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Description for Protein SCN1B

sodium channel, voltage-gated, type I, beta
4 total interacting proteins; 1 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/1)
(platelet: 1)
Summary:
Voltage-gated sodium channels are heteromeric proteins that function in the generation and propagation of action potentials in muscle and neuronal cells. They are composed of one alpha and two beta subunits, where the alpha subunit provides channel activity and the beta-1 subunit modulates the kinetics of channel inactivation. This gene encodes a sodium channel beta-1 subunit. Mutations in this gene result in generalized epilepsy with febrile seizures plus, Brugada syndrome 5, and defects in cardiac conduction. Multiple transcript variants encoding different isoforms have been found for this gene. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • TM: Transmembrane domain
  • IG: Immunoglobulin
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K04845
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    GEFSP1; Sodium channel, voltage-gated, type I, beta polypeptide; Sodium channel, voltage-gated, type I, beta isoform b; Sodium channel, voltage-gated, type I, beta isoform a
    Approved Symbol:
    SCN1B
    (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):

  • Zonisamide(db)

    Associated Genetic Diseases:

  • Generalized epilepsy with febrile seizures plus(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 2 : 0
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 02581 Entrez Gene ID: 6324 OMIM ID: 600235 Swissprot Accession: Q07699; Q6TN97; Q5TZZ4;