Home |   Linked Open Data |   Browse |   Search |   Statistics |   Download  RACE-PRO  PRO tracker  Community  PRO Consortium  Publications  Documentation

Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant R533W (human) PR:000000834 - http://purl.obolibrary.org/obo/PR_000000834        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000834      PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant R533W (human)    Synonyms PRO-Short-label: EXACT: hKCNQ1/var:R533W PRO-proteoform-std: EXACT: UniProtKB:P51787, Arg-533, CHEBI:29954 NARROW: UniProtKB:P51787-1, Arg-533, CHEBI:29954 Other: EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 25 (human)   Definition "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Trp residue at the position equivalent to Arg-533 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Arg-533, CHEBI:29954." [PMID:10728423, PRO:CNA, PRO:DAN]    Comment Note: This residue is located in the cytoplasmic C-terminus.    PRO Category organism-sequence    Parent PR:P51787 potassium voltage-gated channel subfamily KQT member 1 (human)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_008949 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000834 hKCNQ1/var:R533W Example: UniProtKB:P51787-1, Arg-533, CHEBI:29954 associated_with_disease_progression DO:2843 long QT syndrome PMID:10704188; PMID:10728423 enables altered GO:0005251 delayed rectifier potassium channel activity relative to PR:000002622 KCNQ1/iso:1/UnMod PMID:10704188; PMID:10728423