Protein Ontology Report - hCREBBP/var:R1378P PR:000000266 - http://purl.obolibrary.org/obo/PR_000000266

Ontology Information
PRO ID	PR:000000266 Show OBO stanza / PAF / GPI
PRO name	CREB-binding protein sequence variant R1378P (human)
Synonyms	PRO-short-label: EXACT: hCREBBP/var:R1378P PRO-proteoform-std: 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 Category	organism-sequence
Parent	PR:Q92793 CREB-binding protein (human)
Taxon	NCBITaxon:9606 Homo sapiens
Term Hierarchy Visualization	DAG     OLS     Cytoscape

Related Cross References
DB identifiers	UniProtKB_VAR:VAR_015578

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PRO ID & Category Annotation Complex Name Short Label Definition & Comment

Functional Annotation PRO Centric View GO Centric View
PRO Term GO Annotation Evidence PR:000000266 hCREBBP/var:R1378P Arg-1378, CHEBI:50342 associated_with_disease_progression DOID:1933 Rubinstein-Taybi syndrome PMID:11331617 enables NOT GO:0004402 histone acetyltransferase activity PMID:11331617 has_agent SO:0001559 polypeptide_loss_of_function_variant PMID:11331617

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