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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 Compact View   

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

Comp. In Complex?
gene


PR:000000281
growth/differentiation factor 5
GDF5
"A growth/differentiation factor that is a translation product of the human GDF5 gene or a 1:1 ortholog thereof." [PRO:CNA]
Yes
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
organism-gene


PR:P43027
growth/differentiation factor 5 (mouse)
mGDF5
"A growth/differentiation factor 5 that is encoded in the genome of mouse." [OMA:P43027, PRO:DNx]

organism-sequence


PR:000000441
growth/differentiation factor 5 sequence variant 5 (mouse)
mGDF5/var:5
"A growth/differentiation factor 5 (mouse) that has a frameshift at the position equivalent to residue 376 of the amino acid sequence represented by UniProtKB:P43027." [PMID:8145850, PRO:CNA, PRO:DAN]
Yes
organism-sequence


PR:000036417
growth/differentiation factor 5 sequence variant V186* (mouse)
mGDF5/var:V186*
"A growth/differentiation factor 5 (mouse) that has a polypeptide truncation after the position equivalent to residue 185 of the amino acid sequence represented by UniProtKB:P43027. UniProtKB:P43027, 1-185." [PMID:8145850, PRO:CNA]
Yes
organism-sequence


PR:P43027-1
growth/differentiation factor 5 isoform 1 (mouse)
mGDF5/iso:1
"A growth/differentiation factor 5 isoform 1 that is encoded in the genome of mouse." [PRO:CNA]

organism-gene


PR:Q5KSY1
growth and differentiation factor-5 (rat)
rGDF5
"A growth/differentiation factor 5 that is encoded in the genome of rat." [PANTHER:PTHR11848:SF44, PRO:DNx]

sequence


PR:000000436
growth/differentiation factor 5 isoform 1
GDF5/iso:1
"A growth/differentiation factor 5 that is a translation product of some mRNA whose exon structure and start site selection renders it capable of giving rise to a protein with the amino acid sequence represented by UniProtKB:P43026-1 or a 1:1 ortholog thereof." [PRO:CNA, PRO:DAN]

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-sequence


PR:P43027-1
growth/differentiation factor 5 isoform 1 (mouse)
mGDF5/iso:1
"A growth/differentiation factor 5 isoform 1 that is encoded in the genome of mouse." [PRO:CNA]

modification


PR:000021914
growth/differentiation factor 5 isoform 1, signal peptide removed form
GDF5/iso:1/SigPep-
"A growth/differentiation factor 5 isoform 1 that has had the signal peptide removed." [PRO:DNx]

modification


PR:000000640
growth/differentiation factor 5 isoform 1 mature form
GDF5/iso:1/mature
"A growth/differentiation factor 5 isoform 1, signal peptide removed form that has been processed by subsequent removal of the propeptide. The functional unit is a dimer." [PMID:8962721, PRO:CNA]

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
modification


PR:000021929
growth/differentiation factor 5 proteolytic cleavage product
GDF5/ClvPrd
"A growth/differentiation factor 5 that has been processed by proteolytic cleavage." [PRO:DAN]

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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000281 GDF5 acts_upstream_of_or_withinGO:0030326 embryonic limb morphogenesis PANTHER:PTHR11848
PR:000000437 hGDF5/var:C400Y
UniProtKB:P43026, Cys-400, CHEBI:46858		 associated_with_disease_progressionDO:0080052 acromesomelic dysplasia, Grebe type UniProtKB_VAR:VAR_017407
enablesGO:0005515 protein binding with PR:000000164 BMP-2 PMID:9288098
NOT GO:0008083 growth factor activity PMID:9288098
located_inGO:0005622 intracellular anatomical structure PMID:9288098
PR:000000438 hGDF5/var:R438L
UniProtKB:P43026, Arg-438, CHEBI:30006		 associated_with_disease_progressionDO:0050794 multiple synostoses syndrome PMID:16532400
located_inGO:0005615 extracellular space PMID:16532400
PR:000000439 hGDF5/var:L441P
UniProtKB:P43026, Leu-441, CHEBI:50342		 associated_with_disease_progressionDO:0050790 fibular hypoplasia and complex brachydactyly UniProtKB_VAR:VAR_017408
PR:000000441 mGDF5/var:5 associated_with_disease_progressionMP:0006279 abnormal limb development PMID:8145850
PR:000036417 mGDF5/var:V186*
UniProtKB:P43027, 1-185		 associated_with_disease_progressionMP:0006279 abnormal limb development PMID:8145850
located_inSO:0001587 stop_gained PMID:8145850
PR:000036543 hGDF5/iso:1/mature
UniProtKB:P43026-1, 382-501		 enablesGO:0005102 signaling receptor binding PMID:15752764; PMID:15890363
GO:0005515 protein binding PMID:9288098
GO:0008083 growth factor activity PMID:8589725
GO:0042803 protein homodimerization activity PMID:15752764; PMID:8962721
located_inGO:0005615 extracellular space PMID:16532400
PR:P43026-1 hGDF5/iso:1 acts_upstream_of_or_withinGO:0007179 transforming growth factor beta receptor signaling pathway PMID:7961761
GO:0007267 cell-cell signaling PMID:8589725