Voltage-gated sodium channels are transmembraneglycoprotein 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.[6]
SCN3A is involved in gyrification – the folding of the human cerebral cortex, and affects speech production brain areas.[7]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000153253 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000057182 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"UniProt". www.uniprot.org. Retrieved 24 July 2022.
^ ab"Entrez Gene: SCN3A sodium channel, voltage-gated, type III, alpha subunit".
^Smith RS, Kenny CJ, Ganesh V, Jang A, Borges-Monroy R, Partlow JN, et al. (September 2018). "Sodium Channel SCN3A (NaV1.3) Regulation of Human Cerebral Cortical Folding and Oral Motor Development". Neuron. 99 (5): 905–913.e7. doi:10.1016/j.neuron.2018.07.052. PMC6226006. PMID 30146301.
Further readingedit
Catterall WA, Goldin AL, Waxman SG (December 2005). "International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels". Pharmacological Reviews. 57 (4): 397–409. doi:10.1124/pr.57.4.4. PMID 16382098. S2CID 7332624.
Malo MS, Srivastava K, Andresen JM, Chen XN, Korenberg JR, Ingram VM (April 1994). "Targeted gene walking by low stringency polymerase chain reaction: assignment of a putative human brain sodium channel gene (SCN3A) to chromosome 2q24-31". Proceedings of the National Academy of Sciences of the United States of America. 91 (8): 2975–9. Bibcode:1994PNAS...91.2975M. doi:10.1073/pnas.91.8.2975. PMC43497. PMID 8159690.
Bonaldo MF, Lennon G, Soares MB (September 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Lu CM, Brown GB (February 1998). "Isolation of a human-brain sodium-channel gene encoding two isoforms of the subtype III alpha-subunit". Journal of Molecular Neuroscience. 10 (1): 67–70. doi:10.1007/BF02737087. PMID 9589372. S2CID 2533542.
Nagase T, Kikuno R, Ishikawa KI, Hirosawa M, Ohara O (February 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 Research. 7 (1): 65–73. doi:10.1093/dnares/7.1.65. PMID 10718198.
Gotthardt M, Trommsdorff M, Nevitt MF, Shelton J, Richardson JA, Stockinger W, Nimpf J, Herz J (August 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". The Journal of Biological Chemistry. 275 (33): 25616–24. doi:10.1074/jbc.M000955200. PMID 10827173.
Chen YH, Dale TJ, Romanos MA, Whitaker WR, Xie XM, Clare JJ (December 2000). "Cloning, distribution and functional analysis of the type III sodium channel from human brain". The European Journal of Neuroscience. 12 (12): 4281–9. doi:10.1046/j.1460-9568.2000.01336.x. PMID 11122339.
Kasai N, Fukushima K, Ueki Y, Prasad S, Nosakowski J, Sugata K, Sugata A, Nishizaki K, Meyer NC, Smith RJ (February 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, Mee EW, Emson PC, Clare JJ (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. S2CID 26385238.
Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH (February 2003). "Sodium channels SCN1A, SCN2A and SCN3A in familial autism". Molecular Psychiatry. 8 (2): 186–94. doi:10.1038/sj.mp.4001241. PMID 12610651.
Shah BS, Rush AM, Liu S, Tyrrell L, Black JA, Dib-Hajj SD, Waxman SG (August 2004). "Contactin associates with sodium channel Nav1.3 in native tissues and increases channel density at the cell surface". The Journal of Neuroscience. 24 (33): 7387–99. doi:10.1523/JNEUROSCI.0322-04.2004. PMC6729770. PMID 15317864.
Thimmapaya R, Neelands T, Niforatos W, Davis-Taber RA, Choi W, Putman CB, Kroeger PE, Packer J, Gopalakrishnan M, Faltynek CR, Surowy CS, Scott VE (July 2005). "Distribution and functional characterization of human Nav1.3 splice variants". The European Journal of Neuroscience. 22 (1): 1–9. doi:10.1111/j.1460-9568.2005.04155.x. PMID 16029190. S2CID 30185095.
Platoshyn O, Remillard CV, Fantozzi I, Sison T, Yuan JX (November 2005). "Identification of functional voltage-gated Na(+) channels in cultured human pulmonary artery smooth muscle cells". Pflügers Archiv. 451 (2): 380–387. doi:10.1007/s00424-005-1478-3. PMC1351366. PMID 16052353.
Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (January 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC1356129. PMID 16344560.
Martin MS, Tang B, Ta N, Escayg A (August 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. PMC2637551. PMID 17544618.
scn3a, sodium, channel, voltage, gated, type, alpha, subunit, protein, that, humans, encoded, gene, identifiersaliases, nac3, nav1, sodium, voltage, gated, channel, alpha, subunit, ffevf4, eiee62, dee62external, idsomim, 182391, 98249, homologene, 56005, genec. Sodium channel voltage gated type III alpha subunit SCN3A is a protein that in humans is encoded by the SCN3A gene 5 6 SCN3AIdentifiersAliasesSCN3A NAC3 Nav1 3 sodium voltage gated channel alpha subunit 3 FFEVF4 EIEE62 DEE62External IDsOMIM 182391 MGI 98249 HomoloGene 56005 GeneCards SCN3AGene location Human Chr Chromosome 2 human 1 Band2q24 3Start165 087 526 bp 1 End165 204 050 bp 1 Gene location Mouse Chr Chromosome 2 mouse 2 Band2 C1 3 2 38 55 cMStart65 287 462 bp 2 End65 397 971 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inendothelial cellmiddle temporal gyrusentorhinal cortexBrodmann area 23orbitofrontal cortexRegion I of hippocampus properpostcentral gyrusBrodmann area 46cerebellar vermissuperior frontal gyrusTop expressed insuperior cervical ganglionhabenuladorsomedial hypothalamic nucleusventromedial nucleuspiriform cortexparaventricular nucleus of hypothalamustrigeminal ganglionventral tegmental areatemporal lobesupraoptic nucleusMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionsodium channel activity voltage gated ion channel activity ion channel activity voltage gated sodium channel activityCellular componentvoltage gated sodium channel complex cytoplasm integral component of membrane membrane plasma membrane axonBiological processmembrane depolarization during action potential sodium ion transmembrane transport sodium ion transport regulation of ion transmembrane transport ion transport transmembrane transport ion transmembrane transport neuronal action potentialSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez632820269EnsemblENSG00000153253ENSMUSG00000057182UniProtQ9NY46A2ASI5RefSeq mRNA NM 001081676NM 001081677NM 006922NM 018732NM 001355166NM 001355167NM 001355168NM 001355169NM 001355170NM 001355171RefSeq protein NP 001075145NP 001075146NP 008853NP 001342095NP 001342096NP 001342097NP 001342098NP 001342099NP 001342100NP 061202Location UCSC Chr 2 165 09 165 2 MbChr 2 65 29 65 4 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 References 3 Further reading 4 External linksFunction editVoltage 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 6 SCN3A is involved in gyrification the folding of the human cerebral cortex and affects speech production brain areas 7 References edit a b c GRCh38 Ensembl release 89 ENSG00000153253 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000057182 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine UniProt www uniprot org Retrieved 24 July 2022 a b Entrez Gene SCN3A sodium channel voltage gated type III alpha subunit Smith RS Kenny CJ Ganesh V Jang A Borges Monroy R Partlow JN et al September 2018 Sodium Channel SCN3A NaV1 3 Regulation of Human Cerebral Cortical Folding and Oral Motor Development Neuron 99 5 905 913 e7 doi 10 1016 j neuron 2018 07 052 PMC 6226006 PMID 30146301 Further reading editCatterall WA Goldin AL Waxman SG December 2005 International Union of Pharmacology XLVII Nomenclature and structure function relationships of voltage gated sodium channels Pharmacological Reviews 57 4 397 409 doi 10 1124 pr 57 4 4 PMID 16382098 S2CID 7332624 Malo MS Srivastava K Andresen JM Chen XN Korenberg JR Ingram VM April 1994 Targeted gene walking by low stringency polymerase chain reaction assignment of a putative human brain sodium channel gene SCN3A to chromosome 2q24 31 Proceedings of the National Academy of Sciences of the United States of America 91 8 2975 9 Bibcode 1994PNAS 91 2975M doi 10 1073 pnas 91 8 2975 PMC 43497 PMID 8159690 Bonaldo MF Lennon G Soares MB September 1996 Normalization and subtraction two approaches to facilitate gene discovery Genome Research 6 9 791 806 doi 10 1101 gr 6 9 791 PMID 8889548 Lu CM Brown GB February 1998 Isolation of a human brain sodium channel gene encoding two isoforms of the subtype III alpha subunit Journal of Molecular Neuroscience 10 1 67 70 doi 10 1007 BF02737087 PMID 9589372 S2CID 2533542 Nagase T Kikuno R Ishikawa KI Hirosawa M Ohara O February 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 Research 7 1 65 73 doi 10 1093 dnares 7 1 65 PMID 10718198 Gotthardt M Trommsdorff M Nevitt MF Shelton J Richardson JA Stockinger W Nimpf J Herz J August 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 The Journal of Biological Chemistry 275 33 25616 24 doi 10 1074 jbc M000955200 PMID 10827173 Chen YH Dale TJ Romanos MA Whitaker WR Xie XM Clare JJ December 2000 Cloning distribution and functional analysis of the type III sodium channel from human brain The European Journal of Neuroscience 12 12 4281 9 doi 10 1046 j 1460 9568 2000 01336 x PMID 11122339 Kasai N Fukushima K Ueki Y Prasad S Nosakowski J Sugata K Sugata A Nishizaki K Meyer NC Smith RJ February 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 Mee EW Emson PC Clare JJ 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 S2CID 26385238 Weiss LA Escayg A Kearney JA Trudeau M MacDonald BT Mori M Reichert J Buxbaum JD Meisler MH February 2003 Sodium channels SCN1A SCN2A and SCN3A in familial autism Molecular Psychiatry 8 2 186 94 doi 10 1038 sj mp 4001241 PMID 12610651 Shah BS Rush AM Liu S Tyrrell L Black JA Dib Hajj SD Waxman SG August 2004 Contactin associates with sodium channel Nav1 3 in native tissues and increases channel density at the cell surface The Journal of Neuroscience 24 33 7387 99 doi 10 1523 JNEUROSCI 0322 04 2004 PMC 6729770 PMID 15317864 Thimmapaya R Neelands T Niforatos W Davis Taber RA Choi W Putman CB Kroeger PE Packer J Gopalakrishnan M Faltynek CR Surowy CS Scott VE July 2005 Distribution and functional characterization of human Nav1 3 splice variants The European Journal of Neuroscience 22 1 1 9 doi 10 1111 j 1460 9568 2005 04155 x PMID 16029190 S2CID 30185095 Platoshyn O Remillard CV Fantozzi I Sison T Yuan JX November 2005 Identification of functional voltage gated Na channels in cultured human pulmonary artery smooth muscle cells Pflugers Archiv 451 2 380 387 doi 10 1007 s00424 005 1478 3 PMC 1351366 PMID 16052353 Kimura K Wakamatsu A Suzuki Y Ota T Nishikawa T Yamashita R Yamamoto J Sekine M Tsuritani K Wakaguri H Ishii S Sugiyama T Saito K Isono Y Irie R Kushida N Yoneyama T Otsuka R Kanda K Yokoi T Kondo H Wagatsuma M Murakawa K Ishida S Ishibashi T Takahashi Fujii A Tanase T Nagai K Kikuchi H Nakai K Isogai T Sugano S January 2006 Diversification of transcriptional modulation large scale identification and characterization of putative alternative promoters of human genes Genome Research 16 1 55 65 doi 10 1101 gr 4039406 PMC 1356129 PMID 16344560 Martin MS Tang B Ta N Escayg A August 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 External links editSCN3A protein human at the U S National Library of Medicine Medical Subject Headings MeSH This article incorporates text from the United States National Library of Medicine which is in the public domain nbsp This membrane protein related article is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title SCN3A amp oldid 1188082470, wikipedia, wiki, book, books, library,
