T3DB: Sodium channel protein type 8 subunit alpha

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Name	Sodium channel protein type 8 subunit alpha
Synonyms	MED Sodium channel protein type VIII subunit alpha Voltage-gated sodium channel subunit alpha Nav1.6
Gene Name	SCN8A
Organism	Human
Amino acid sequence	>lcl\|BSEQ0004086\|Sodium channel protein type 8 subunit alpha MAARLLAPPGPDSFKPFTPESLANIERRIAESKLKKPPKADGSHREDDEDSKPKPNSDLE AGKSLPFIYGDIPQGLVAVPLEDFDPYYLTQKTFVVLNRGKTLFRFSATPALYILSPFNL IRRIAIKILIHSVFSMIIMCTILTNCVFMTFSNPPDWSKNVEYTFTGIYTFESLVKIIAR GFCIDGFTFLRDPWNWLDFSVIMMAYITEFVNLGNVSALRTFRVLRALKTISVIPGLKTI VGALIQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCVVWPINFNESYLENGTKGF DWEEYINNKTNFYTVPGMLEPLLCGNSSDAGQCPEGYQCMKAGRNPNYGYTSFDTFSWAF LALFRLMTQDYWENLYQLTLRAAGKTYMIFFVLVIFVGSFYLVNLILAVVAMAYEEQNQA TLEEAEQKEAEFKAMLEQLKKQQEEAQAAAMATSAGTVSEDAIEEEGEEGGGSPRSSSEI SKLSSKSAKERRNRRKKRKQKELSEGEEKGDPEKVFKSESEDGMRRKAFRLPDNRIGRKF SIMNQSLLSIPGSPFLSRHNSKSSIFSFRGPGRFRDPGSENEFADDEHSTVEESEGRRDS LFIPIRARERRSSYSGYSGYSQGSRSSRIFPSLRRSVKRNSTVDCNGVVSLIGGPGSHIG GRLLPEATTEVEIKKKGPGSLLVSMDQLASYGRKDRINSIMSVVTNTLVEELEESQRKCP PCWYKFANTFLIWECHPYWIKLKEIVNLIVMDPFVDLAITICIVLNTLFMAMEHHPMTPQ FEHVLAVGNLVFTGIFTAEMFLKLIAMDPYYYFQEGWNIFDGFIVSLSLMELSLADVEGL SVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQLFGKS YKECVCKINQDCELPRWHMHDFFHSFLIVFRVLCGEWIETMWDCMEVAGQAMCLIVFMMV MVIGNLVVLNLFLALLLSSFSADNLAATDDDGEMNNLQISVIRIKKGVAWTKLKVHAFMQ AHFKQREADEVKPLDELYEKKANCIANHTGADIHRNGDFQKNGNGTTSGIGSSVEKYIID EDHMSFINNPNLTVRVPIAVGESDFENLNTEDVSSESDPEGSKDKLDDTSSSEGSTIDIK PEVEEVPVEQPEEYLDPDACFTEGCVQRFKCCQVNIEEGLGKSWWILRKTCFLIVEHNWF ETFIIFMILLSSGALAFEDIYIEQRKTIRTILEYADKVFTYIFILEMLLKWTAYGFVKFF TNAWCWLDFLIVAVSLVSLIANALGYSELGAIKSLRTLRALRPLRALSRFEGMRVVVNAL VGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKYHYCFNETSEIRFEIEDVNNKTECEKLM EGNNTEIRWKNVKINFDNVGAGYLALLQVATFKGWMDIMYAAVDSRKPDEQPKYEDNIYM YIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFMTEEQKKYYNAMKKLGSKKP QKPIPRPLNKIQGIVFDFVTQQAFDIVIMMLICLNMVTMMVETDTQSKQMENILYWINLV FVIFFTCECVLKMFALRHYYFTIGWNIFDFVVVILSIVGMFLADIIEKYFVSPTLFRVIR LARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIFSIFGMSNFAYVKHEA GIDDMFNFETFGNSMICLFQITTSAGWDGLLLPILNRPPDCSLDKEHPGSGFKGDCGNPS VGIFFFVSYIIISFLIVVNMYIAIILENFSVATEESADPLSEDDFETFYEIWEKFDPDAT QFIEYCKLADFADALEHPLRVPKPNTIELIAMDLPMVSGDRIHCLDILFAFTKRVLGDSG ELDILRQQMEERFVASNPSKVSYEPITTTLRRKQEEVSAVVLQRAYRGHLARRGFICKKT TSNKLENGGTHREKKESTPSTASLPSYDSVTKPEKEKQQRAEEGRRERAKRQKEVRESKC
Number of residues	1980
Molecular Weight	225278.005
Theoretical pI	6.18
GO Classification	Functions ATP binding voltage-gated sodium channel activity Processes peripheral nervous system development neuromuscular process sodium ion transmembrane transport sensory perception of sound nervous system development response to toxic substance myelination membrane depolarization during action potential neuronal action potential adult walking behavior sodium ion transport muscle organ development Components integral component of membrane dendrite cytoplasmic membrane-bounded vesicle Z disc neuronal cell body axon initial segment node of Ranvier voltage-gated sodium channel complex plasma membrane
General Function	Voltage-gated sodium channel activity
Specific Function	Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation.
Pfam Domain Function	Ion_trans (PF00520 ) IQ (PF00612 ) Na_trans_assoc (PF06512 ) Na_trans_cytopl (PF11933 )
Transmembrane Regions	128-151 160-179 193-211 218-237 253-277 388-413 748-772 784-807 816-835 842-862 878-898 952-977 1194-1217 1231-1256 1263-1284 1289-1310 1330-1351 1438-1464 1518-1541 1553-1576 1583-1606 1617-1638 1654-1676 1742-1766
GenBank Protein ID	4321647
UniProtKB ID	Q9UQD0
UniProtKB Entry Name	SCN8A_HUMAN
Cellular Location	Membrane
Gene sequence	>lcl\|BSEQ0019234\|Sodium channel protein type 8 subunit alpha (SCN8A) ATGGCAGCGCGGCTGCTTGCACCACCAGGCCCTGATAGTTTCAAGCCTTTCACCCCTGAG TCACTGGCAAACATTGAGAGGCGCATTGCTGAGAGCAAGCTCAAGAAACCACCAAAGGCC GATGGCAGTCATCGGGAGGACGATGAGGACAGCAAGCCCAAGCCAAACAGCGACCTGGAA GCAGGGAAGAGTTTGCCTTTCATCTACGGGGACATCCCCCAAGGCCTGGTTGCAGTTCCC CTGGAGGACTTTGACCCATACTATTTGACGCAGAAAACCTTTGTAGTATTAAACAGAGGG AAAACTCTCTTCAGATTTAGTGCCACGCCTGCCTTGTACATTTTAAGTCCTTTTAACCTG ATAAGAAGAATAGCTATTAAAATTTTGATACATTCAGTATTTAGCATGATCATTATGTGC ACTATTTTGACCAACTGTGTATTCATGACTTTTAGTAACCCTCCTGACTGGTCGAAGAAT GTGGAGTACACGTTCACAGGGATTTATACATTTGAATCACTAGTGAAAATCATTGCAAGA GGTTTCTGCATAGATGGCTTTACCTTTTTACGGGACCCATGGAACTGGTTAGATTTCAGT GTCATCATGATGGCGTATATAACAGAGTTTGTAAACCTAGGCAATGTTTCAGCTCTACGC ACTTTCAGGGTACTGAGGGCTTTGAAAACTATTTCGGTAATCCCAGGCCTGAAGACAATT GTGGGTGCCCTGATTCAGTCTGTGAAGAAACTGTCAGATGTGATGATCCTGACAGTGTTC TGCCTGAGTGTTTTTGCCTTGATCGGACTGCAGCTGTTCATGGGGAACCTTCGAAACAAG TGTGTTGTGTGGCCCATAAACTTCAACGAGAGCTATCTTGAAAATGGCACCAAAGGCTTT GATTGGGAAGAGTATATCAACAATAAAACAAATTTCTACACAGTTCCTGGCATGCTGGAA CCTTTACTCTGTGGGAACAGTTCTGATGCTGGGCAATGCCCAGAGGGATACCAGTGTATG AAAGCAGGAAGGAACCCCAACTATGGTTACACAAGTTTTGACACTTTTAGCTGGGCCTTC TTGGCATTATTTCGCCTTATGACCCAGGACTATTGGGAAAACTTGTATCAATTGACTTTA CGAGCAGCCGGGAAAACATACATGATCTTCTTCGTCTTGGTCATCTTTGTGGGTTCTTTC TATCTGGTGAACTTGATCTTGGCTGTGGTGGCCATGGCTTATGAAGAACAGAATCAGGCA ACACTGGAGGAGGCAGAACAAAAAGAGGCTGAATTTAAAGCAATGTTGGAGCAACTTAAG AAGCAACAGGAAGAGGCACAGGCTGCTGCGATGGCCACTTCAGCAGGAACTGTCTCAGAA GATGCCATAGAGGAAGAAGGTGAAGAAGGAGGGGGCTCCCCTCGGAGCTCTTCTGAAATC TCTAAACTCAGCTCAAAGAGTGCAAAGGAAAGACGTAACAGGAGAAAGAAGAGGAAGCAA AAGGAACTCTCTGAAGGAGAGGAGAAAGGGGATCCCGAGAAGGTGTTTAAGTCAGAGTCA GAAGATGGCATGAGAAGGAAGGCCTTTCGGCTGCCAGACAACAGAATAGGGAGGAAATTT TCCATCATGAATCAGTCACTGCTCAGCATCCCAGGCTCGCCCTTCCTCTCCCGCCACAAC AGCAAGAGCAGCATCTTCAGTTTCAGGGGACCTGGGCGGTTCCGAGACCCGGGCTCCGAG AATGAGTTCGCGGATGACGAGCACAGCACGGTGGAGGAGAGCGAGGGCCGCCGGGACTCC CTCTTCATCCCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTACAGCGGCTAC AGCCAGGGCAGCCGCTCCTCGCGCATCTTCCCCAGCCTGCGGCGCAGCGTGAAGCGCAAC AGCACGGTGGACTGCAACGGCGTGGTGTCCCTCATCGGCGGCCCCGGCTCCCACATCGGC GGGCGTCTCCTGCCAGAGGCTACAACTGAGGTGGAAATTAAGAAGAAAGGCCCTGGATCT CTTTTAGTTTCCATGGACCAATTAGCCTCCTACGGGCGGAAGGACAGAATCAACAGTATA ATGAGTGTTGTTACAAATACACTAGTAGAAGAACTGGAAGAGTCTCAGAGAAAGTGCCCG CCATGCTGGTATAAATTTGCCAACACTTTCCTCATCTGGGAGTGCCACCCCTACTGGATA AAACTGAAAGAGATTGTGAACTTGATAGTTATGGACCCTTTTGTGGATTTAGCCATCACC ATCTGCATCGTCCTGAATACACTGTTTATGGCAATGGAGCACCATCCTATGACACCACAA TTTGAACATGTCTTGGCTGTAGGAAATCTGGTTTTCACTGGAATTTTCACAGCGGAAATG TTCCTGAAGCTCATAGCCATGGATCCCTACTATTATTTCCAAGAAGGTTGGAACATTTTT GACGGATTTATTGTCTCCCTCAGTTTAATGGAACTGAGTCTAGCAGACGTGGAGGGGCTT TCAGTGCTGCGATCTTTCCGATTGCTCCGAGTCTTCAAATTGGCCAAATCCTGGCCCACC CTGAACATGCTAATCAAGATTATTGGAAATTCAGTGGGTGCCCTGGGCAACCTGACACTG GTGCTGGCCATTATTGTCTTCATCTTTGCCGTGGTGGGGATGCAACTCTTTGGAAAAAGC TACAAAGAGTGTGTCTGCAAGATCAACCAGGACTGTGAACTCCCTCGCTGGCATATGCAT GACTTTTTCCATTCCTTCCTCATTGTCTTTCGAGTGTTGTGCGGGGAGTGGATTGAGACC ATGTGGGACTGCATGGAAGTGGCAGGCCAGGCCATGTGCCTCATTGTCTTTATGATGGTC ATGGTGATTGGCAACTTGGTGGTGCTGAACCTGTTTCTGGCCTTGCTCCTGAGCTCCTTC AGTGCAGACAACCTGGCTGCCACAGATGACGATGGGGAAATGAACAACCTCCAGATCTCA GTGATCCGTATCAAGAAGGGTGTGGCCTGGACCAAACTAAAGGTGCACGCCTTCATGCAG GCCCACTTTAAGCAGCGTGAGGCTGATGAGGTGAAGCCTCTGGATGAGTTGTATGAAAAG AAGGCCAACTGTATCGCCAATCACACCGGTGCAGACATCCACCGGAATGGTGACTTCCAG AAGAATGGCAATGGCACAACCAGCGGCATTGGCAGCAGCGTGGAGAAGTACATCATTGAT GAGGACCACATGTCCTTCATCAACAACCCCAACTTGACTGTACGGGTACCCATTGCTGTG GGCGAGTCTGACTTTGAGAACCTCAACACAGAGGATGTTAGCAGCGAGTCGGATCCTGAA GGCAGCAAAGATAAACTAGATGACACCAGCTCCTCTGAAGGAAGCACCATTGATATCAAA CCAGAAGTAGAAGAGGTCCCTGTGGAACAGCCTGAGGAATACTTGGATCCAGATGCCTGC TTCACAGAAGGTTGTGTCCAGCGGTTCAAGTGCTGCCAGGTCAACATCGAGGAAGGGCTA GGCAAGTCTTGGTGGATCCTGCGGAAAACCTGCTTCCTCATCGTGGAGCACAACTGGTTT GAGACCTTCATCATCTTCATGATTCTGCTGAGCAGTGGCGCCCTGGCCTTCGAGGACATC TACATTGAGCAGAGAAAGACCATCCGCACCATCCTGGAATATGCTGACAAAGTCTTCACC TATATCTTCATCCTGGAGATGTTGCTCAAGTGGACAGCCTATGGCTTCGTCAAGTTCTTC ACCAATGCCTGGTGTTGGCTGGACTTCCTCATTGTGGCTGTGGTGGTGAATGCCTTGGTG GGCGCCATCCCCTCCATCATGAATGTGCTGCTGGTGTGTCTCATCTTCTGGCTGATTTTC AGCATCATGGGAGTTAACTTGTTTGCGGGAAAGTACCACTACTGCTTTAATGAGACTTCT GAAATCCGATTTGAAATTGAAGATGTCAACAATAAAACTGAATGTGAAAAGCTTATGGAG GGGAACAATACAGAGATCAGATGGAAGAACGTGAAGATCAACTTTGACAATGTTGGGGCA GGATACCTGGCCCTTCTTCAAGTAGCAACCTTCAAAGGCTGGATGGACATCATGTATGCA GCTGTAGATTCCCGGAAGCCTGATGAGCAGCCTAAGTATGAGGACAATATCTACATGTAC ATCTATTTTGTCATCTTCATCATCTTCGGCTCCTTCTTCACCCTGAACCTGTTCATTGGT GTCATCATTGATAACTTCAATCAACAAAAGAAAAAGTTCGGAGGTCAGGACATCTTCATG ACCGAAGAACAGAAGAAGTACTACAATGCCATGAAAAAGCTGGGCTCAAAGAAGCCACAG AAACCTATTCCCCGCCCCTTGAACAAAATCCAAGGAATCGTCTTTGATTTTGTCACTCAG CAAGCCTTTGACATTGTTATCATGATGCTCATCTGCCTTAACATGGTGACAATGATGGTG GAGACAGACACTCAAAGCAAGCAGATGGAGAACATCCTCTACTGGATTAACCTGGTGTTT GTTATCTTCTTCACCTGTGAGTGTGTGCTCAAAATGTTTGCGTTGAGGCACTACTACTTC ACCATTGGCTGGAACATCTTCGACTTCGTGGTAGTCATCCTCTCCATTGTGGGAATGTTC CTGGCAGATATAATTGAGAAATACTTTGTTTCCCCAACCCTATTCCGAGTCATCCGATTG GCCCGTATTGGGCGCATCTTGCGTCTGATCAAAGGCGCCAAAGGGATTCGTACCCTGCTC TTTGCCTTAATGATGTCCTTGCCTGCCCTGTTCAACATCGGCCTTCTGCTCTTCCTGGTC ATGTTCATCTTCTCCATTTTTGGGATGTCCAATTTTGCATATGTGAAGCACGAGGCTGGT ATCGATGACATGTTCAACTTTGAGACATTTGGCAACAGCATGATCTGCCTGTTTCAAATC ACAACCTCAGCTGGTTGGGATGGCCTGCTGCTGCCCATCCTAAACCGCCCCCCTGACTGC AGCCTAGATAAGGAACACCCAGGGAGTGGCTTTAAGGGAGATTGTGGGAACCCCTCAGTG GGCATCTTCTTCTTTGTAAGCTACATCATCATCTCTTTCCTAATTGTCGTGAACATGTAC ATTGCCATCATCCTGGAGAACTTCAGTGTAGCCACAGAGGAAAGTGCAGACCCTCTGAGT GAGGATGACTTTGAGACCTTCTATGAGATCTGGGAGAAGTTCGACCCCGATGCCACCCAG TTCATTGAGTACTGTAAGCTGGCAGACTTTGCAGATGCCTTGGAGCATCCTCTCCGAGTG CCCAAGCCCAATACCATTGAGCTCATCGCTATGGATCTGCCAATGGTGAGCGGGGATCGC ATCCACTGCTTGGACATCCTTTTTGCCTTCACCAAGCGGGTCCTGGGAGATAGCGGGGAG TTGGACATCCTGCGGCAGCAGATGGAAGAGCGGTTCGTGGCATCCAATCCTTCCAAAGTG TCTTACGAGCCAATCACAACCACACTGCGTCGCAAGCAGGAGGAGGTATCTGCAGTGGTC CTGCAGCGTGCCTACCGGGGACATTTGGCAAGGCGGGGCTTCATCTGCAAAAAGACAACT TCTAATAAGCTGGAGAATGGAGGCACACACCGGGAGAAAAAAGAGAGCACCCCATCTACA GCCTCCCTCCCGTCCTATGACAGTGTAACTAAACCTGAAAAGGAGAAACAGCAGCGGGCA GAGGAAGGAAGAAGGGAAAGAGCCAAAAGACAAAAAGAGGTCAGAGAATCCAAGTGTTAG
GenBank Gene ID	AF050736
GeneCard ID	Not Available
GenAtlas ID	SCN8A
HGNC ID	HGNC:10596
Chromosome Location	12
Locus	12q13
References	Plummer NW, McBurney MW, Meisler MH: Alternative splicing of the sodium channel SCN8A predicts a truncated two-domain protein in fetal brain and non-neuronal cells. J Biol Chem. 1997 Sep 19;272(38):24008-15. 9295353 Plummer NW, Galt J, Jones JM, Burgess DL, Sprunger LK, Kohrman DC, Meisler MH: Exon organization, coding sequence, physical mapping, and polymorphic intragenic markers for the human neuronal sodium channel gene SCN8A. Genomics. 1998 Dec 1;54(2):287-96. 9828131 Carrithers MD, Chatterjee G, Carrithers LM, Offoha R, Iheagwara U, Rahner C, Graham M, Waxman SG: Regulation of podosome formation in macrophages by a splice variant of the sodium channel SCN8A. J Biol Chem. 2009 Mar 20;284(12):8114-26. doi: 10.1074/jbc.M801892200. 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Nature. 2006 Mar 16;440(7082):346-51. 16541075 Wittmack EK, Rush AM, Craner MJ, Goldfarb M, Waxman SG, Dib-Hajj SD: Fibroblast growth factor homologous factor 2B: association with Nav1.6 and selective colocalization at nodes of Ranvier of dorsal root axons. J Neurosci. 2004 Jul 28;24(30):6765-75. 15282281 Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH: Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation. J Med Genet. 2006 Jun;43(6):527-30. Epub 2005 Oct 19. 16236810 Veeramah KR, O'Brien JE, Meisler MH, Cheng X, Dib-Hajj SD, Waxman SG, Talwar D, Girirajan S, Eichler EE, Restifo LL, Erickson RP, Hammer MF: De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am J Hum Genet. 2012 Mar 9;90(3):502-10. doi: 10.1016/j.ajhg.2012.01.006. Epub 2012 Feb 23. 22365152 Vaher U, Noukas M, Nikopensius T, Kals M, Annilo T, Nelis M, Ounap K, Reimand T, Talvik I, Ilves P, Piirsoo A, Seppet E, Metspalu A, Talvik T: De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders. J Child Neurol. 2014 Dec;29(12):NP202-6. doi: 10.1177/0883073813511300. Epub 2013 Dec 18. 24352161 Ohba C, Kato M, Takahashi S, Lerman-Sagie T, Lev D, Terashima H, Kubota M, Kawawaki H, Matsufuji M, Kojima Y, Tateno A, Goldberg-Stern H, Straussberg R, Marom D, Leshinsky-Silver E, Nakashima M, Nishiyama K, Tsurusaki Y, Miyake N, Tanaka F, Matsumoto N, Saitsu H: Early onset epileptic encephalopathy caused by de novo SCN8A mutations. Epilepsia. 2014 Jul;55(7):994-1000. doi: 10.1111/epi.12668. 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