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Description for Protein KCNE1

potassium voltage-gated channel, Isk-related family, member 1
3 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The product of this gene belongs to the potassium channel KCNE family. Potassium ion channels are essential to many cellular functions and show a high degree of diversity, varying in their electrophysiologic and pharmacologic properties. This gene encodes a transmembrane protein known to associate with the product of the KVLQT1 gene to form the delayed rectifier potassium channel. Mutation in this gene are associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long-QT syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04894
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Minimal potassium ion channel; IsK slow voltage gated potassium channel protein; MinK; Human cardiac delayed rectifier potassium channel protein
    Approved Symbol:
    KCNE1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; 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):

  • Indapamide(db)

    Associated Genetic Diseases:

  • Jervell and Lange-Nielsen syndrome(Pd);
  • Long qt syndrome 5(Pd);
  • Long qt syndrome 5, acquired, susceptibility to(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 4 : 1
  • Isoform 3 : 1
  • Isoform 2 : 1
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 01442 Entrez Gene ID: 3753 OMIM ID: 176261 Swissprot Accession: C7S316; P15382; Q6FHJ6;