Sodium channel subunit beta-3 is a protein that in humans is encoded by the SCN3Bgene.[5][6] Two alternatively spliced variants, encoding the same protein, have been identified.
Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit 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 beta subunit gene family, and influences the inactivation kinetics of the sodium channel.[6]
Clinical significanceedit
Mutations in the gene are associated with abnormal cardiac electrophysiology.[7][8]
^ abcGRCh38: Ensembl release 89: ENSG00000166257 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000049281 - 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.
^Morgan K, Stevens EB, Shah B, Cox PJ, Dixon AK, Lee K, Pinnock RD, Hughes J, Richardson PJ, Mizuguchi K, Jackson AP (Apr 2000). "β3: An additional auxiliary subunit of the voltage-sensitive sodium channel that modulates channel gating with distinct kinetics". Proc Natl Acad Sci U S A. 97 (5): 2308–13. Bibcode:2000PNAS...97.2308M. doi:10.1073/pnas.030362197. PMC15797. PMID 10688874.
^ ab"Entrez Gene: SCN3B sodium channel, voltage-gated, type III, beta".
^Hakim P, Brice N, Thresher R, Lawrence J, Zhang Y, Jackson AP, Grace AA, Huang CL (January 2010). "Scn3b knockout mice exhibit abnormal sino-atrial and cardiac conduction properties". Acta Physiol (Oxf). 198 (1): 47–59. doi:10.1111/j.1748-1716.2009.02048.x. PMC3763209. PMID 19796257.
Further readingedit
Hirosawa M, Nagase T, Ishikawa K, et al. (2000). "Characterization of cDNA clones selected by the GeneMark analysis from size-fractionated cDNA libraries from human brain". DNA Res. 6 (5): 329–36. doi:10.1093/dnares/6.5.329. PMID 10574461.
Hartley JL, Temple GF, Brasch MA (2001). "DNA Cloning Using In Vitro Site-Specific Recombination". Genome Res. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC310948. PMID 11076863.
Stevens EB, Cox PJ, Shah BS, et al. (2001). "Tissue distribution and functional expression of the human voltage-gated sodium channel beta3 subunit". Pflügers Arch. 441 (4): 481–8. doi:10.1007/s004240000449. PMID 11212211. S2CID 25170955.
Wiemann S, Weil B, Wellenreuther R, et al. (2001). "Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs". Genome Res. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC311072. PMID 11230166.
Simpson JC, Wellenreuther R, Poustka A, et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC1083732. PMID 11256614.
Ratcliffe CF, Westenbroek RE, Curtis R, Catterall WA (2001). "Sodium channel β1 and β3 subunits associate with neurofascin through their extracellular immunoglobulin-like domain". J. Cell Biol. 154 (2): 427–34. doi:10.1083/jcb.200102086. PMC2150779. PMID 11470829.
Meadows LS, Chen YH, Powell AJ, et al. (2002). "Functional modulation of human brain Nav1.3 sodium channels, expressed in mammalian cells, by auxiliary beta 1, beta 2 and beta 3 subunits". Neuroscience. 114 (3): 745–53. doi:10.1016/S0306-4522(02)00242-7. PMID 12220575. S2CID 54320603.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC139241. PMID 12477932.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
Casula MA, Facer P, Powell AJ, et al. (2004). "Expression of the sodium channel beta3 subunit in injured human sensory neurons". NeuroReport. 15 (10): 1629–32. doi:10.1097/01.wnr.0000134927.02776.ae. PMID 15232296. S2CID 26263724.
Adachi K, Toyota M, Sasaki Y, et al. (2004). "Identification of SCN3B as a novel p53-inducible proapoptotic gene". Oncogene. 23 (47): 7791–8. doi:10.1038/sj.onc.1208067. PMID 15334053. S2CID 25309274.
Suzuki Y, Yamashita R, Shirota M, et al. (2004). "Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions". Genome Res. 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC515316. PMID 15342556.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC528928. PMID 15489334.
Wiemann S, Arlt D, Huber W, et al. (2004). "From ORFeome to Biology: A Functional Genomics Pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMC528930. PMID 15489336.
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. PMC1356129. PMID 16344560.
Mehrle A, Rosenfelder H, Schupp I, et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMC1347501. PMID 16381901.
Hakim P, Gurung IS, Pedersen TH, et al. (2008). "Scn3b knockout mice exhibit abnormal ventricular electrophysiological properties". Prog Biophys Mol Biol. 98 (2–3): 251–66. doi:10.1016/j.pbiomolbio.2009.01.005. PMC2764399. PMID 19351516.
scn3b, sodium, channel, subunit, beta, protein, that, humans, encoded, gene, alternatively, spliced, variants, encoding, same, protein, have, been, identified, available, structurespdbortholog, search, pdbe, rcsblist, codes4l1didentifiersaliases, atfb16, brgda. Sodium channel subunit beta 3 is a protein that in humans is encoded by the SCN3B gene 5 6 Two alternatively spliced variants encoding the same protein have been identified SCN3BAvailable structuresPDBOrtholog search PDBe RCSBList of PDB id codes4L1DIdentifiersAliasesSCN3B ATFB16 BRGDA7 HSA243396 SCNB3 sodium voltage gated channel beta subunit 3External IDsOMIM 608214 MGI 1918882 HomoloGene 10176 GeneCards SCN3BGene location Human Chr Chromosome 11 human 1 Band11q24 1Start123 629 187 bp 1 End123 655 244 bp 1 Gene location Mouse Chr Chromosome 9 mouse 2 Band9 9 A5 1Start40 180 513 bp 2 End40 202 914 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inmiddle temporal gyrusorbitofrontal cortexBrodmann area 46entorhinal cortexsuperior frontal gyrusRegion I of hippocampus properprefrontal cortexpostcentral gyrusdorsolateral prefrontal cortexBrodmann area 23Top expressed insuperior cervical ganglionRegion I of hippocampus properolfactory epitheliumdentate gyrushippocampus properexternal carotid arterynucleus accumbenspiriform cortexventral tegmental areasubstantia nigraMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionsodium channel regulator activity transmembrane transporter binding sodium channel activity voltage gated ion channel activity voltage gated sodium channel activity involved in cardiac muscle cell action potential voltage gated sodium channel activity sodium channel inhibitor activityCellular componentvoltage gated sodium channel complex integral component of membrane membrane plasma membrane Z discBiological processregulation of ventricular cardiac muscle cell membrane depolarization membrane depolarization during action potential cardiac muscle contraction sodium ion transmembrane transport sodium ion transport SA node cell action potential regulation of atrial cardiac muscle cell membrane depolarization membrane depolarization ventricular cardiac muscle cell action potential regulation of ion transmembrane transport cardiac muscle cell action potential involved in contraction ion transport nervous system development positive regulation of heart rate cardiac conduction regulation of sodium ion transmembrane transporter activity atrial cardiac muscle cell action potential positive regulation of sodium ion transport sensory perception of pain protein localization to plasma membrane regulation of heart rate by cardiac conduction membrane depolarization during cardiac muscle cell action potentialSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez55800235281EnsemblENSG00000166257ENSMUSG00000049281UniProtQ9NY72Q8BHK2RefSeq mRNA NM 001040151NM 018400NM 001083917NM 001286614NM 153522NM 178227NM 001359700RefSeq protein NP 001035241NP 060870NP 001077386NP 001273543NP 839941NP 001346629Location UCSC Chr 11 123 63 123 66 MbChr 9 40 18 40 2 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 Clinical significance 3 See also 4 References 5 Further reading 6 External linksFunction editVoltage gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit 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 beta subunit gene family and influences the inactivation kinetics of the sodium channel 6 Clinical significance editMutations in the gene are associated with abnormal cardiac electrophysiology 7 8 See also editSodium channelReferences edit a b c GRCh38 Ensembl release 89 ENSG00000166257 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000049281 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 Morgan K Stevens EB Shah B Cox PJ Dixon AK Lee K Pinnock RD Hughes J Richardson PJ Mizuguchi K Jackson AP Apr 2000 b3 An additional auxiliary subunit of the voltage sensitive sodium channel that modulates channel gating with distinct kinetics Proc Natl Acad Sci U S A 97 5 2308 13 Bibcode 2000PNAS 97 2308M doi 10 1073 pnas 030362197 PMC 15797 PMID 10688874 a b Entrez Gene SCN3B sodium channel voltage gated type III beta Hakim P Gurung IS Pedersen TH Thresher R Brice N Lawrence J Grace AA Huang CL 2008 Scn3b knockout mice exhibit abnormal ventricular electrophysiological properties Prog Biophys Mol Biol 98 2 3 251 66 doi 10 1016 j pbiomolbio 2009 01 005 PMC 2764399 PMID 19351516 Hakim P Brice N Thresher R Lawrence J Zhang Y Jackson AP Grace AA Huang CL January 2010 Scn3b knockout mice exhibit abnormal sino atrial and cardiac conduction properties Acta Physiol Oxf 198 1 47 59 doi 10 1111 j 1748 1716 2009 02048 x PMC 3763209 PMID 19796257 Further reading editHirosawa M Nagase T Ishikawa K et al 2000 Characterization of cDNA clones selected by the GeneMark analysis from size fractionated cDNA libraries from human brain DNA Res 6 5 329 36 doi 10 1093 dnares 6 5 329 PMID 10574461 Hartley JL Temple GF Brasch MA 2001 DNA Cloning Using In Vitro Site Specific Recombination Genome Res 10 11 1788 95 doi 10 1101 gr 143000 PMC 310948 PMID 11076863 Stevens EB Cox PJ Shah BS et al 2001 Tissue distribution and functional expression of the human voltage gated sodium channel beta3 subunit Pflugers Arch 441 4 481 8 doi 10 1007 s004240000449 PMID 11212211 S2CID 25170955 Wiemann S Weil B Wellenreuther R et al 2001 Toward a Catalog of Human Genes and Proteins Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs Genome Res 11 3 422 35 doi 10 1101 gr GR1547R PMC 311072 PMID 11230166 Simpson JC Wellenreuther R Poustka A et al 2001 Systematic subcellular localization of novel proteins identified by large scale cDNA sequencing EMBO Rep 1 3 287 92 doi 10 1093 embo reports kvd058 PMC 1083732 PMID 11256614 Ratcliffe CF Westenbroek RE Curtis R Catterall WA 2001 Sodium channel b1 and b3 subunits associate with neurofascin through their extracellular immunoglobulin like domain J Cell Biol 154 2 427 34 doi 10 1083 jcb 200102086 PMC 2150779 PMID 11470829 Meadows LS Chen YH Powell AJ et al 2002 Functional modulation of human brain Nav1 3 sodium channels expressed in mammalian cells by auxiliary beta 1 beta 2 and beta 3 subunits Neuroscience 114 3 745 53 doi 10 1016 S0306 4522 02 00242 7 PMID 12220575 S2CID 54320603 Strausberg RL Feingold EA Grouse LH et al 2003 Generation and initial analysis of more than 15 000 full length human and mouse cDNA sequences Proc Natl Acad Sci U S A 99 26 16899 903 Bibcode 2002PNAS 9916899M doi 10 1073 pnas 242603899 PMC 139241 PMID 12477932 Ota T Suzuki Y Nishikawa T et al 2004 Complete sequencing and characterization of 21 243 full length human cDNAs Nat Genet 36 1 40 5 doi 10 1038 ng1285 PMID 14702039 Casula MA Facer P Powell AJ et al 2004 Expression of the sodium channel beta3 subunit in injured human sensory neurons NeuroReport 15 10 1629 32 doi 10 1097 01 wnr 0000134927 02776 ae PMID 15232296 S2CID 26263724 Adachi K Toyota M Sasaki Y et al 2004 Identification of SCN3B as a novel p53 inducible proapoptotic gene Oncogene 23 47 7791 8 doi 10 1038 sj onc 1208067 PMID 15334053 S2CID 25309274 Suzuki Y Yamashita R Shirota M et al 2004 Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions Genome Res 14 9 1711 8 doi 10 1101 gr 2435604 PMC 515316 PMID 15342556 Gerhard DS Wagner L Feingold EA et al 2004 The Status Quality and Expansion of the NIH Full Length cDNA Project The Mammalian Gene Collection MGC Genome Res 14 10B 2121 7 doi 10 1101 gr 2596504 PMC 528928 PMID 15489334 Wiemann S Arlt D Huber W et al 2004 From ORFeome to Biology A Functional Genomics Pipeline Genome Res 14 10B 2136 44 doi 10 1101 gr 2576704 PMC 528930 PMID 15489336 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 Mehrle A Rosenfelder H Schupp I et al 2006 The LIFEdb database in 2006 Nucleic Acids Res 34 Database issue D415 8 doi 10 1093 nar gkj139 PMC 1347501 PMID 16381901 Hakim P Gurung IS Pedersen TH et al 2008 Scn3b knockout mice exhibit abnormal ventricular electrophysiological properties Prog Biophys Mol Biol 98 2 3 251 66 doi 10 1016 j pbiomolbio 2009 01 005 PMC 2764399 PMID 19351516 External links editGeneReviews NIH NCBI UW entry on Brugada syndrome SCNB3 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 SCN3B amp oldid 1192357146, wikipedia, wiki, book, books, library,
