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Description for Protein KCNA1

potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
8 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 delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and the loop between S5 and S6 forms the pore and contains the conserved selectivity filter motif (GYGD). The functional channel is a homotetramer. The N-terminus of the channel is associated with beta subunits that can modify the inactivation properties of the channel as well as affect expression levels. The C-terminus of the channel is complexed to a PDZ domain protein that is responsible for channel targeting. Mutations in this gene have been associated with myokymia with periodic ataxia (AEMK). [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • BTB: Broad-Complex, Tramtrack and Bric a brac
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04874
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    RBK1; KV1.1; EA1; MK1; AEMK; HUK1; MBK1
    Approved Symbol:
    KCNA1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; 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):

  • Amitriptyline(db);
  • Desflurane(db);
  • Enflurane(db);
  • Isoflurane(db);
  • Methoxyflurane(db);
  • Nifedipine(db);
  • Sevoflurane(db)

    Associated Genetic Diseases:

  • Episodic ataxia, type 1(Pd);
  • Myokymia(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 4
    • Additional Identifiers:

    HPRD: 08885 Entrez Gene ID: 3736 OMIM ID: 176260 Swissprot Accession: Q09470;