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Protein Ontology report - TGF-beta 1 sequence variant R218C (human)
PR:000000400 - http://purl.obolibrary.org/obo/PR_000000400
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000400   
  PRO nameTGF-beta 1 sequence variant R218C (human) 
  Synonyms
PRO-Short-label: EXACT:hTGFB1/var:R218C
PRO-proteoform-std: EXACT:UniProtKB:P01137, Arg-218, CHEBI:29950
Other: EXACT:TGF-beta 1 sequence variant 3 (human)
  Definition"A transforming growth factor beta-1 (human) that has a Cys residue at the position equivalent to Arg-218 of the amino acid sequence represented by UniProtKB:P01137. UniProtKB:P01137, Arg-218, CHEBI:29950." [PMID:10973241, PMID:11062463, PMID:12493741, PMID:12843182, PRO:CNA, PRO:DAN] 
  PRO Categoryorganism-sequence 
  ParentPR:P01137 transforming growth factor beta-1 (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Terms by PRO Category
Organism-Independent Organism-Specific
         Category          Number of Terms          Category          Number of Terms
         Sequence0                                                  Organism-Sequence 1                                        
         Modification0                                                  Organism-Modification 3                                        
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB_VAR:VAR_017608
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Protein Forms  Switch to Extended View   

Category  
PRO Form Name
Short Name
Ann. Has Annotation?

comp. In Complex?
organism-sequence


PR:000000400 TGF-beta 1 sequence variant R218C (human)
hTGFB1/var:R218C
Yes
organism-modification


PR:000021904 TGF-beta 1 sequence variant R218C, signal peptide removed form (human)
hTGFB1/var:R218C/SigPep-

organism-modification


PR:000000621 TGF-beta 1 sequence variant R218C cleaved 1 (human)
hTGFB1/var:R218C/Clv:1
Yes
organism-modification


PR:000000622 TGF-beta 1 sequence variant R218C cleaved 2 (human)
hTGFB1/var:R218C/Clv:2
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:000000400 hTGFB1/var:R218C PMID:12843182
PR:000000621 hTGFB1/var:R218C/Clv:1 PMID:11062463; PMID:12493741; PMID:12843182
GO:0043066 negative regulation of apoptotic processPR:000000400 hTGFB1/var:R218C PMID:11062463; PMID:12493741; PMID:12843182

Disease Associated GO Term
Protein Forms & Complexes
Evidence
DO:4997 Camurati-Engelmann diseasePR:000000400 hTGFB1/var:R218C PMID:10973241; PMID:11062463; PMID:12493741; PMID:12843182

Molecular Function GO Term
Protein Forms & Complexes
Evidence
GO:0005160 transforming growth factor beta receptor bindingPR:000000621 hTGFB1/var:R218C/Clv:1 PMID:11278244
GO:0008083 growth factor activityPR:000000400 hTGFB1/var:R218C PMID:11062463; PMID:12493741; PMID:12843182
PR:000000621 hTGFB1/var:R218C/Clv:1 PMID:11062463; PMID:12493741; PMID:12843182
GO:0042803 protein homodimerization activityPR:000000621 hTGFB1/var:R218C/Clv:1 PMID:11062463; PMID:12493741; PMID:12843182

Cellular Location GO Term
Protein Forms & Complexes
Evidence
GO:0005615 extracellular spacePR:000000621 hTGFB1/var:R218C/Clv:1 PMID:11062463; PMID:12493741; PMID:12843182
SO:0001561 polypeptide_partial_loss_of_functionPR:000000622 hTGFB1/var:R218C/Clv:2 PMID:11278244