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Gene Ontology Classifications
sodium channel, voltage-gated, type V, alpha

Go Annotations as Summary Text (Tabular View) (GO Graph)

GO curators for mouse genes have assigned the following annotations to the gene product of Scn5a. (This text reflects annotations as of Tuesday, May 26, 2015.)
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
  1. Dominguez JN et al. (2008) Tissue distribution and subcellular localization of the cardiac sodium channel during mouse heart development. Cardiovasc Res, 78:45-52. (PubMed:18178574)
  2. Haufe V et al. (2005) Expression pattern of neuronal and skeletal muscle voltage-gated Na+ channels in the developing mouse heart. J Physiol, 564:683-96. (PubMed:15746173)
  3. Hund TJ et al. (2010) A beta(IV)-spectrin/CaMKII signaling complex is essential for membrane excitability in mice. J Clin Invest, 120:3508-19. (PubMed:20877009)
  4. Lei M et al. (2005) Sinus node dysfunction following targeted disruption of the murine cardiac sodium channel gene Scn5a. J Physiol, 567:387-400. (PubMed:15932895)
  5. Liu M et al. (2009) Cardiac Na+ current regulation by pyridine nucleotides. Circ Res, 105:737-45. (PubMed:19745168)
  6. Lopez-Santiago LF et al. (2007) Sodium channel Scn1b null mice exhibit prolonged QT and RR intervals. J Mol Cell Cardiol, 43:636-47. (PubMed:17884088)
  7. Malhotra JD et al. (2004) Tyrosine-phosphorylated and nonphosphorylated sodium channel beta1 subunits are differentially localized in cardiac myocytes. J Biol Chem, 279:40748-54. (PubMed:15272007)
  8. Papadatos GA et al. (2002) Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a. Proc Natl Acad Sci U S A, 99:6210-5. (PubMed:11972032)
  9. Royer A et al. (2005) Mouse model of SCN5A-linked hereditary Lenegre's disease: age-related conduction slowing and myocardial fibrosis. Circulation, 111:1738-46. (PubMed:15809371)
  10. Ueda K et al. (2008) Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci U S A, 105:9355-60. (PubMed:18591664)
  11. Valdivia CR et al. (2010) Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation. Cardiovasc Res, 86:392-400. (PubMed:20042427)
  12. van Veen TA et al. (2005) Impaired impulse propagation in Scn5a-knockout mice: combined contribution of excitability, connexin expression, and tissue architecture in relation to aging. Circulation, 112:1927-35. (PubMed:16172272)
  13. Wang C et al. (2011) Fibroblast growth factor homologous factor 13 regulates Na+ channels and conduction velocity in murine hearts. Circ Res, 109:775-82. (PubMed:21817159)
  14. Wu L et al. (2008) Identification of a new co-factor, MOG1, required for the full function of cardiac sodium channel Nav 1.5. J Biol Chem, 283:6968-78. (PubMed:18184654)
  15. Zimmer T et al. (2002) Mouse heart Na+ channels: primary structure and function of two isoforms and alternatively spliced variants. Am J Physiol Heart Circ Physiol, 282:H1007-17. (PubMed:11834499)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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