SCN3A

Sodium channel, voltage-gated, type III, alpha subunit
PDB rendering based on 1byy.
Available structures PDB 1byy
Identifiers
Symbols	SCN3A; KIAA1356; NAC3; Nav1.3
External IDs	OMIM: 182391 MGI: 98249 HomoloGene: 56005 IUPHAR: Nav1.3 GeneCards: SCN3A Gene
Gene Ontology Molecular function • voltage-gated ion channel activity • voltage-gated sodium channel activity Cellular component • voltage-gated sodium channel complex • membrane • integral to membrane Biological process • ion transport • sodium ion transport • transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6328	20269
Ensembl	ENSG00000153253	ENSMUSG00000057182
UniProt	Q9NY46	n/a
RefSeq (mRNA)	NM_001081676.1	NM_018732.3
RefSeq (protein)	NP_001075145.1	NP_061202.3
Location (UCSC)	Chr 2: 165.94 – 166.06 Mb	Chr 2: 65.3 – 65.41 Mb
PubMed search	[1]	[2]

Sodium channel, voltage-gated, type III, alpha subunit (SCN3A) is a protein that in humans is encoded by the Nav1.3 gene.^[1]

Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with 24 transmembrane domains and one or more regulatory beta subunits. They are responsible for the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family, and is found in a cluster of five alpha subunit genes on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.^[1]

See also

• Sodium channel

References

1. ^ ^{a b} "Entrez Gene: SCN3A sodium channel, voltage-gated, type III, alpha subunit". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6328. 

Further reading

• 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. 
• Malo MS, Srivastava K, Andresen JM, et al. (1994). "Targeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31". Proc. Natl. Acad. Sci. U.S.A. 91 (8): 2975–9. doi:10.1073/pnas.91.8.2975. PMC 43497. PMID 8159690. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=43497. 
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548. 
• Lu CM, Brown GB (1998). "Isolation of a human-brain sodium-channel gene encoding two isoforms of the subtype III alpha-subunit". J. Mol. Neurosci. 10 (1): 67–70. doi:10.1007/BF02737087. PMID 9589372. 
• Nagase T, Kikuno R, Ishikawa KI, et al. (2000). "Prediction of the coding sequences of unidentified human genes. XVI. The complete sequences of 150 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198. 
• Gotthardt M, Trommsdorff M, Nevitt MF, et al. (2000). "Interactions of the low density lipoprotein receptor gene family with cytosolic adaptor and scaffold proteins suggest diverse biological functions in cellular communication and signal transduction". J. Biol. Chem. 275 (33): 25616–24. doi:10.1074/jbc.M000955200. PMID 10827173. 
• Chen YH, Dale TJ, Romanos MA, et al. (2001). "Cloning, distribution and functional analysis of the type III sodium channel from human brain". Eur. J. Neurosci. 12 (12): 4281–9. doi:10.1046/j.1460-9568.2000.01336.x. PMID 11122339. 
• Kasai N, Fukushima K, Ueki Y, et al. (2001). "Genomic structures of SCN2A and SCN3A - candidate genes for deafness at the DFNA16 locus". Gene 264 (1): 113–22. doi:10.1016/S0378-1119(00)00594-1. PMID 11245985. 
• Whitaker WR, Faull RL, Dragunow M, et al. (2001). "Changes in the mRNAs encoding voltage-gated sodium channel types II and III in human epileptic hippocampus". Neuroscience 106 (2): 275–85. doi:10.1016/S0306-4522(01)00212-3. PMID 11566500. 
• Weiss LA, Escayg A, Kearney JA, et al. (2003). "Sodium channels SCN1A, SCN2A and SCN3A in familial autism". Mol. Psychiatry 8 (2): 186–94. doi:10.1038/sj.mp.4001241. PMID 12610651. 
• Shah BS, Rush AM, Liu S, et al. (2004). "Contactin associates with sodium channel Nav1.3 in native tissues and increases channel density at the cell surface". J. Neurosci. 24 (33): 7387–99. doi:10.1523/JNEUROSCI.0322-04.2004. PMID 15317864. 
• Thimmapaya R, Neelands T, Niforatos W, et al. (2005). "Distribution and functional characterization of human Nav1.3 splice variants". Eur. J. Neurosci. 22 (1): 1–9. doi:10.1111/j.1460-9568.2005.04155.x. PMID 16029190. 
• Platoshyn O, Remillard CV, Fantozzi I, et al. (2006). "Identification of Functional Voltage-gated Na+ Channels in Cultured Human Pulmonary Artery Smooth Muscle Cells". Pflugers Arch. 451 (2): 380–7. doi:10.1007/s00424-005-1478-3. PMC 1351366. PMID 16052353. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1351366. 
• Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1356129. 
• Martin MS, Tang B, Ta N, Escayg A (2007). "Characterization of 5′ untranslated regions of the voltage-gated sodium channels SCN1A, SCN2A, and SCN3A and identification of cis-conserved noncoding sequences". Genomics 90 (2): 225–35. doi:10.1016/j.ygeno.2007.04.006. PMC 2637551. PMID 17544618. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2637551. 

External links

• MeSH SCN3A+protein,+human

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