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Protein Ontology Report - hKCNQ1/var:R539W

PR:000000854 - http://purl.obolibrary.org/obo/PR_000000854
Ontology Information
PRO ID PR:000000854 Show OBO stanza / PAF
PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant R539W (human)
Synonyms
PRO-short-label: hKCNQ1/var:R539W
EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 43 (human)
PRO-proteoform-std: UniProtKB:P51787-1, Arg-539, CHEBI:29954
Definition A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Trp residue at the position equivalent to Arg-539 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-539, CHEBI:29954. [PMID:10728423, PRO:CNA, PRO:DAN]
Comment Note: This residue is located in the cytoplasmic C-terminus. This amino acid change affects the interaction with other channel subunits.
PRO Category organism-sequence
Parent PR:P51787 potassium voltage-gated channel subfamily KQT member 1 (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:000000854
hKCNQ1/var:R539W
Arg-539, CHEBI:29954
associated_with_disease_progression DOID:2843 long QT syndrome PMID:10728423
capable_of GO:0005251 delayed rectifier potassium channel activity PMID:10728423
part_of GO:0008076 voltage-gated potassium channel complex PMID:10728423

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