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Protein Ontology report - growth/differentiation factor 5
PR:000000281 - http://purl.obolibrary.org/obo/PR_000000281
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza / PAF
  PRO ID
PR:000000281   
  PRO namegrowth/differentiation factor 5 
  Synonyms
PRO-Short-label: EXACT:GDF5
Gene-based: RELATED:BMP14 | Bp | CDMP1
Other: EXACT:BMP-14 | bone morphogenetic protein 14 | cartilage-derived morphogenetic protein 1 | CDMP-1 | GDF-5 | 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 Categorygene 
  ParentPR:000000098 growth/differentiation factor
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Gene1                                                  Organism-Gene 3                                        
         Sequence1                                                  Organism-Sequence 7                                        
         Modification3                                                  Organism-Modification 2                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Short Name
Ann. Has Annotation?

comp. In Complex?
gene


PR:000000281 growth/differentiation factor 5
GDF5
Yes
organism-gene


PR:P43026 growth/differentiation factor 5 (human)
hGDF5

organism-sequence


PR:000000437 growth/differentiation factor 5 sequence variant C400Y (human)
hGDF5/var:C400Y
Yes
organism-sequence


PR:000000438 growth/differentiation factor 5 sequence variant R438L (human)
hGDF5/var:R438L
Yes
organism-sequence


PR:000000439 growth/differentiation factor 5 sequence variant L441P (human)
hGDF5/var:L441P
Yes
organism-sequence


PR:P43026-1 growth/differentiation factor 5 isoform 1 (human)
hGDF5/iso:1
Yes
organism-modification


PR:000036543 growth/differentiation factor 5 isoform 1 cleaved 1 (human)
hGDF5/iso:1/Clv:1
Yes
organism-modification


PR:000047523 growth/differentiation factor 5, signal peptide removed form (human)
hGDF5/SigPep-

organism-modification


PR:000036543 growth/differentiation factor 5 isoform 1 cleaved 1 (human)
hGDF5/iso:1/Clv:1
Yes
organism-gene


PR:P43027 growth/differentiation factor 5 (mouse)
mGDF5

organism-sequence


PR:000000441 growth/differentiation factor 5 sequence variant 5 (mouse)
mGDF5/var:5
Yes
organism-sequence


PR:000036417 growth/differentiation factor 5 sequence variant V186* (mouse)
mGDF5/var:V186*
Yes
organism-sequence


PR:P43027-1 growth/differentiation factor 5 isoform 1 (mouse)
mGDF5/iso:1

organism-gene


PR:Q5KSY1 growth and differentiation factor-5 (rat)
rGDF5

sequence


PR:000000436 growth/differentiation factor 5 isoform 1
GDF5/iso:1

organism-sequence


PR:P43026-1 growth/differentiation factor 5 isoform 1 (human)
hGDF5/iso:1
Yes
organism-modification


PR:000036543 growth/differentiation factor 5 isoform 1 cleaved 1 (human)
hGDF5/iso:1/Clv:1
Yes
organism-sequence


PR:P43027-1 growth/differentiation factor 5 isoform 1 (mouse)
mGDF5/iso:1

modification


PR:000021914 growth/differentiation factor 5 isoform 1, signal peptide removed form
GDF5/iso:1/SigPep-

modification


PR:000000640 growth/differentiation factor 5 isoform 1 cleaved 1
GDF5/iso:1/Clv:1

organism-modification


PR:000036543 growth/differentiation factor 5 isoform 1 cleaved 1 (human)
hGDF5/iso:1/Clv:1
Yes
modification


PR:000021929 growth/differentiation factor 5 proteolytic cleavage product
GDF5/ClvPrd

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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
GO:0030326 embryonic limb morphogenesisPR:000000281 GDF5 PANTHER:PTHR11848

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
MP:0006279 abnormal limb developmentPR:000000441 mGDF5/var:5 PMID:8145850
PR:000036417 mGDF5/var:V186* PMID:8145850

Molecular Function GO Term
Protein Forms & Complexes
Evidence
GO:0005102 signaling receptor bindingPR:000036543 hGDF5/iso:1/Clv:1 PMID:15752764; PMID:15890363
GO:0005515 protein bindingPR:000000437 hGDF5/var:C400Y PMID:9288098
PR:000036543 hGDF5/iso:1/Clv:1 PMID:9288098
GO:0008083 growth factor activityPR:000036543 hGDF5/iso:1/Clv:1 PMID:8589725
NOT GO:0008083 growth factor activityPR:000000437 hGDF5/var:C400Y PMID:9288098
GO:0042803 protein homodimerization activityPR:000036543 hGDF5/iso:1/Clv:1 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/Clv:1 PMID:16532400
GO:0005622 intracellular anatomical structurePR:000000437 hGDF5/var:C400Y PMID:9288098
SO:0001587 stop_gainedPR:000036417 mGDF5/var:V186* PMID:8145850