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Description for Protein SCN4A

sodium channel, voltage-gated, type IV, alpha subunit
9 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. It is expressed in skeletal muscle, and mutations in this gene have been linked to several myotonia and periodic paralysis disorders. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
  • IQ: Short calmodulin-binding motif containing conserved Ile and Gln residues.
  • CC: Coiled Coil
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04837
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Sodium channel protein, skeletal muscle alpha subunit; Sodium channel, voltage-gated, type IV, alpha polypeptide; HYPP; HYKPP; NAC1A; SkM1
    Approved Symbol:
    SCN4A
    (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):

  • Flecainide(db);
  • Fospropofol(db);
  • Propofol(db);
  • Zonisamide(db)

    Associated Genetic Diseases:

  • Hyperkalemic periodic paralysis(Pd);
  • Hypokalemic periodic paralysis(Pd);
  • Myasthenic syndrome(Pd);
  • Myotonia congenita, atypical(Pd);
  • Myotonia congenita, atypical, acetazolamide-responsive(Pd);
  • Myotonia fluctuans(Pd);
  • Myotonia, potassium-aggravated(Pd);
  • Normokalemic periodic paralysis, potassium-sensitive(Pd);
  • Paramyotonia congenita(Pd);
  • Paramyotonia congenita/hyperkalemic periodic paralysis(Pd);
  • Paramyotonia congenita/myotonia congenita(Pd)
    		• Predicted Transmembrane Domains:
    04912_1(21)
    Additional Identifiers:

    HPRD: 04912 Entrez Gene ID: 6329 OMIM ID: 603967 Swissprot Accession: P35499;