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Protein Ontology report - CREB-binding protein sequence variant R1378P (human)
PR:000000266 - http://purl.obolibrary.org/obo/PR_000000266
 
    Annotations      
Ontology Information Show OBO stanza / PAF / GPI
  PRO ID
PR:000000266   
  PRO nameCREB-binding protein sequence variant R1378P (human) 
  Synonyms
PRO-Short-label: EXACT:hCREBBP/var:R1378P
PRO-proteoform-std: EXACT:UniProtKB:Q92793, Arg-1378, CHEBI:50342
NARROW:UniProtKB:Q92793-1, Arg-1378, CHEBI:50342
Other: EXACT:CREB-binding protein sequence variant 1 (human)
  Definition"A CREB-binding protein (human) that has a Pro residue at the position equivalent to Arg-1378 of the amino acid sequence represented by UniProtKB:Q92793-1. Example: UniProtKB:Q92793-1, Arg-1378, CHEBI:50342." [PMID:11331617, PRO:CNA, PRO:DAN] 
  PRO Categoryorganism-sequence 
  ParentPR:Q92793 CREB-binding protein (human)
  TaxonNCBITaxon:9606 Homo sapiens
  Term Hierarchy
  Visualization
DAG: OLS:
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Related Cross References

  Db identifiers
UniProtKB_VAR:VAR_015578
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Functional Annotation (PRO-centric view) Switch to GO Centric View   
PRO Term GO Annotation Evidence
PR:000000266 hCREBBP/var:R1378P
UniProtKB:Q92793, Arg-1378, CHEBI:50342 | UniProtKB:Q92793-1, Arg-1378, CHEBI:50342 | CREB-binding protein sequence variant 1 (human)
"A CREB-binding protein (human) that has a Pro residue at the position equivalent to Arg-1378 of the amino acid sequence represented by UniProtKB:Q92793-1. Example: UniProtKB:Q92793-1, Arg-1378, CHEBI:50342." [PMID:11331617, PRO:CNA, PRO:DAN]
associated_with_disease_progressionDO:1933 Rubinstein-Taybi syndrome PMID:11331617
enablesNOT GO:0004402 histone acetyltransferase activity PMID:11331617
located_inSO:0001559 polypeptide_loss_of_function_variant PMID:11331617