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Description for Protein SCN5A

sodium channel, voltage-gated, type V, alpha subunit
15 total interacting proteins; 6 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. This protein is found primarily in cardiac muscle and is responsible for the initial upstroke of the action potential in an electrocardiogram. Defects in this gene are a cause of long QT syndrome type 3 (LQT3), an autosomal dominant cardiac disease. Alternative splicing results in several transcript variants encoding different isoforms. [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:
    K04838
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Cardiac sodium channel alpha subunit; SkM2; Voltage-gated sodium channel type V alpha; Sodium channel, voltage-gated, type V, alpha polypeptide (long (electrocardiographic) QT syndrome 3); Voltage-gated sodium channel type V alpha isoform b; Voltage-gated sodium channel type V alpha isoform a; Voltage-gated sodium channel type V alpha isoform c; Voltage-gated sodium channel type V alpha isoform d; HB1; HB2; HH1; IVF; LQT3; SSS1; Nav1.5
    Approved Symbol:
    SCN5A
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 15
    Human (de-) phosphorylation sites: 15; 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):

  • Ajmaline(db);
  • Aprindine(db);
  • Benzonatate(db);
  • Carbamazepine(db);
  • Cocaine(db);
  • Dibucaine(db);
  • Disopyramide(db);
  • Encainide(db);
  • Ethotoin(db);
  • Flecainide(db);
  • Fosphenytoin(db);
  • Hexylcaine(db);
  • Indecainide(db);
  • Lidocaine(db);
  • Mephenytoin(db);
  • Mexiletine(db);
  • Moricizine(db);
  • Oxcarbazepine(db);
  • Phenytoin(db);
  • Prilocaine(db);
  • Procainamide(db);
  • Propafenone(db);
  • Quinidine(db);
  • Quinidine barbiturate(db);
  • Ranolazine(db);
  • Riluzole(db);
  • Tocainide(db);
  • Verapamil(db);
  • Zonisamide(db)

    Associated Genetic Diseases:

  • Brugada syndrome(Pd);
  • Cardiac conduction defect, nonprogressive(Pd);
  • Cardiomyopathy, dilated, 1E(Pd);
  • Heart block, nonprogressive(Pd);
  • Long qt syndrome 2/3, digenic(Pd);
  • Long qt syndrome 3(Pd);
  • Long qt syndrome 3, acquired, susceptibility to(Pd);
  • Progressive familial heart block, type I(Pd);
  • Sick sinus syndrome, congenital(Pd);
  • Ventricular fibrillation, idiopathic(Pd)
    		• Predicted Transmembrane Domains:
    02543_4(19)
    02543_3(19)
    02543_2(21)
    02543_1(21)
    Additional Identifiers:

    HPRD: 02543 Entrez Gene ID: 6331 OMIM ID: 600163 Swissprot Accession: Q14524; Q86V90; Q59H93;