is a translation product of a processed transcript of the KCNG3 gene, and arise by the usage of an alternative site of splicing in exon 1 producing an 11-amino acid insertion in the linker between the first and second transmembrane domains, as in the human sequence UniProtKB:Q8TAE7-1.
PMID:15046870
http://purl.org/obo/owl/PMID#PMID_15046870
voltage-gated potassium channel KCNG3 isoform 2
GO:0005249 "has_function voltage-gated potassium channel activity [PMID:15046870, TaxID:100116]".nGO:0006813 "participates_in potassium ion transport [PMID:15046870, TaxID:100116]".
pro
Kv10.1a
GO:0005249
http://purl.org/obo/owl/GO#GO_0005249
GO:0006813
http://purl.org/obo/owl/GO#GO_0006813
A voltage-gated potassium channel KCNG3 that is a translation product of a processed transcript of the KCNG3 gene, including all core domains, as in the human sequence UniProtKB:Q8TAE7-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNG4 isoform 1
pro
A Potassium voltage-gated channel subfamily G member 4 that is a translation product of a processed transcript of the KCNG4 gene, and that includes all core domains, as in the human sequence UniProtKB:Q8TDN1-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNH1 isoform 1
GO:0008076 "part_of voltage-gated potassium channel complex [PMID:9738473, TaxID:9606; PMID:11943152, TaxID:9606] with KCNH5 (PRO:000000794)".nGO:0005516 "has_function calmodulin binding [PMID: 10880439, TaxID:9606]".nGO:0005251 "has_function delayed rectifier potassium channel activity [PMID:9738473, TaxID:9606]".nGO:0007520 "participates_in myoblast fusion [PMID:9738473, TaxID:9606]".
pro
A voltage-gated potassium channel KCNH1 that is a translation product of a processed transcript of the KCNH1 gene, and that lacks most of the loop region between segment S3 and S4. Represented by the human sequence UniProtKB:O95259-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0007520
http://purl.org/obo/owl/GO#GO_0007520
GO:0005516
http://purl.org/obo/owl/GO#GO_0005516
Eag1
GO:0005251
http://purl.org/obo/owl/GO#GO_0005251
voltage-gated potassium channel KCNH1 isoform 2
pro
EAGb
A voltage-gated potassium channel KCNH1 that is a translation product of a processed transcript of the KCNH1 gene, with an additional sequence of approximately 27 aminoacids in the region between segments S3 and S4, as in the sequence UniProtKB:O95259-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNH2 isoform 1
GO:0009986 "located_in cell surface [PMID:12063277, TaxID:9606]".nGO:0005251 "contributes_to_function delayed rectifier potassium channel activity [PMID:9351446, TaxID:9606, TaxID:10090; PMID:9351462, TaxID:10090]".nGO:0008076 "part_of voltage-gated potassium channel complex [PMID:9351462, TaxID:10090]".nGO:0030552 "has_function cAMP binding [PubMed:10837251, TaxID:9606]".nGO:0005635 "located_in nuclear envelope [PMID:14668215, TaxID:10090] during development".nGO:0005737 "located_in cytoplasm [PMID:14668215, TaxID:10090] during development".
pro
GO:0030552
http://purl.org/obo/owl/GO#GO_0030552
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
A voltage-gated potassium channel KCNH2 that is a translation product of a processed transcript of the KCNH2 gene, and that contains all core domains, as in the human sequence UniProtKB:Q12809-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005737
http://purl.org/obo/owl/GO#GO_0005737
GO:0005635
http://purl.org/obo/owl/GO#GO_0005635
voltage-gated potassium channel KCNH2 isoform 2
Pfam:PF00989 "NOT has_part PAS domain".nGO:0005251 "contributes_to_function delayed rectifier potassium channel activity [PMID:9351446, TaxID:9606, TaxID:10090; PMID:9351462, TaxID:10090]".nGO:0008076 "part_of voltage-gated potassium channel complex [PMID:9351462, TaxID:10090]".
pro
A voltage-gated potassium channel KCNH2 that is a translation product of a processed transcript of the KCNH2 gene, and that lacks most of the cytoplasmic N-terminal domain, including the PAS domain, due to the usage of an alternative exon 1 (1b) that excludes the region coded by exons 2 to 5. Represented by the mouse sequence UniProtKB:O35219-3. This form has rapid deactivation kinetics. Exon nomenclature from PMID:9351462.
PMID:9351462
http://purl.org/obo/owl/PMID#PMID_9351462
PMID:9351446
http://purl.org/obo/owl/PMID#PMID_9351446
ERG1b
voltage-gated potassium channel KCNH2 isoform 3
GO:0005251 "contributes_to_function (impaired) delayed rectifier potassium channel activity [PMID:9765245, TaxID:9606]".nGO:0008076 "part_of voltage-gated potassium channel complex [PMID:9765245, TaxID:9606]".
pro
A voltage-gated potassium channel KCNH2 that is a translation product of a processed transcript of the KCNH2 gene, and that lacks a C-terminal domain required for expression of rapidly activating delayed rectifier current. This form appears to be partially made up of sequences encoded by regions previously thought to be intronic located between exons 9 and 10. Represented by the human sequence UniProtKB:Q12809-3. Exon nomenclature from PMID:9351462.
PMID:9765245
http://purl.org/obo/owl/PMID#PMID_9765245
ERG USO
voltage-gated potassium channel KCNH2 isoform 4
GO:0005251 "has_function delayed rectifier potassium channel activity [PMID:9351462, TaxID:10090]".nGO:0008076 "part_of voltage-gated potassium channel complex [PMID:9351462, TaxID:10090]".
pro
erg1a'
A voltage-gated potassium channel KCNH2 that is a translation product of a processed transcript of the KCNH2 gene, and that lacks an N-terminal region of approximately 59 residues due to the usage of an alternative exon 1 (exon 1a'). This form lacks most of the PAS domain. Represented by the mouse sequence UniProtKB:O35219-2. This form has rapid deactivation kinetics. Exon nomenclature from PMID:9351462.
PMID:9351462
http://purl.org/obo/owl/PMID#PMID_9351462
GO:0005251
http://purl.org/obo/owl/GO#GO_0005251
voltage-gated potassium channel KCNH3 isoform 1
pro
A voltage-gated potassium channel KCNH3 that is a translation product of a processed transcript of the KCNH3 gene, and that includes all core domains, as in the human sequence UniProtKB:Q9ULD8-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNH4 isoform 1
GO:0008076 "part_of voltage-gated potassium channel complex [PMID:10455180, TaxID:9606]".
pro
A voltage-gated potassium channel KCNH4 that is a translation product of a processed transcript of the KCNH4 gene, and that includes all core domains, as in the human sequence UniProtKB:Q9UQ05-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNH5 isoform 1
pro
A voltage-gated potassium channel KCNH5 that is a translation product of a processed transcript of the KCNH5 gene, and that includes all core domains, as in the sequence UniProtKB:Q8NCM2-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNH5 isoform 2
pro
A voltage-gated potassium channel KCNH5 that is a translation product of a processed transcript of the KCNH5 gene which lacks an exon in the coding region, which results in a frameshift and an early stop codon, as compared to isoform 1. This results in a shorter form that is truncated within the cyclic nucleotide binding domain. The truncated region also includes the calmodulin-binding region, and is represented by the human sequence UniProtKB:Q8NCM2-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Refseq:NP_758963
http://purl.org/obo/owl/Refseq#Refseq_NP_758963
HEAG2b
voltage-gated potassium channel KCNH5 isoform 3
pro
A voltage-gated potassium channel KCNH5 that is a translation product of a processed transcript of the KCNH5 gene that has alternate 5' and 3' ends, as compared to variant 1. It uses a downstream in-frame start codon and an alternate stop codon, resulting in an isoform that has a shorter N-terminus and a distinct C-terminus, as compared to isoform 1. Represented by the human sequence UniProtKB:Q8NCM2-3.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Refseq:NP_758964
http://purl.org/obo/owl/Refseq#Refseq_NP_758964
voltage-gated potassium channel KCNH6 isoform 1
pro
A voltage-gated potassium channel KCNH6 that is a translation product of a processed transcript of the KCNH6 gene, and that contains the core domains, as in sequence UniProtKB:Q9H252.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNH6 isoform 2
pro
A voltage-gated potassium channel KCNH6 that is a translation product of a processed transcript of the KCNH6 gene that lacks two in-frame segments in the coding region, rendering a protein shorter than isoform 1. It lacks the loop region connecting segments S5 and S6, and a region consisting of around 38 residues following the cytoplasmic cyclic nucleotide binding domain. Represented by the human sequence UniProtKB:Q9H252-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNH6 isoform 3
Pfam:PF00027 "NOT has_part Cyclic nucleotide-binding domain".
pro
A voltage-gated potassium channel KCNH6 that is a translation product of a processed transcript of the KCNH6 gene, that lacks the region coding for the C-terminus of the protein including part of the segment S6 and the cyclic nucleotide-binding domain, rendering a truncated protein compared to isoform 1. Represented by the human sequence UniProtKB:Q9H252-3.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNS1 isoform 1
GO:0015459 "has_function potassium channel regulator activity [PMID:10484328, TaxID:9606; PMID:9305895, TaxID:10090]".nGO:0005251 "contributes_to_function delayed rectifier potassium channel activity [PMID:10484328, TaxID:9606]".nGO:0005886 "located_in plasma membrane [PMID:10484328, TaxID:9606]".
pro
GO:0015459
http://purl.org/obo/owl/GO#GO_0015459
GO:0005886
http://purl.org/obo/owl/GO#GO_0005886
A voltage-gated potassium channel KCNS1 that is a translation product of a processed transcript of the KCNS1 gene, and that includes the core domains, as in the human sequence UniProtKB:Q96KK3-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNS2 isoform 1
GO:0015459 "has_function potassium channel regulator activity [PMID:9305895, TaxID:10090]".
pro
A voltage-gated potassium channel KCNS2 that is a translation product of a processed transcript of the KCNS2 gene, and that includes the core domains, as in the mouse sequence UniProtKB:O35174-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0015459
http://purl.org/obo/owl/GO#GO_0015459
voltage-gated potassium channel subunit KCNA10 isoform 1
GO:0005221 "contributes_to_function intracellular cyclic nucleotide activated cation channel activity [PMID:9177773, TaxID:9606; PMID:10836990, TaxID:9606]".nGO:0005251 "contributes_to_function delayed rectifier potassium channel activity [PMID:10836990, TaxID:9606]".nGO:0008076 "part_of voltage-gated potassium channel complex [PMID:12060596, TaxID:9606]".
pro
A voltage-gated potassium channel subunit KCNA10 that is a translation product of a processed transcript of the KCNA10 gene, and that includes the potassium channel alpha subunit core domains, as in the human sequence UniProtKB:Q16322-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNA2 isoform 1
GO:0005251 "contributes_to_function delayed rectifier potassium channel activity [PMID:1715584, TaxID:9606]".nGO:0008076 "has_part voltage-gated potassium channel complex"nGO:0005515 "has_function protein binding [PMID:17959782, TaxID:10116]".nGO:0009986 "located_in cell surface [PMID:15215309, TaxID:9606]".
pro
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
GO:0005515
http://purl.org/obo/owl/GO#GO_0005515
A voltage-gated potassium channel subunit KCNA2 that is a translation product of a processed transcript of the KCNA2 gene, and that includes the potassium channel alpha subunit core domains. Represented by the human UniProtKB:P16389-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNA3 isoform 1
GO:0005251 "has_function delayed rectifier potassium channel activity [PMID:1986382, TaxID:9606]".nGO:0005743 "located_in mitochondrial inner membrane [PMID:15632141, TaxID:9606]".nGO:0005886 "located_in plasma membrane [PMID:15632141, TaxID:9606]".
pro
GO:0005886
http://purl.org/obo/owl/GO#GO_0005886
GO:0005743
http://purl.org/obo/owl/GO#GO_0005743
GO:0005251
http://purl.org/obo/owl/GO#GO_0005251
A voltage-gated potassium channel subunit KCNA3 that is a translation product of a processed transcript of the KCNA3 gene, and that includes the potassium channel alpha subunit core domains. Represented by the human sequence UniProtKB:P22001-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNA5 isoform 1
GO:0005251 "contributes_to_function delayed rectifier potassium channel activity [PMID:1986382, TaxID:9606]".
pro
A voltage-gated potassium channel subunit KCNA5 that is a translation product of a processed transcript of the KCNA5 gene, and that includes the potassium channel alpha subunit core domains.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNA5 isoform 2
Pfam:PF02214 "NOT has_part K+ channel tetramerisation domain".
pro
voltage-gated potassium channel subfamily A member 5 isoform 2
Kv1-5delta5'
A voltage-gated potassium channel subunit KCNA5 that is a translation product of a processed transcript of the KCNA5 gene, and that lacks the N terminus tetramerization domain.
PMID:8226976
http://purl.org/obo/owl/PMID#PMID_8226976
PMID:11524461
http://purl.org/obo/owl/PMID#PMID_11524461
voltage-gated potassium channel subunit KCNA5 isoform 3
pro
voltage-gated potassium channel subfamily A member 5 isoform 3
Kv1-5delta3'
A voltage-gated potassium channel subunit KCNA5 that is a translation product of a processed transcript of the KCNA5 gene, and that lacks the C terminus intracellular part.
PMID:8226976
http://purl.org/obo/owl/PMID#PMID_8226976
voltage-gated potassium channel subunit KCNA5 sequence variant 1
Pfam:PF00520 "NOT has_part Ion transport protein".nGO:0005251 "NOT contributes_to_function delayed rectifier potassium channel activity [PMID:16772329, TaxID:9606]".
pro
A voltage-gated potassium channel subunit Kv1.5 that is a translation product of the a polymorphic sequence variant of KCNA5 gene, and that generates a C terminal truncated variant lacking the S4-S6 voltage sensor, pore region and C terminus, but preserves the N terminus and S1-S3 transmembrane domains that secure tetrameric subunit assembly. Example: UniProtKB:P22460 (1-374).
PMID:16772329
http://purl.org/obo/owl/PMID#PMID_16772329
voltage-gated potassium channel subunit KCNA6 isoform 1
pro
A voltage-gated potassium channel subunit KCNA6 that is a translation product of a processed transcript of the KCNA6 gene, and that includes the potassium channel alpha subunit core domains.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNA7 isoform 1
GO:0005249 "has_function voltage-gated potassium channel activity [PMID:16801386, TaxID:10090]".nGO:0008076 "part_of voltage-gated potassium channel complex [PMID:16801386, TaxID:10090]".
pro
Kv1.7L
Potassium voltage-gated channel subfamily A member 7 isoform 1
A voltage-gated potassium channel subunit KCNA7 that is a translation product of a processed transcript of the KCNA7 gene, and that includes the potassium channel alpha subunit core domains plus an additional N terminal sequence with a Hx20CxCC motif resembling a metal coordination motif. This N terminus appears to be a key component in the redox sensitivity of Kv1.7 channel inactivation. This form contributes to channels that inactivate fast and are sensitive to redox modulation. Represented by the mouse sequence UniProtKB:Q17ST2-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005249
http://purl.org/obo/owl/GO#GO_0005249
voltage-gated potassium channel subunit KCNA7 isoform 2
GO:0005249 "has_function voltage-gated potassium channel activity [PMID:16801386, TaxID:10090]".nGO:0008076 "located_in voltage-gated potassium channel complex [PMID:16801386, TaxID:10090]".
pro
Kv1.7S
GO:0005249
http://purl.org/obo/owl/GO#GO_0005249
GO:0008076
http://purl.org/obo/owl/GO#GO_0008076
A voltage-gated potassium channel subunit KCNA7 that is a translation product of a processed transcript of the KCNA7 gene, and that includes the potassium channel alpha subunit core domains, as in the mouse sequence UniProtKB:Q17ST2-2. This form contributes to channels that are slow-inactivating and redox-insensitive.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cGMP-gated cation channel alpha-1 isoform 1 phosphorylated 1
MOD:00048 "has_modification O4'-phosphorylated L-tyrosine [PMID:14602825, TaxID:9913]".nGO:0030553 "has_function (decrease) cGMP binding [PMID:10366613, TaxID:9913]".
pro
MOD:00048
http://purl.org/obo/owl/MOD#MOD_00048
GO:0030553
http://purl.org/obo/owl/GO#GO_0030553
A cGMP-gated cation channel alpha-1 isoform 1 phosphorylated form that has been phosphorylated at a Tyr residue within VYSPGD motif located at the N-terminus of the cyclic-nucleotide binding domain (CNDB). This phosphorylation prevents Ca2+/CaM inhibition of the CNG channel, but at the same time has a similar effect, that is decreases the apparent affinity for cGMP.
PMID:10366613
http://purl.org/obo/owl/PMID#PMID_10366613
PMID:14602825
http://purl.org/obo/owl/PMID#PMID_14602825
platelet-derived growth factor C isoform 1 cleaved 1
GO:0005615 "located_in extracellular space [PMID:15911618, TaxID:9606; PMID:15372073, TaxID:10090]".nGO:0005102 "has_function receptor binding [PMID:11297552, TaxID:9606; PMID:10806482, TaxID:9606]".nGO:0008083 "has_function growth factor activity [PMID:11297552, TaxID:9606; PMID:10806482, TaxID:9606]".nGO:0042060 "participates_in wound healing [PMID:11297552, TaxID:10090]".nPfam:PF00431 "NOT has_part CUB domain".
pro
GO:0008083
http://purl.org/obo/owl/GO#GO_0008083
GO:0005615
http://purl.org/obo/owl/GO#GO_0005615
GO:0042060
http://purl.org/obo/owl/GO#GO_0042060
A platelet-derived growth factor C isoform 1 cleaved form whose signal peptide and CUB domain have been removed.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0005102
http://purl.org/obo/owl/GO#GO_0005102
platelet-derived growth factor C isoform 1 sumoylated 1
GO:0005634 "located_in nucleus [PMID:16443219, TaxID:9606]".
pro
GO:0005634
http://purl.org/obo/owl/GO#GO_0005634
A platelet-derived growth factor C isoform 1 sumoylated form sumoylated by SUMO1.
PMID:16443219
http://purl.org/obo/owl/PMID#PMID_16443219
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 isoform 1 glycosylated 1
MOD:00006 "has_modification N-glycosylated residue [PMID:12928435, TaxID:10090]".nGO:0009986 "located_in cell surface [PMID:12928435, TaxID:10090]".
pro
MOD:00006
http://purl.org/obo/owl/MOD#MOD_00006
A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1 isoform 1 glycosylated form with glycosylation at the N-linked glycosylation consensus sequence (Nx[ST]) in the extracellular domain between S5 and S6 transmembrane segments.
PMID:17988239
http://purl.org/obo/owl/PMID#PMID_17988239
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 isoform 1 glycosylated 1
MOD:00006 "has_modification N-glycosylated residue [PMID:12928435, TaxID:10090]".nGO:0009986 "located_in cell surface [PMID:12928435, TaxID:10090]".
pro
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
MOD:00006
http://purl.org/obo/owl/MOD#MOD_00006
A potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 2 isoform 1 glycosylated form with glycosylation at the N-linked glycosylation consensus sequence (Nx[ST]) in the extracellular domain between S5 and S6 transmembrane segments. Example: UniProtKB:O88703-1, has_modification MOD:00006 N-glycosylated residue, Asn-380.
PMID:12928435
http://purl.org/obo/owl/PMID#PMID_12928435
voltage-gated potassium channel KCNC1 isoform 2 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
A voltage-gated potassium channel KCNC1 isoform 2 that has been post-translationally modified to include phosphorylated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
voltage-gated potassium channel KCNC4 isoform 2 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A voltage-gated potassium channel KCNC4 isoform 2 that has been post-translationally modified to include phosphorylated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCND2 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A voltage-gated potassium channel KCND2 isoform 1 that has been post-translationally modified to include phosphorylated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNH2 isoform 1 glycosylated form
MOD:00693 "has_modification glycosylated residue".
pro
A voltage-gated potassium channel KCNH2 isoform 1 that has been post-translationally modified to include a glycosylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
MOD:00693
http://purl.org/obo/owl/MOD#MOD_00693
voltage-gated potassium channel KCNH2 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A voltage-gated potassium channel KCNH2 isoform 1 that has been post-translationally modified to include phosphorylated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNA2 isoform 1 phosphorylated form
MOD:00696 "has_modification phosphorylated residue".
pro
MOD:00696
http://purl.org/obo/owl/MOD#MOD_00696
A voltage-gated potassium channel subunit KCNA2 isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCNC1 isoform 2 phosphorylated 1
MOD:00046 "has_modification O-phosphorylated L-serine [PMID:16595659, TaxID:10116]".nGO:0016020 "located_in membrane [PMID:16595659, TaxID:10116]".nGO:0005249 "contributes_to_function (decreased) voltage-gated potassium channel activity [PMID:16595659, TaxID:10116]".
pro
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
GO:0016020
http://purl.org/obo/owl/GO#GO_0016020
A voltage-gated potassium channel KCNC1 isoform 2 phosphorylated form that has been phosphorylated by PKC at a Ser residue within the DSKL motif located in the C-terminal tail. In resting neurons, basal phosphorylation at this site decreases Kv3.1 channel current, reducing neuronal ability to follow high frequency stimulation. Example: UniProtKB:P25122-1, has_modification MOD:00046 O-phosphorylated L-serine, Ser-502.
PMID:16595659
http://purl.org/obo/owl/PMID#PMID_16595659
voltage-gated potassium channel KCNC4 isoform 2 phosphorylated 1
MOD:00046 "has_modification O-phosphorylated L-serine [PMID:7993631, TaxID:9606; PMID:9649584, TaxID:9606]".nGO:0005250 "contributes_to_function (decreased) A-type (transient outward) potassium channel activity [PMID:7993631, TaxID:9606; PMID:9649584, TaxID:9606]".
pro
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
A voltage-gated potassium channel KCNC1 isoform 2 phosphorylated form that has been phosphorylated by PKC at multiple Ser residues located in the N-terminal domain. Example: Q03721-2, has_modification MOD:00046 O-phosphorylated L-serine, Ser-8/Ser-9/Ser15/Ser-21.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel KCND2 isoform 1 phosphorylated 1
MOD:00046 "has_modification O-phosphorylated L-serine [PMID:10681507, TaxID:10090]".nMOD:00047 "has_modification O-phosphorylated L-threonine [PMID:10681507, TaxID:10090]".
pro
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
A voltage-gated potassium channel KCND2 isoform 1 phosphorylated form phosphorylated in the amino and carboxyl terminal cytoplasmic domains by cAMP-dependent protein kinase (PKA). At the N-terminus, the phosporylation occurs at a Thr residue within the PKA consensus phosphorylation sequence adjacent to the first transmembrane domain (segment S1). At the C-terminus, it occurs at the conserved Ser within the motif [RQ]GS[IV]QEL. Example:UniProtKB:Q9Z0V1-1, has_modification MOD:00047 O-phosphorylated L-threonine, Thr-38, has_modification MOD:00046 O-phosphorylated L-serine, Ser-552.
PMID:10681507
http://purl.org/obo/owl/PMID#PMID_10681507
voltage-gated potassium channel KCND2 isoform 1 phosphorylated 2
MOD:00047 "has_modification O-phosphorylated L-threonine [PMID:11040264, TaxID:10090]".nGO:0030425 "located_in dendrite [PMID:11040264, TaxID:10090]".
pro
A voltage-gated potassium channel KCND2 isoform 1 phosphorylated form phosphorylated in the amino terminal cytoplasmic domain by cAMP-dependent protein kinase (PKA). The phosporylation occurs at a Thr residue within the PKA consensus phosphorylation sequence adjacent to the first transmembrane domain (segment S1). Example:UniProtKB:Q9Z0V1-1, has_modification MOD:00047 O-phosphorylated L-threonine, Thr-38.
PMID:11040264
http://purl.org/obo/owl/PMID#PMID_11040264
GO:0030425
http://purl.org/obo/owl/GO#GO_0030425
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
voltage-gated potassium channel KCND2 isoform 1 phosphorylated 3
MOD:00046 "has_modification O-phosphorylated L-serine [PMID:11040264, TaxID:10090]".nGO:0030425 "located_in dendrite [PMID:11040264, TaxID:10090]".
pro
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
A voltage-gated potassium channel KCND2 isoform 1 phosphorylated form phosphorylated in carboxyl terminal cytoplasmic domain by cAMP-dependent protein kinase (PKA). Phosphorylation occurs at the conserved Ser within the motif [RQ]GS[IV]QEL. Example:UniProtKB:Q9Z0V1-1, has_modification MOD:00046 O-phosphorylated L-serine, Ser-552).
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
GO:0030425
http://purl.org/obo/owl/GO#GO_0030425
voltage-gated potassium channel KCND2 isoform 1 phosphorylated 4
MOD:00047 "has_modification O-phosphorylated L-threonine [PMID:11040264, TaxID:10090]".nGO:0030425 "located_in dendrite [PMID:11040264, TaxID:10090]".nGO:0005250 "contributes_to_function (decrease) A-type (transient outward) potassium channel activity [PMID:16251476, TaxID:10090]".nGO:0009986 "located_in cell surface [PMID:16251476, TaxID:10090]".
pro
GO:0030425
http://purl.org/obo/owl/GO#GO_0030425
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
A voltage-gated potassium channel KCND2 isoform 1 phosphorylated form phosphorylated in carboxyl terminal cytoplasmic domain by ERK at the three most C-terminal consensus motifs (minimal motif=a serine or threonine followed directly by a proline). Example:UniProtKB:Q9Z0V1-1, has_modification MOD:00047 O-phosphorylated L-threonine,Thr-602/Thr-607,nhas_modification MOD:00046 O-phosphorylated L-serine, Ser-616.
PMID:11080179
http://purl.org/obo/owl/PMID#PMID_11080179
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
voltage-gated potassium channel KCNH2 isoform 1 glycosylated 1
GO:0009986 "located_in cell surface [PMID:12063277, TaxID:9606]".nGO:0008076 "part_of voltage-gated potassium channel complex [PMID:12063277, TaxID:9606]".nMOD:00160 "has_modification N4-glycosyl-L-asparagine [PMID:12063277, TaxID:9606]".nGO:0005886 "located_in plasma membrane [PMID:14668215, TaxID:10090]".
pro
A voltage-gated potassium channel KCNH2 isoform 1 glycosylated form that has been glycosylated at the Asn residue within the Nx[T/S] motif located approximately 26 amino acids downstream of the S5 transmembrane domain.
PMID:12063277
http://purl.org/obo/owl/PMID#PMID_12063277
GO:0005886
http://purl.org/obo/owl/GO#GO_0005886
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
MOD:00160
http://purl.org/obo/owl/MOD#MOD_00160
voltage-gated potassium channel KCNH2 isoform 1 phosphorylated 1
GO:0005251 "has_function (decreased) delayed rectifier potassium channel activity [PMID:10837251, TaxID:9606]".nGO:0008076 "part_of voltage-gated potassium channel complex [PMID:10837251, TaxID:9606]".nMOD:00046 "has_modification O-phosphorylated L-serine".nMOD:00046 "has_modification O-phosphorylated L-threonine".
pro
A voltage-gated potassium channel KCNH2 isoform 1 phosphorylated form that has been phosphorylated in Ser and Thr residues located in the intracellular loops by PKA.
PMID:10837251
http://purl.org/obo/owl/PMID#PMID_10837251
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
GO:0005251
http://purl.org/obo/owl/GO#GO_0005251
voltage-gated potassium channel subunit KCNA2 isoform 1 phosphorylated 1
GO:0005251 "NOT has_function delayed rectifier potassium channel activity [PMID:15215309, TaxID:9606]".nGO:0044440 "located_in endosomal part [PMID:15215309, TaxID:9606]".nMOD:00048 "has_modification O4'-phosphorylated L-tyrosine".
pro
MOD:00048
http://purl.org/obo/owl/MOD#MOD_00048
GO:0044440
http://purl.org/obo/owl/GO#GO_0044440
A voltage-gated potassium channel subunit KCNA2 isoform 1 phosphorylated form that has been phosphorylated on the Tyr residue within the REDEGYIK sequence located adjacent to the tetramerization domain. Phosphorylation at this site promotes endocytosis and suppresses the channel activity. Example:UniProtKB:P16389-1, has_modification MOD:00048 O4'-phosphorylated L-tyrosine, Tyr-132.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
voltage-gated potassium channel subunit KCNA2 isoform 1 phosphorylated 2
GO:0009986 "located_in cell surface [PMID:18056633, TaxID:9606, 10090, 10116]".nGO:0008076 "has_part voltage-gated potassium channel complex [PMID:18056633, TaxID:9606, 10090, 10116]".nMOD:00046 "has_modification O-phosphorylated L-serine".
pro
GO:0009986
http://purl.org/obo/owl/GO#GO_0009986
A voltage-gated potassium channel subunit KCNA2 isoform 1 phosphorylated form that has been phosphorylated on the pair of Ser residues within the SSPD motif at the C terminus. Phosphorylation at this site promotes cell surface localization. Example: UniProtKB:P16389-1, has_modification MOD:00046 O-phosphorylated L-serine, Ser-440/Ser-441.
PMID:18056633
http://purl.org/obo/owl/PMID#PMID_18056633
MOD:00046
http://purl.org/obo/owl/MOD#MOD_00046
CD19
Pfam:PF07686 "has_part Immunoglobulin V-set domain".
pro
PIRSF:PIRSF016630
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF016630
Pfam:PF07686
http://purl.org/obo/owl/Pfam#Pfam_PF07686
A protein that is a translation product of the CD19 gene. It is composed of an N-terminal extracellular domain containing two Ig-like C2-type (immunoglobulin-like) domains, followed by a single pass transmembrane segment and a cytoplasmic C-teminal tail. CD19 expression is restricted to members of the B cell lineage. It functions as a co-receptor for B-cell antigen receptor (BCR), regulating signal transduction.
PMID:15778510
http://purl.org/obo/owl/PMID#PMID_15778510
B-lymphocyte antigen CD19 precursor
CD34
Pfam:PF06365 "has_part CD34/Podocalyxin family".
pro
CD34
PIRSF:PIRSF028749
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF028749
A protein that is a translation product of the CD34 gene. It is a leukocyte membrane protein expressed specifically by lymphohematopoietic progenitor cells. It contains a single-pass transmembrane domain and that show distinct expression on early hematopoietic precursors and vascular-associated tissue. Acts as a scaffold that presents selectin carbohydrate ligands in a clustered, tissue specific manner to allow for higher avidity interactions between leukocytes and endothelial cells during the inflammatory process. In common to related sialomucins (endoglycan and podocalyxin), the extracellular region is dominated by an N-terminal mucin-like domain, which is densely substituted with sialylated O-linked carbohydrates. The mucin-like region is followed by a cysteine-containing and presumably globular domain. This domain may fold into an immunoglobulin-like structure as the positions of 2 of the cysteines are conserved in the C2 set of the immunoglobulin superfamily. The cytoplasmic domain is around 73-76 residues long and highly conserved.
PMID:8983065
http://purl.org/obo/owl/PMID#PMID_8983065
PMID:16720896
http://purl.org/obo/owl/PMID#PMID_16720896
Pfam:PF06365
http://purl.org/obo/owl/Pfam#Pfam_PF06365
CD4
Pfam:PF05790 "has_part Immunoglobulin C2-set domain".nPfam:PF00047 "has_part Immunoglobulin domain".nPfam:PF09191 "has_part CD4, extracellular".
pro
T-cell surface antigen T4/Leu-3
Pfam:PF05790
http://purl.org/obo/owl/Pfam#Pfam_PF05790
Pfam:PF09191
http://purl.org/obo/owl/Pfam#Pfam_PF09191
PIRSF:PIRSF001977
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF001977
A protein that is a translation product of the CD4 gene. CD4 is an accessory protein for MHC class-II antigen/T-cell receptor interaction. It is the primary receptor for HIV-1. CD4 has four immunoglobulin-like domains in its extracellular region that share the same structure, but can differ in sequence.
PMID:15326605
http://purl.org/obo/owl/PMID#PMID_15326605
T-cell surface glycoprotein CD4
Pfam:PF00047
http://purl.org/obo/owl/Pfam#Pfam_PF00047
integrin alpha with A domain
Pfam:PF00092 "has_part von Willebrand factor type A domain".nPfam:PF01839 "has_part FG-GAP repeat".nPfam:PF08441 "has_part Integrin alpha".nPfam:PF00357 "has_part Integrin alpha cytoplasmic region".
pro
Pfam:PF01839
http://purl.org/obo/owl/Pfam#Pfam_PF01839
Pfam:PF00092
http://purl.org/obo/owl/Pfam#Pfam_PF00092
Pfam:PF00357
http://purl.org/obo/owl/Pfam#Pfam_PF00357
Pfam:PF08441
http://purl.org/obo/owl/Pfam#Pfam_PF08441
PIRSF:PIRSF002497
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF002497
A protein that is an alpha subunit of integrin. A hallmark of this class is the presence of a von Willebrand factor type A domain (I-domain) of approximately 200 amino acid residues at the N-terminus, which confers divalent cation binding properties. Unlike other integrin alpha proteins, they do not undergo protease cleavage. In common to other types of integrin alpha proteins, they are composed of a long N-terminal extracellular domain, a transmembrane domain and a short cytoplasmic C-terminal domain. Integrins are heterodimers of an alpha and a beta subunits. They are a structurally elaborate family of adhesion molecules that transmit signals bidirectionally across the plasma membrane by undergoing large-scale structural rearrangements. By regulating cell-cell and cell-matrix contacts, integrins participate in a wide-range of biological interactions including development, tissue repair, angiogenesis, inflammation and hemostasis.
PMID:10402956
http://purl.org/obo/owl/PMID#PMID_10402956
PMID:9676575
http://purl.org/obo/owl/PMID#PMID_9676575
PMID:11988479
http://purl.org/obo/owl/PMID#PMID_11988479
leukocyte common antigen CD45
Pfam:PF00041 "has_part Fibronectin type III domain".nPfam:PF00102 "has_part Protein-tyrosine phosphatase".
pro
LCA
T200 glycoprotein
Pfam:PF00041
http://purl.org/obo/owl/Pfam#Pfam_PF00041
Pfam:PF00102
http://purl.org/obo/owl/Pfam#Pfam_PF00102
A protein that is a translation product of the PTPRC gene. It is composed of an extracellular domain, a single transmembrane segment and two tandem intracytoplasmic protein-tyrosine phosphatase domains. Contains 1 to 3 fibronectin type III domains followed by two protein-tyrosine phosphatase domains. CD45 regulates signal transduction and lymphocyte activation by specific association with receptor molecules on T and B cells. Multiple isoforms of CD45 (180-235 kDa) can be generated asna result of alternative splicing of three variable exons 4(A), 5(B) and 6(C), encoding sequences at the N-terminal extracellular domain of the molecule.
PMID:1351092
http://purl.org/obo/owl/PMID#PMID_1351092
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Leukocyte common antigen precursor
EC 3.1.3.48
CD45 antigen
PIRSF:PIRSF002004
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF002004
integrin alpha-1
pro
integrin alpha-1 precursor
An integrin alpha with A domain that is a translation product of the ITGA1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
integrin alpha-2
pro
Integrin alpha-2 precursor
An integrin alpha with A domain that is a translation product of the ITGA2 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
integrin alpha-D
pro
An integrin alpha with A domain that is a translation product of the ITGAD gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Integrin alpha-D precursor
integrin alpha-E
pro
Integrin alpha-E precursor
An integrin alpha with A domain that is a translation product of the ITGAE gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
integrin alpha-L
pro
An integrin alpha with A domain that is a translation product of the ITGAL gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Integrin alpha-L precursor
integrin alpha-M
pro
Leukocyte adhesion receptor MO1
An integrin alpha with A domain that is a translation product of the ITGAM gene. They constitute subunits of the integrin alpha-M/beta-2 receptor. This receptor is implicated in various adhesive interactions of monocytes, macrophages and granulocytes as well as in mediating the uptake of complement-coated particles. It is also a receptor for fibrinogen, factor X and ICAM1.
UniProtKB:P11215
http://purl.org/obo/owl/UniProtKB#UniProtKB_P11215
leukocyte integrin CR3 alpha subunit
Cell surface glycoprotein MAC-1 subunit alpha
CD11b
integrin alpha-X
pro
Leukocyte adhesion receptor p150,95
CD11c antigen
An integrin alpha with A domain that is a translation product of the ITGAX gene. Integrin alpha-X complexed with beta-2 is a receptor for fibrinogen. It recognizes the sequence GPR in fibrinogen. It mediates cell-cell interaction during inflammatory responses. It is especially important in monocyte adhesion and chemotaxis.
UniProtKB:P20702
http://purl.org/obo/owl/UniProtKB#UniProtKB_P20702
leukocyte common antigen CD45 isoform CD45R
pro
A leukocyte common antigen CD45 that is a translation product of a processed transcript of the PTPRC gene, that contains the region encoded by the variable exons 4(A), 5(B), and 6(C). This form represents the higher molecular weight (220 kDa form).
PMID:1351092
http://purl.org/obo/owl/PMID#PMID_1351092
CD45RABC
leukocyte common antigen CD45 isoform CD45RA
pro
A leukocyte common antigen CD45 that is a translation product of a processed transcript of the PTPRC gene, that includes the region encoded by the variable exon 4(A), and lacks the region encoded by exons 5(B),and 6(C).
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
leukocyte common antigen CD45 isoform CD45RB
pro
A leukocyte common antigen CD45 that is a translation product of a processed transcript of the PTPRC gene, that includes the region encoded by the variable exon 5(B), and lacks the region encoded by exons 4(A),and 6(C).
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
leukocyte common antigen CD45 isoform CD45RO
pro
A leukocyte common antigen CD45 that is a translation product of a processed transcript of the PTPRC gene, that lacks the region encoded by the variable exons 4(A), 5(B), and 6(C).
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
180 kDa form
CD3 subunit with immunoglobulin domain
Pfam:PF02189 "has_part Immunoreceptor tyrosine-based activation motif".nPfam:PF00047 "has_part Immunoglobulin domain".
pro
Pfam:PF02189
http://purl.org/obo/owl/Pfam#Pfam_PF02189
PIRSF:PIRSF001993
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF001993
A protein with a core domain composition consisting of an extracellular N-terminal domain that adopts an immunoglobulin fold, a transmembrane domain, and an intracellular C-terminal domain with a single copy of the immunoreceptor tyrosine-based activation motif (ITAM). It constitutes the invariant subunit of the T cell antigen receptor (TCR). TCR is a surface receptor on T cells responsible for recognizing MHC-restricted antigens and initiating the cellular immune response.
PMID:16473826
http://purl.org/obo/owl/PMID#PMID_16473826
PMID:1724736
http://purl.org/obo/owl/PMID#PMID_1724736
Pfam:PF00047
http://purl.org/obo/owl/Pfam#Pfam_PF00047
CD3 delta
pro
PANTHER:PTHR10570:SF1
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR10570:SF1
A CD3 subunit that is a translation product of the CD3D gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
CD3 epsilon
pro
A CD3 subunit that is a translation product of the CD3E gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
CD3 gamma
pro
A CD3 subunit that is a translation product of the CD3G gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
neural cell adhesion molecule
Pfam:PF00047 "has_part Immunoglobulin domain".nPfam:PF00041 "has_part Fibronectin type III domain".
pro
A protein with a domain composition consisting of a large extracellular domain, including five Ig-like C2-type domains followed by two fibronectin type-III domains, a single pass transmembrane domain and a short cytoplasmic C-terminal domain.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Pfam:PF00041
http://purl.org/obo/owl/Pfam#Pfam_PF00041
PIRSF:PIRSF002507
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF002507
Pfam:PF00047
http://purl.org/obo/owl/Pfam#Pfam_PF00047
neural cell adhesion molecule NCAM
pro
PIRSF:PIRSF501037
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF501037
A neural cell adhesion molecule which is involved in neuronal development, synaptic plasticity, and regeneration.
PMID:17975827
http://purl.org/obo/owl/PMID#PMID_17975827
neural cell adhesion molecule 1
pro
CD56
NCAM1
A neural cell adhesion molecule NCAM that is a translation product of the NCAM1 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
C-type lectin with multiple lectin domains
Pfam:PF00059 "has_part Lectin C-type domain".nPfam:PF00040 "has_part Fibronectin type II domain".
pro
Pfam:PF00040
http://purl.org/obo/owl/Pfam#Pfam_PF00040
Pfam:PF00059
http://purl.org/obo/owl/Pfam#Pfam_PF00059
A protein that is a type I transmembrane receptor with an N-terminal cysteine-rich domain, a single fibronectin type II (FNII) domain and eight to ten lectin C-type domains (CTLDs). The presence of multiple copies of the CTLD domain is a hallmark of this class.
PMID:12223280
http://purl.org/obo/owl/PMID#PMID_12223280
PIRSF:PIRSF002427
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF002427
lymphocyte antigen 75
pro
A protein that is a translation product of the LY75 gene. It consists of 12 extracellular domains (an N-terminal cysteine-rich domain, a fibronectin type II domain and 10 C-type carbohydrate recognition domains), a transmembrane region and a small cytoplasmic C terminus containing a single tyrosine residue, but no obvious kinase domain. Acts as an endocytic receptor to direct captured antigens from the extracellular space to a specialized antigen-processing compartment.
PMID:9862343
http://purl.org/obo/owl/PMID#PMID_9862343
CD205 antigen
gp200-MR6
CD247
Pfam:PF02189 "has_part Immunoreceptor tyrosine-based activation motif".
pro
A protein consisting of an extracellular short N-terminal domain, a transmembrane domain, and an intracellular C-terminal domain with two to three copies of the immunoreceptor tyrosine-based activation motif (ITAM). It is a translation product of the CD247 gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF028738
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF028738
Pfam:PF02189
http://purl.org/obo/owl/Pfam#Pfam_PF02189
CD3
CD247 isoform CD3 eta
pro
CD-3-eta
A CD247 that is a translation product of a processed transcript of the CD247 gene, that contains two copies of the ITAM domain. It has a longer and disctinct C-terminus compared to isoform CD3 zeta, as in the mouse sequence UniProtKB:P29020-1.
PMID:2150596
http://purl.org/obo/owl/PMID#PMID_2150596
CD247 isoform CD3 zeta
pro
A CD3 that is a translation product of a processed transcript of the CD247 gene, that contains three copies of the ITAM domain. It has a shorter and disctinct C-terminus compared to isoform CD3 eta, as in the mouse sequence UniProtKB:P24161-1.
PMID:2150596
http://purl.org/obo/owl/PMID#PMID_2150596
CD-3-zeta
TCRZ
CD3Z
erm protein
pro
A protein that contain 3 domains, an N-terminal globular domain, an extended alpha-helical domain, and a charged C-terminal domain. Ezrin, radixin and merlin also contain a polyproline region between the helical and C-terminal domains. The N-terminal domain is highly conserved, and is also found in merlin, band 4.1 proteins and members of the band 4.1 superfamily. ERM proteins are involved in crosslinking actin filaments with plasma membranes.
Interpro:IPR011259
http://purl.org/obo/owl/Interpro#Interpro_IPR011259
PIRSF:PIRSF002305
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF002305
ezrin
pro
villin-2
p81
cytovillin
VIL2
A protein that is a translation product of the EZR gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
ezrin isoform 1
pro
An ezrin that is a translation product of a processed transcript of the EZR gene, represented by the human sequence UniProtKB:P15311-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
ezrin isoform 1 phosphorylated form
pro
An ezrin isoform 1 that has been post-translationally modified to include a phosphorylated residue.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
ezrin isoform 1 phosphorylated 1
pro
An ezrin phosphorylated form that has been phosphorylated after EGF stimulation. Example:UniProtKB:P15311-1, has_modification MOD:00048:O4'-phosphorylated L-tyrosine, Tyr-146/Tyr-354.
PMID:1382070
http://purl.org/obo/owl/PMID#PMID_1382070
ezrin isoform 1 phosphorylated 2
pro
An ezrin phosphorylated form that has been phosphorylated by protein kinase A (PKA). Example:UniProtKB:P15311-1, has_modification MOD:00046:O-phosphorylated L-serine, Ser-66.
PMID:12840026
http://purl.org/obo/owl/PMID#PMID_12840026
PMID:16438931
http://purl.org/obo/owl/PMID#PMID_16438931
PhosphoSitePlus:http://www.phosphosite.org/siteAction.do?id=28933
http://purl.org/obo/owl/PhosphoSitePlus#PhosphoSitePlus_http://www.phosphosite.org/siteAction.do?id=28933
ww domain-containing oxidoreductase
New.
pro
A protein that is a translation product of the WWOX gene.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PIRSF:PIRSF038706
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF038706
Wox1
EC 1.1.1.-
PANTHER:PTHR19410:SF99
http://purl.org/obo/owl/PANTHER#PANTHER_PTHR19410:SF99
ww domain-containing oxidoreductase isoform 1
pro
A ww domain-containing oxidoreductase that is a translation product of a processed transcript of the WWOX gene, represented by the human sequence UniProtKB:Q9NZC7-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
WWOX v8
WWOXv1
FOR2
FOR II
Wox1
ezrin isoform 1 phosphorylated 3
pro
An ezrin phosphorylated form that has been phosphorylated in the first Tyr residue within the ITAM-like motif EYLKIAQDLEMYGINYFEI. Example:UniProtKB:P15311-1, has_modification MOD:00048:O4'-phosphorylated L-tyrosine, Tyr-191.
PMID:9052872
http://purl.org/obo/owl/PMID#PMID_9052872
PMID:15647376
http://purl.org/obo/owl/PMID#PMID_15647376
ezrin isoform 1 phosphorylated 4
pro
An ezrin phosphorylated form that has been phosphorylated both in a Tyr residue within the FERM central domain, and the first Tyr residue within the ITAM-like motif EYLKIAQDLEMYGINYFEI. Example:UniProtKB:P15311-1, has_modification MOD:00048:O4'-phosphorylated L-tyrosine, Tyr-146/Tyr-191, has_modification MOD:00047 O-phosphorylated L-threonine, Thr-565.
PMID:15647376
http://purl.org/obo/owl/PMID#PMID_15647376
ezrin isoform 1 phosphorylated 5
pro
An ezrin phosphorylated form that has been phosphorylated at a Ser residue located within the C-terminal domain. Example:UniProtKB:P15311-1, has_modification MOD:00047 O-phosphorylated L-threonine, Thr-567.
PMID:16144865
http://purl.org/obo/owl/PMID#PMID_16144865
ezrin-radixin-moesin-binding phosphoprotein 50
pro
sodium-hydrogen exchanger regulatory factor 1
NHERF
solute carrier family 9 isoform A3 regulatory factor 1
EBP50
Na(+)/H(+) exchange regulatory cofactor NHE-RF
A Na(+)/H(+) exchange regulatory cofactor with ERM-binding domain that is a translation product of the SLC9A3R1 gene. It contains two copies of the PDZ domain at the N-terminus and a EBP50 domain at the C-terminus. The latter allows interaction with FERM domains, resulting in the activation of ERM proteins (PRO:000001030), with subsequent cytoskeletal modulation and cellular growth control.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
ezrin-radixin-moesin-binding phosphoprotein 50 isoform 1
pro
An ezrin-radixin-moesin-binding phosphoprotein 50 that is a translation product of a processed transcript of the SLC9A3R1 gene, represented by the human sequence UniProtKB:O14745-1.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Na(+)/H(+) exchange regulatory cofactor with ERM-binding domain
pro
A protein that consists of two copies of the PDZ domain and a copy of the EBP50 C-terminal domain.
PMID:15905209
http://purl.org/obo/owl/PMID#PMID_15905209
NHERF
PIRSF:PIRSF037866
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF037866
cystic fibrosis transmembrane conductance regulator (cftr)
pro
cAMP-dependent chloride channel
CFTR
PIRSF:PIRSF002777
http://purl.org/obo/owl/PIRSF#PIRSF_PIRSF002777
A protein that is a translational product of the CFTR gene. Involved in the transport of chloride ions. The characteristic domain composition of the functional isoform consists of two modules of a membrane-spanning domain (ABC transporter transmembrane region) followed by a nucleotide-binding domain (ABC transporter domains), separated by an intracellular regulatory domain (R-domain). It also contains a C-terminal PDZ-binding region. The R-domain is an inhibitory domain of CFTR,nand phosphorylation of the R-domain removes this inhibition, allowing activation of chloride flux.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:9922375
http://purl.org/obo/owl/PMID#PMID_9922375
ABCC7
ATP-binding cassette transporter sub-family C member 7
cftr isoform 1
pro
A cystic fibrosis transmembrane conductance regulator that is a translation product of a processed transcript of the CFTR gene, represented by the human sequence UniProtKB:P13569-1. This form represents the normal or wild type protein and is composed of two modules of a membrane-spanning domain (ABC transporter transmembrane region) followed by a nucleotide-binding domain (ABC transporter domains), separated by an intracellular regulatory domain (R-domain). It also contains a C-terminal PDZ-binding region. The R-domain is an inhibitory domain of CFTR,nand phosphorylation of the R-domain removes this inhibition, allowing activation of chloride flux.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
PMID:9922375
http://purl.org/obo/owl/PMID#PMID_9922375
cystic fibrosis transmembrane conductance regulator isoform 1
cftr isoform 2
In humans, the allelic variant known as 5T generates reduced levelsof isoform 1, but increased levels of this form, which causes congenital bilaterial aplasia of the vas deference in males.
pro
A cystic fibrosis transmembrane conductance regulator that is a translation product of a processed transcript of the CFTR gene, represented by the human sequence UniProtKB:P13569-2. This form, generated by exon skipping, lacks a region of about 60 residues including part of the N-terminus of the first ABC transporter domain.
PMID:10766763
http://purl.org/obo/owl/PMID#PMID_10766763
OMIM:277180
http://purl.org/obo/owl/OMIM#OMIM_277180
cftr isoform 3
In human, mutations within the ESE region in exon 13 generate this form and causes of cystic fibrosis (CF).
pro
A cystic fibrosis transmembrane conductance regulator that is a translation product of a processed transcript of the CFTR gene, represented by the human sequence UniProtKB:P13569-3. This isoform is generated by usage of a cryptic 3' splice site within an exonic splicing enhancer (ESE) region, leading to a frameshift and a protein truncation within the first ABC transporter domain.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
Delta248
cftr isoform 1 glycosylated form
pro
A cftr isoform 1 that has been post-translationally modified to include glycosylated residues.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
cftr isoform 1 glycosylated 1
pro
A cftr isoform 1 glycosylates form glycosylated at two Asn residues, within the N{P}[ST]{P} motif, located in the fourth extracellular loop. Example: UniProtKB:P13569-1, has_modification MOD:00160 N4-glycosyl-L-asparagine, Asn-894/Asn-900.
PMID:7518437
http://purl.org/obo/owl/PMID#PMID_7518437
cftr isoform 1 phosphorylated form
pro
cftr isoform 1 phosphorylated 1
pro
cftr PKA phosphorylated form
A cftr isoform 1 phosphorylated form that has been phosphorylated at multiple Ser and/or Thr residues within the PKA consensus sites R[RK]x [ST] located in the regulatory domain (R-domain). This is an active form. Example: UniProtKB: P13569-1, has_modification MOD:00046 O-phosphorylated L-serine, Ser-737/Ser-813/Ser-768/Ser- 795.
PMID:1377674
http://purl.org/obo/owl/PMID#PMID_1377674
PMID:14602047
http://purl.org/obo/owl/PMID#PMID_14602047
cftr isoform 1 phosphorylated 2
pro
A cftr isoform 1 phosphorylated form that has been phosphorylated by PKA and PKC at multiple Ser and/or Thr residues within the regulatory domain (R-domain). This is an active form. Example: UniProtKB: P13569-1, has_modification MOD:00046 O-phosphorylated L-serine, Ser-686/Ser-737/Ser-790/Ser-813/Ser-768/Ser-795.
PMID:1377674
http://purl.org/obo/owl/PMID#PMID_1377674
ww domain-containing oxidoreductase isoform 2
pro
FOR I)
FOR1
A ww domain-containing oxidoreductase that is a translation product of a processed transcript of the WWOX gene, represented by the human sequence UniProtKB:Q9NZC7-2.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
WOX2
WWOXv2
ww domain-containing oxidoreductase isoform 3
pro
wox3
FOR3
FOR III
A ww domain-containing oxidoreductase that is a translation product of a processed transcript of the WWOX gene, represented by the human sequence UniProtKB:Q9NZC7-3. This form lacks the C-terminal short chain dehydrogenase domain.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
ww domain-containing oxidoreductase isoform 4
pro
FOR IV
A ww domain-containing oxidoreductase that is a translation product of a processed transcript of the WWOX gene, represented by the human sequence UniProtKB:Q9NZC7-4. This is form that is truncated within the first ww domain, and is about 37 residues long.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA
ww domain-containing oxidoreductase isoform 5
This form has been found in cancer tissues in humans [PMID:11719429].
pro
WWOXdelta6-8
A ww domain-containing oxidoreductase that is a translation product of a processed transcript of the WWOX gene, represented by the human sequence UniProtKB:Q9NZC7-5. This form lacks the short chain dehydrogenase domain but includes the rest of the C-terminal sequence.
PMID:11719429
http://purl.org/obo/owl/PMID#PMID_11719429
WWOXv4
ww domain-containing oxidoreductase isoform 6
pro
A ww domain-containing oxidoreductase that is a translation product of a processed transcript of the WWOX gene, represented by the human sequence UniProtKB:Q9NZC7-6. This form contains an alternative sequence after the two ww domains and the predicted nucleotide binding site, as compared to isoform 1. Originated by exons deletions and frameshift.
PMID:11719429
http://purl.org/obo/owl/PMID#PMID_11719429
WWOXdelta5-8
ezrin-radixin-moesin-binding phosphoprotein 50 isoform 2
pro
An ezrin-radixin-moesin-binding phosphoprotein 50 that is a translation product of a processed transcript of the SLC9A3R1 gene, represented by the mouse sequence UniProtKB:P70441-2. This form lacks the N-terminal region containing the first PDZ domain.
PRO:CNA
http://purl.org/obo/owl/PRO#PRO_CNA