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Open Access Articles- Top Results for Nav1.5

Nav1.5

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Identifiers
SymbolsSCN5A ; CDCD2; CMD1E; CMPD2; HB1; HB2; HBBD; HH1; ICCD; IVF; LQT3; Nav1.5; PFHB1; SSS1; VF1
External IDsOMIM600163 MGI98251 HomoloGene22738 IUPHAR: 582 ChEMBL: 1980 GeneCards: SCN5A Gene
Orthologs
SpeciesHumanMouse
Entrez633120271
EnsemblENSG00000183873ENSMUSG00000032511
UniProtQ14524Q9JJV9
RefSeq (mRNA)NM_000335NM_001253860
RefSeq (protein)NP_000326NP_001240789
Location (UCSC)Chr 3:
38.59 – 38.69 Mb
Chr 9:
119.48 – 119.58 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.[1]

Interactions

Nav1.5 has been shown to interact with Syntrophin, alpha 1.[2]

Nav1.5 interacts with ankyrin-G through a nine-amino acid ankyrin-G binding sequence.[3]

See also

References

  1. ^ "Entrez Gene: SCN5A sodium channel, voltage-gated, type V, alpha subunit". 
  2. ^ 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. 
  3. ^ 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. PMC 536011. PMID 15579534. doi:10.1073/pnas.0403711101. 

Further reading

  • Viswanathan PC, Balser JR (2004). "Inherited sodium channelopathies: a continuum of channel dysfunction". Trends Cardiovasc. Med. 14 (1): 28–35. PMID 14720472. doi:10.1016/j.tcm.2003.10.001. 
  • Catterall WA, Goldin AL, Waxman SG (2005). "International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels". Pharmacol. Rev. 57 (4): 397–409. PMID 16382098. doi:10.1124/pr.57.4.4. 
  • Wolf CM, Berul CI (2006). "Inherited conduction system abnormalities—one group of diseases, many genes". J. Cardiovasc. Electrophysiol. 17 (4): 446–55. PMID 16643374. doi:10.1111/j.1540-8167.2006.00427.x. 
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