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Protein Ontology report - growth/differentiation factor 5 (human)
PR:P43026 - http://purl.obolibrary.org/obo/PR_P43026
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:P43026   
  PRO namegrowth/differentiation factor 5 (human) 
  Synonyms
PRO-Short-label: EXACT:hGDF5
Gene-based: RELATED:BMP14 | CDMP1 | GDF5
Other: EXACT:BMP-14 (human) | bone morphogenetic protein 14 (human) | cartilage-derived morphogenetic protein 1 (human) | CDMP-1 (human) | GDF-5 (human) | LAP-4 (human) | lipopolysaccharide-associated protein 4 (human) | LPS-associated protein 4 (human) | radotermin (human)
  Definition"A growth/differentiation factor 5 that is encoded in the genome of human." [PRO:CNA, UniProtKB:P43026] 
  PRO Categoryorganism-gene 
  ParentPR:000000281 growth/differentiation factor 5
PR:000029067 Homo sapiens protein
  Gene TemplateHGNC:4220 GDF5 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene0                                                  Organism-Gene 1                                        
         Sequence0                                                  Organism-Sequence 4                                        
         Modification0                                                  Organism-Modification 2                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB:P43026
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Protein Forms Switch to Compact View   

Category  
PRO ID
Name
Short Name
Definition
Ann. Has Annotation?

Comp. In Complex?
organism-gene


PR:P43026
growth/differentiation factor 5 (human)
hGDF5
"A growth/differentiation factor 5 that is encoded in the genome of human." [PRO:CNA, UniProtKB:P43026]

organism-sequence


PR:000000437
growth/differentiation factor 5 sequence variant C400Y (human)
hGDF5/var:C400Y
"A growth/differentiation factor 5 (human) that has a Tyr residue at the position equivalent to Cys-400 of the amino acid sequence represented by UniProtKB:P43026. UniProtKB:P43026, Cys-400, CHEBI:46858." [PMID:9288098, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000438
growth/differentiation factor 5 sequence variant R438L (human)
hGDF5/var:R438L
"A growth/differentiation factor 5 (human) that has a Leu residue at the position equivalent to Arg-438 of the amino acid sequence represented by UniProtKB:P43026. UniProtKB:P43026, Arg-438, CHEBI:30006." [PMID:16532400, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000000439
growth/differentiation factor 5 sequence variant L441P (human)
hGDF5/var:L441P
"A growth/differentiation factor 5 (human) that has a Pro residue at the position equivalent to Leu-441 of the amino acid sequence represented by UniProtKB:P43026. UniProtKB:P43026, Leu-441, CHEBI:50342." [PMID:12121354, PMID:16127465, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:P43026-1
growth/differentiation factor 5 isoform 1 (human)
hGDF5/iso:1
"A growth/differentiation factor 5 isoform 1 that is encoded in the genome of human." [PRO:CNA]
Yes
organism-modification


PR:000036543
growth/differentiation factor 5 isoform 1 mature form (human)
hGDF5/iso:1/mature
"A growth/differentiation factor 5 isoform 1 mature form in human. UniProtKB:P43026-1, 382-501." [PMID:15752764, PMID:15890363, PMID:16532400, PMID:8589725, PMID:8962721, PMID:9288098, PRO:CNA]
Yes
organism-modification


PR:000047523
growth/differentiation factor 5, signal peptide removed form (human)
hGDF5/SigPep-
"A growth/differentiation factor 5 (human) that has had the signal peptide removed. UniProtKB:P43026, 28-501." [PRO:DNx, Reactome:R-HSA-2396129]

organism-modification


PR:000036543
growth/differentiation factor 5 isoform 1 mature form (human)
hGDF5/iso:1/mature
"A growth/differentiation factor 5 isoform 1 mature form in human. UniProtKB:P43026-1, 382-501." [PMID:15752764, PMID:15890363, PMID:16532400, PMID:8589725, PMID:8962721, PMID:9288098, PRO:CNA]
Yes
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Functional Annotation (GO-centric view) Switch to PRO Centric View     

Biological Process GO Term
Protein Forms & Complexes
Evidence
GO:0007179 transforming growth factor beta receptor signaling pathwayPR:P43026-1 hGDF5/iso:1 PMID:7961761
GO:0007267 cell-cell signalingPR:P43026-1 hGDF5/iso:1 PMID:8589725

Disease Associated GO Term
Protein Forms & Complexes
Evidence
DO:0050790 fibular hypoplasia and complex brachydactylyPR:000000439 hGDF5/var:L441P UniProtKB_VAR:VAR_017408
DO:0050794 multiple synostoses syndromePR:000000438 hGDF5/var:R438L PMID:16532400
DO:0080052 acromesomelic dysplasia, Grebe typePR:000000437 hGDF5/var:C400Y UniProtKB_VAR:VAR_017407

Molecular Function GO Term
Protein Forms & Complexes
Evidence
GO:0005102 signaling receptor bindingPR:000036543 hGDF5/iso:1/mature PMID:15752764; PMID:15890363
GO:0005515 protein bindingPR:000000437 hGDF5/var:C400Y PMID:9288098
PR:000036543 hGDF5/iso:1/mature PMID:9288098
GO:0008083 growth factor activityPR:000036543 hGDF5/iso:1/mature PMID:8589725
NOT GO:0008083 growth factor activityPR:000000437 hGDF5/var:C400Y PMID:9288098
GO:0042803 protein homodimerization activityPR:000036543 hGDF5/iso:1/mature PMID:15752764; PMID:8962721

Cellular Location GO Term
Protein Forms & Complexes
Evidence
GO:0005615 extracellular spacePR:000000438 hGDF5/var:R438L PMID:16532400
PR:000036543 hGDF5/iso:1/mature PMID:16532400
GO:0005622 intracellular anatomical structurePR:000000437 hGDF5/var:C400Y PMID:9288098