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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 name
CREB-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 Category
organism-sequence
Parent
PR:Q92793
CREB-binding protein (human)
Taxon
NCBITaxon: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)
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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_progression
DO:1933
Rubinstein-Taybi syndrome
PMID:11331617
enables
NOT
GO:0004402
histone acetyltransferase activity
PMID:11331617
located_in
SO:0001559
polypeptide_loss_of_function_variant
PMID:11331617