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Description for Protein SCN1A

sodium channel, voltage-gated, type I, alpha subunit
1 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The vertebrate sodium channel is a voltage-gated ion channel essential for the generation and propagation of action potentials, mainly in nerve and muscle. Voltage-sensitive sodium channels are heteromeric complexes consisting of a large central pore-forming glycosylated alpha subunit, and two smaller auxiliary beta subunits. This gene encodes the large alpha subunit, and mutations in this gene have been associated with several epilepsy, convulsion and migraine disorders. Three transcript variants encoding different isoforms have been found for this gene. (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:
    K04833
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Sodium channel, brain type I, alpha subunit; NaC1; Sodium channel protein, brain I alpha subunit; SCN1
    Approved Symbol:
    SCN1A
    (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):

  • Nitrazepam(db);
  • Permethrin(db);
  • Phenacemide(db);
  • Phenazopyridine(db);
  • Phenytoin(db);
  • Topiramate(db);
  • Zonisamide(db)


    Associated Genetic Diseases:

  • Epilepsy, intractable childhood, with generalized tonic-clonic seizures(Pd);
  • Febrile convulsions, familial, 3(Pd);
  • Generalized epilepsy with febrile seizures plus, type 2(Pd);
  • Migraine, familial hemiplegic, 3(Pd);
  • Myoclonic epilepsy, severe, of infancy(Pd)
  • Predicted Transmembrane Domains:
    01669_1(19)
    Additional Identifiers:

    HPRD: 01669 Entrez Gene ID: 6323 OMIM ID: 182389 Swissprot Accession: P35498Q8IUJ6