Nav1.5

Nav1.5
Sodium channel, voltage-gated, type V, alpha subunit

Solution structure of the Nav1.5 inactivation gate.[1]
Identifiers
Symbols SCN5A; HB1; HB2; CDCD2; CMD1E; CMPD2; HH1; IVF; LQT3; Nav1.5; SSS1
External IDs OMIM: 600163 MGI: 98251 HomoloGene: 22738 IUPHAR: Nav1.5 GeneCards: SCN5A Gene
Orthologs
Species Human Mouse
Entrez 6331 20271
Ensembl ENSG00000183873 ENSMUSG00000032511
UniProt Q14524 Q9JJV9
RefSeq (mRNA) NM_198056 NM_021544
RefSeq (protein) NP_932173 NP_067519
Location (UCSC) Chr 3:
38.59 – 38.69 Mb		 Chr 9:
119.33 – 119.43 Mb
PubMed search [1] [2]

The Nav1.5 is a sodium ion channel protein that in humans is encoded by the SCN5A gene. Mutations in the gene are associated with long QT syndrome type 3 (LQT3), Brugada syndrome, primary cardiac conduction disease and idiopathic ventricular fibrillation.

The protein encoded by this gene is an integral membrane protein and tetrodotoxin-resistant voltage-gated sodium channel subunit. The encoded 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 two transcript variants encoding separate isoforms which differ by a single amino acid. Mutation nomenclature has been assigned with respect to the longer isoform.[2]

Contents

Interactions

Nav1.5 has been shown to interact with Syntrophin, alpha 1.[3]

Nav1.5 interacts with ankyrin-G through a nine-amino acid ankyrin-G binding sequence.[4]

See also

References

  1. ^ PDB 1byy; Rohl CA, Boeckman FA, Baker C, Scheuer T, Catterall WA, Klevit RE (January 1999). "Solution structure of the sodium channel inactivation gate". Biochemistry 38 (3): 855–61. doi:10.1021/bi9823380. PMID 9893979. 
  2. ^ "Entrez Gene: SCN5A sodium channel, voltage-gated, type V, alpha subunit". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6331. 
  3. ^ Gee, S H; Madhavan R, Levinson S R, Caldwell J H, Sealock R, Froehner S C (Jan. 1998). "Interaction of muscle and brain sodium channels with multiple members of the syntrophin family of dystrophin-associated proteins". J. Neurosci. 18 (1): 128–37. PMID 9412493. 
  4. ^ Mohler PJ, Rivolta I, Napolitano C, LeMaillet G, Lambert S, Priori SG, Bennett V (December 2004). "Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes". Proc. Natl. Acad. Sci. U.S.A. 101 (50): 17533–8. doi:10.1073/pnas.0403711101. PMC 536011. PMID 15579534. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=536011. 

Further reading

  • Viswanathan PC, Balser JR (2004). "Inherited sodium channelopathies: a continuum of channel dysfunction". Trends Cardiovasc. Med. 14 (1): 28–35. doi:10.1016/j.tcm.2003.10.001. PMID 14720472. 
  • Catterall WA, Goldin AL, Waxman SG (2006). "International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels". Pharmacol. Rev. 57 (4): 397–409. doi:10.1124/pr.57.4.4. PMID 16382098. 
  • Wolf CM, Berul CI (2006). "Inherited conduction system abnormalities--one group of diseases, many genes". J. Cardiovasc. Electrophysiol. 17 (4): 446–55. doi:10.1111/j.1540-8167.2006.00427.x. PMID 16643374. 

External links


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