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Description for Protein KCNQ1

potassium voltage-gated channel, KQT-like subfamily, member 1
9 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a voltage-gated potassium channel required for the repolarization phase of the cardiac action potential. The gene product can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome and familial atrial fibrillation. The gene is located in a region of chromosome 11 that contains a number of contiguous genes, which are abnormally imprinted in cancer and the Beckwith-Wiedemann syndrome. This gene is also imprinted, with preferential expression from the maternal allele in some tissues, excluding cardiac muscle. Alternatively spliced transcripts encoding distinct isoforms have been described. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • CC: Coiled Coil

  • Gene Ontology:
    Gene Ontology Annotations

    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04926
    KEGG - Pathway(s):
    hsa05110
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    RWS; WRS; LQT1; KCNA8; KCNA9; Kv7.1; KVLQT1; Potassium voltage gated channel, KQT like subfamily precursor, member 1; Ward Romano syndrome 1; Potassium voltage gated channel subfamily KQT member 1; Potassium channel KQT like 1; Kv1.9; LQT; ATFB1; Slow delayed rectifier channel subunit; Kidney and cardiac voltage dependend K+ channel; IKs producing slow voltage-gated potassium channel alpha subunit KvLQT1; KQT-like 1; Voltage-gated potassium channel subunit Kv7.1; Potassium voltage-gated channel, KQT-like subfamily, member 1 isoform 1; Potassium voltage-gated channel, KQT-like subfamily, member 1 isoform 2
    Approved Symbol:
    KCNQ1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 22
    Human (de-) phosphorylation sites: 22; No platelet phosphorylation sites

    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

  • Bepridil(db);
  • Indapamide(db)


    Associated Genetic Diseases:

  • Atrial fibrillation, familial(Pd);
  • Jervell and Lange-Nielsen syndrome(Pd);
  • Long qt syndrome 1(Pd);
  • Long qt syndrome 1, recessive(Pd);
  • Long qt syndrome 1/2, digenic(Pd);
  • Short qt syndrome 2(Pd)
  • Predicted Transmembrane Domains:
  • Isoform 3 : 6
  • Isoform 2 : 6
  • Isoform 1 : 6
  • Additional Identifiers:

    HPRD: 06341 Entrez Gene ID: 3784 OMIM ID: 607542 Swissprot Accession: P51787Q14D14