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Protein Ontology Report - GDF5

PR:000000281 - http://purl.obolibrary.org/obo/PR_000000281
Ontology Information
PRO ID PR:000000281 Show OBO stanza / PAF
PRO name growth/differentiation factor 5
Synonyms
PRO-short-label: EXACT: GDF5
Gene-based: RELATED: BMP14 | Bp | CDMP1
Other: EXACT: BMP-14 | CDMP-1 | GDF-5 | bone morphogenetic protein 14 | cartilage-derived morphogenetic protein 1 | radotermin
Definition A growth/differentiation factor that is a translation product of the human GDF5 gene or a 1:1 ortholog thereof. [PRO:CNA]
PRO Category gene
Parent PR:000000098 growth/differentiation factor
Terms by PRO Category Retrieve All terms OBO Stanza / PAF
Organism-Independent Organism-Specific
Category Number of Terms Category Number of Terms
gene 1 organism-gene 3
sequence 1 organism-sequence 7
modification 3 organism-modification 2
union 0
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

Protein Forms
PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation
PRO Term GO Annotation Evidence
PR:000000441
mGDF5/var:5
associated_with_disease_progression MP:0006279 abnormal limb development PMID:8145850
PR:000000437
hGDF5/var:C400Y
Cys-400, CHEBI:46858 		associated_with_disease_progression DOID:0080052 acromesomelic dysplasia, Grebe type UniProtKB_VAR:VAR_017407
enables GO:0005515 protein binding with PR:000000164 BMP2 PMID:9288098
enables NOT GO:0008083 growth factor activity PMID:9288098
located_in GO:0005622 intracellular anatomical structure PMID:9288098
PR:000000281
GDF5
acts_upstream_of_or_within GO:0030326 embryonic limb morphogenesis PANTHER:PTHR11848:SF44
PR:000036417
mGDF5/var:V186*
associated_with_disease_progression MP:0006279 abnormal limb development PMID:8145850
has_agent SO:0001587 stop_gained PMID:8145850
PR:000000439
hGDF5/var:L441P
Leu-441, CHEBI:50342 		associated_with_disease_progression DOID:0050790 fibular hypoplasia and complex brachydactyly UniProtKB_VAR:VAR_017408
PR:000000438
hGDF5/var:R438L
Arg-438, CHEBI:30006 		associated_with_disease_progression DOID:0050794 multiple synostoses syndrome PMID:16532400
located_in GO:0005615 extracellular space PMID:16532400
PR:P43026-1
hGDF5/iso:1
acts_upstream_of_or_within GO:0007179 transforming growth factor beta receptor signaling pathway PMID:7961761
acts_upstream_of_or_within GO:0007267 cell-cell signaling PMID:8589725
PR:000036543
hGDF5/iso:1/Clv:1
enables GO:0008083 growth factor activity PMID:8589725
enables GO:0005515 protein binding with PR:P12643 hBMP2 PMID:9288098
enables GO:0005102 signaling receptor binding PMID:15752764, PMID:15890363
enables GO:0042803 protein homodimerization activity PMID:15752764, PMID:8962721
located_in GO:0005615 extracellular space PMID:16532400
Cellular Location GO Term Protein Forms & Complexes Evidence
GO:0005622 intracellular anatomical structure PR:000000437 hGDF5/var:C400Y
Cys-400, CHEBI:46858
PMID:9288098
GO:0005615 extracellular space PR:000000438 hGDF5/var:R438L
Arg-438, CHEBI:30006
PMID:16532400
PR:000036543 hGDF5/iso:1/Clv:1

PMID:16532400

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