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Protein Ontology report - TGF-beta 1 sequence variant H222D (human)
PR:000000402 - http://purl.obolibrary.org/obo/PR_000000402
 
  Protein Forms  Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000402   
  PRO nameTGF-beta 1 sequence variant H222D (human) 
  Synonyms
PRO-Short-label: EXACT:hTGFB1/var:H222D
PRO-proteoform-std: EXACT:UniProtKB:P01137, His-222, CHEBI:29958
Other: EXACT:TGF-beta 1 sequence variant 5 (human)
  Definition"A transforming growth factor beta-1 (human) that has an Asp residue at the position equivalent to His-222 of the amino acid sequence represented by UniProtKB:P01137. UniProtKB:P01137, His-222, CHEBI:29958." [PMID:12493741, 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_017610
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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:000000402 TGF-beta 1 sequence variant H222D (human)

hTGFB1/var:H222D

Yes

organism-modification



PR:000021905 TGF-beta 1 sequence variant H222D, signal peptide removed form (human)

hTGFB1/var:H222D/SigPep-


organism-modification



PR:000000623 TGF-beta 1 sequence variant H222D cleaved 1 (human)

hTGFB1/var:H222D/Clv:1

Yes

organism-modification



PR:000000624 TGF-beta 1 sequence variant H222D cleaved 2 (human)

hTGFB1/var:H222D/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:000000402 hTGFB1/var:H222D PMID:12493741
PR:000000623 hTGFB1/var:H222D/Clv:1 PMID:12493741
GO:0043066 negative regulation of apoptotic processPR:000000402 hTGFB1/var:H222D PMID:12493741
PR:000000623 hTGFB1/var:H222D/Clv:1 PMID:12493741

Disease Associated GO Term

Protein Forms & Complexes

Evidence
DO:4997 Camurati-Engelmann diseasePR:000000402 hTGFB1/var:H222D PMID:12493741

Molecular Function GO Term

Protein Forms & Complexes

Evidence
GO:0008083 growth factor activityPR:000000623 hTGFB1/var:H222D/Clv:1 PMID:12493741

Cellular Location GO Term

Protein Forms & Complexes

Evidence
GO:0005615 extracellular spacePR:000000623 hTGFB1/var:H222D/Clv:1 PMID:12493741
SO:0001561 polypeptide_partial_loss_of_functionPR:000000624 hTGFB1/var:H222D/Clv:2 PMID:11278244
SO:0001601 conformational_change_variantPR:000000624 hTGFB1/var:H222D/Clv:2 PMID:11278244