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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
PRO name CREB-binding protein sequence variant R1378P (human)
Synonyms
PRO-short-label: hCREBBP/var:R1378P
EXACT: CREB-binding protein sequence variant 1 (human)
PRO-proteoform-std: UniProtKB:Q92793-1, Arg-1378, CHEBI:50342
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)
Term Hierarchy Visualization DAG     OLS     Cytoscape


Interactive Sequence View Select/align proteoforms across species

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

Functional Annotation
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
capable_of NOT GO:0004402 histone acetyltransferase activity PMID:11331617
has_agent SO:0001559 polypeptide_loss_of_function_variant PMID:11331617

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