T3DB: Sodium channel protein type 11 subunit alpha

Name	Sodium channel protein type 11 subunit alpha
Synonyms	hNaN Peripheral nerve sodium channel 5 PN5 SCN12A Sensory neuron sodium channel 2 SNS2 Sodium channel protein type XI subunit alpha Voltage-gated sodium channel subunit alpha Nav1.9
Gene Name	SCN11A
Organism	Human
Amino acid sequence	>lcl\|BSEQ0036968\|Sodium channel protein type 11 subunit alpha MDDRCYPVIFPDERNFRPFTSDSLAAIEKRIAIQKEKKKSKDQTGEVPQPRPQLDLKASR KLPKLYGDIPRELIGKPLEDLDPFYRNHKTFMVLNRKRTIYRFSAKHALFIFGPFNSIRS LAIRVSVHSLFSMFIIGTVIINCVFMATGPAKNSNSNNTDIAECVFTGIYIFEALIKILA RGFILDEFSFLRDPWNWLDSIVIGIAIVSYIPGITIKLLPLRTFRVFRALKAISVVSRLK VIVGALLRSVKKLVNVIILTFFCLSIFALVGQQLFMGSLNLKCISRDCKNISNPEAYDHC FEKKENSPEFKMCGIWMGNSACSIQYECKHTKINPDYNYTNFDNFGWSFLAMFRLMTQDS WEKLYQQTLRTTGLYSVFFFIVVIFLGSFYLINLTLAVVTMAYEEQNKNVAAEIEAKEKM FQEAQQLLKEEKEALVAMGIDRSSLTSLETSYFTPKKRKLFGNKKRKSFFLRESGKDQPP GSDSDEDCQKKPQLLEQTKRLSQNLSLDHFDEHGDPLQRQRALSAVSILTITMKEQEKSQ EPCLPCGENLASKYLVWNCCPQWLCVKKVLRTVMTDPFTELAITICIIINTVFLAMEHHK MEASFEKMLNIGNLVFTSIFIAEMCLKIIALDPYHYFRRGWNIFDSIVALLSFADVMNCV LQKRSWPFLRSFRVLRVFKLAKSWPTLNTLIKIIGNSVGALGSLTVVLVIVIFIFSVVGM QLFGRSFNSQKSPKLCNPTGPTVSCLRHWHMGDFWHSFLVVFRILCGEWIENMWECMQEA NASSSLCVIVFILITVIGKLVVLNLFIALLLNSFSNEERNGNLEGEARKTKVQLALDRFR RAFCFVRHTLEHFCHKWCRKQNLPQQKEVAGGCAAQSKDIIPLVMEMKRGSETQEELGIL TSVPKTLGVRHDWTWLAPLAEEEDDVEFSGEDNAQRITQPEPEQQAYELHQENKKPTSQR VQSVEIDMFSEDEPHLTIQDPRKKSDVTSILSECSTIDLQDGFGWLPEMVPKKQPERCLP KGFGCCFPCCSVDKRKPPWVIWWNLRKTCYQIVKHSWFESFIIFVILLSSGALIFEDVHL ENQPKIQELLNCTDIIFTHIFILEMVLKWVAFGFGKYFTSAWCCLDFIIVIVSVTTLINL MELKSFRTLRALRPLRALSQFEGMKVVVNALIGAIPAILNVLLVCLIFWLVFCILGVYFF SGKFGKCINGTDSVINYTIITNKSQCESGNFSWINQKVNFDNVGNAYLALLQVATFKGWM DIIYAAVDSTEKEQQPEFESNSLGYIYFVVFIIFGSFFTLNLFIGVIIDNFNQQQKKLGG QDIFMTEEQKKYYNAMKKLGSKKPQKPIPRPLNKCQGLVFDIVTSQIFDIIIISLIILNM ISMMAESYNQPKAMKSILDHLNWVFVVIFTLECLIKIFALRQYYFTNGWNLFDCVVVLLS IVSTMISTLENQEHIPFPPTLFRIVRLARIGRILRLVRAARGIRTLLFALMMSLPSLFNI GLLLFLIMFIYAILGMNWFSKVNPESGIDDIFNFKTFASSMLCLFQISTSAGWDSLLSPM LRSKESCNSSSENCHLPGIATSYFVSYIIISFLIVVNMYIAVILENFNTATEESEDPLGE DDFDIFYEVWEKFDPEATQFIKYSALSDFADALPEPLRVAKPNKYQFLVMDLPMVSEDRL HCMDILFAFTARVLGGSDGLDSMKAMMEEKFMEANPLKKLYEPIVTTTKRKEEERGAAII QKAFRKYMMKVTKGDQGDQNDLENGPHSPLQTLCNGDLSSFGVAKGKVHCD
Number of residues	1791
Molecular Weight	204919.66
Theoretical pI	8.04
GO Classification	Functions voltage-gated sodium channel activity Processes sodium ion transport response to drug sodium ion transmembrane transport membrane depolarization during action potential neuronal action potential regulation of sensory perception of pain Components voltage-gated sodium channel complex plasma membrane extracellular exosome C-fiber
General Function	Voltage-gated sodium channel activity
Specific Function	This protein 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 sodium ions may pass in accordance with their electrochemical gradient. It is a tetrodotoxin-resistant sodium channel isoform. Also involved, with the contribution of the receptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronal depolarization.
Pfam Domain Function	Ion_trans (PF00520 ) Na_trans_assoc (PF06512 )
Transmembrane Regions	127-148 157-180 193-212 220-239 256-269 377-402 573-596 608-631 640-659 668-687 703-725 786-811 1052-1074 1089-1114 1121-1138 1140-1161 1181-1202 1282-1308 1362-1385 1397-1420 1427-1450 1462-1484 1500-1522 1580-1604
GenBank Protein ID	6572950
UniProtKB ID	Q9UI33
UniProtKB Entry Name	SCNBA_HUMAN
Cellular Location	Membrane
Gene sequence	>lcl\|BSEQ0010195\|Sodium channel protein type 11 subunit alpha (SCN11A) ATGGATGACAGATGCTACCCAGTAATCTTTCCAGATGAGCGGAATTTCCGCCCCTTCACT TCCGACTCTCTGGCTGCAATTGAGAAGCGGATTGCCATCCAAAAGGAGAAAAAGAAGTCT AAAGACCAGACAGGAGAAGTACCCCAGCCTCGGCCTCAGCTTGACCTAAAGGCCTCCAGG AAGTTGCCCAAGCTCTATGGCGACATTCCTCGTGAGCTCATAGGAAAGCCTCTGGAAGAC TTGGACCCATTCTACCGAAATCATAAGACATTTATGGTGTTAAACAGAAAGAGGACAATC TACCGCTTCAGTGCCAAGCATGCCTTGTTCATTTTTGGGCCTTTCAATTCAATCAGAAGT TTAGCCATTAGAGTCTCAGTCCATTCATTGTTCAGCATGTTCATTATCGGCACCGTTATC ATCAACTGCGTGTTCATGGCTACAGGGCCTGCTAAAAACAGCAACAGTAACAATACTGAC ATTGCAGAGTGTGTCTTCACTGGGATTTATATTTTTGAAGCTTTGATTAAAATATTGGCA AGAGGTTTCATTCTGGATGAGTTTTCTTTCCTTCGAGATCCATGGAACTGGCTGGACTCC ATTGTCATTGGAATAGCGATTGTGTCATATATTCCAGGAATCACCATCAAACTATTGCCC CTGCGTACCTTCCGTGTGTTCAGAGCTTTGAAAGCAATTTCAGTAGTTTCACGTCTGAAG GTCATCGTGGGGGCCTTGCTACGCTCTGTGAAGAAGCTGGTCAACGTGATTATCCTCACC TTCTTTTGCCTCAGCATCTTTGCCCTGGTAGGTCAGCAGCTCTTCATGGGAAGTCTGAAC CTGAAATGCATCTCGAGGGACTGTAAAAATATCAGTAACCCGGAAGCTTATGACCATTGC TTTGAAAAGAAAGAAAATTCACCTGAATTCAAAATGTGTGGCATCTGGATGGGTAACAGT GCCTGTTCCATACAATATGAATGTAAGCACACCAAAATTAATCCTGACTATAATTATACG AATTTTGACAACTTTGGCTGGTCTTTTCTTGCCATGTTCCGGCTGATGACCCAAGATTCC TGGGAGAAGCTTTATCAACAGACCCTGCGTACTACTGGGCTCTACTCAGTCTTCTTCTTC ATTGTGGTCATTTTCCTGGGCTCCTTCTACCTGATTAACTTAACCCTGGCTGTTGTTACC ATGGCATATGAGGAGCAGAACAAGAATGTAGCTGCAGAGATAGAGGCCAAGGAAAAGATG TTTCAGGAAGCCCAGCAGCTGTTAAAGGAGGAAAAGGAGGCTCTGGTTGCCATGGGAATT GACAGAAGTTCACTTACTTCCCTTGAAACATCATATTTTACCCCAAAAAAGAGAAAGCTC TTTGGTAATAAGAAAAGGAAGTCCTTCTTTTTGAGAGAGTCTGGGAAAGACCAGCCTCCT GGGTCAGATTCTGATGAAGATTGCCAAAAAAAGCCACAGCTCCTAGAGCAAACCAAACGA CTGTCCCAGAATCTATCACTGGACCACTTTGATGAGCATGGAGATCCTCTCCAAAGGCAG AGAGCACTGAGTGCTGTCAGCATCCTCACCATCACCATGAAGGAACAAGAAAAATCACAA GAGCCTTGTCTCCCTTGTGGAGAAAACCTGGCATCCAAGTACCTCGTGTGGAACTGTTGC CCCCAGTGGCTGTGCGTTAAGAAGGTCCTGAGAACTGTGATGACTGACCCGTTTACTGAG CTGGCCATCACCATCTGCATCATCATCAACACTGTCTTCTTGGCCATGGAGCATCACAAG ATGGAGGCCAGTTTTGAGAAGATGTTGAATATAGGGAATTTGGTTTTCACTAGCATTTTT ATAGCAGAAATGTGCCTAAAAATCATTGCGCTCGATCCCTACCACTACTTTCGCCGAGGC TGGAACATTTTTGACAGCATTGTTGCTCTTCTGAGTTTTGCAGATGTAATGAACTGTGTA CTTCAAAAGAGAAGCTGGCCATTCTTGCGTTCCTTCAGAGTGCTCAGGGTCTTCAAGTTA GCCAAATCCTGGCCAACTTTGAACACACTAATTAAGATAATCGGCAACTCTGTCGGAGCC CTTGGAAGCCTGACTGTGGTCCTGGTCATTGTGATCTTTATTTTCTCAGTAGTTGGCATG CAGCTTTTTGGCCGTAGCTTCAATTCCCAAAAGAGTCCAAAACTCTGTAACCCGACAGGC CCGACAGTCTCATGTTTACGGCACTGGCACATGGGGGATTTCTGGCACTCCTTCCTAGTG GTATTCCGCATCCTCTGCGGGGAATGGATCGAAAATATGTGGGAATGTATGCAAGAAGCG AATGCATCATCATCATTGTGTGTTATTGTCTTCATATTGATCACGGTGATAGGAAAACTT GTGGTGCTCAACCTCTTCATTGCCTTACTGCTCAATTCCTTTAGCAATGAGGAAAGAAAT GGAAACTTAGAAGGAGAGGCCAGGAAAACTAAAGTCCAGTTAGCACTGGATCGATTCCGC CGGGCTTTTTGTTTTGTGAGACACACTCTTGAGCATTTCTGTCACAAGTGGTGCAGGAAG CAAAACTTACCACAGCAAAAAGAGGTGGCAGGAGGCTGTGCTGCACAAAGCAAAGACATC ATTCCCCTGGTCATGGAGATGAAAAGGGGCTCAGAGACCCAGGAGGAGCTTGGTATACTA ACCTCTGTACCAAAGACCCTGGGCGTCAGGCATGATTGGACTTGGTTGGCACCACTTGCG GAGGAGGAAGATGACGTTGAATTTTCTGGTGAAGATAATGCACAGCGCATCACACAACCT GAGCCTGAACAACAGGCCTATGAGCTCCATCAGGAGAACAAGAAGCCCACGAGCCAGAGA GTTCAAAGTGTGGAAATTGACATGTTCTCTGAAGATGAGCCTCATCTGACCATACAGGAT CCCCGAAAGAAGTCTGATGTTACCAGTATACTATCAGAATGTAGCACCATTGATCTTCAG GATGGCTTTGGATGGTTACCTGAGATGGTTCCCAAAAAGCAACCAGAGAGATGTTTGCCC AAAGGCTTTGGTTGCTGCTTTCCATGCTGTAGCGTGGACAAGAGAAAGCCTCCCTGGGTC ATTTGGTGGAACCTGCGGAAAACCTGCTACCAAATAGTGAAACACAGCTGGTTTGAGAGC TTTATTATCTTTGTGATTCTGCTGAGCAGTGGGGCACTGATATTTGAAGATGTTCACCTT GAGAACCAACCCAAAATCCAAGAATTACTAAATTGTACTGACATTATTTTTACACATATT TTTATCCTGGAGATGGTACTAAAATGGGTAGCCTTCGGATTTGGAAAGTATTTCACCAGT GCCTGGTGCTGCCTTGATTTCATCATTGTGATTGTCTCTGTGACCACCCTCATTAACTTA ATGGAATTGAAGTCCTTCCGGACTCTACGAGCACTGAGGCCTCTTCGTGCGCTGTCCCAG TTTGAAGGAATGAAGGTGGTGGTCAATGCTCTCATAGGTGCCATACCTGCCATTCTGAAT GTTTTGCTTGTCTGCCTCATTTTCTGGCTCGTATTTTGTATTCTGGGAGTATACTTCTTT TCTGGAAAATTTGGGAAATGCATTAATGGAACAGACTCAGTTATAAATTATACCATCATT ACAAATAAAAGTCAATGTGAAAGTGGCAATTTCTCTTGGATCAACCAGAAAGTCAACTTT GACAATGTGGGAAATGCTTACCTCGCTCTGCTGCAAGTGGCAACATTTAAGGGCTGGATG GATATTATATATGCAGCTGTTGATTCCACAGAGAAAGAACAACAGCCAGAGTTTGAGAGC AATTCACTCGGTTACATTTACTTCGTAGTCTTTATCATCTTTGGCTCATTCTTCACTCTG AATCTCTTCATTGGCGTTATCATTGACAACTTCAACCAACAGCAGAAAAAGTTAGGTGGC CAAGACATTTTTATGACAGAAGAACAGAAGAAATACTATAATGCAATGAAAAAATTAGGA TCCAAAAAACCTCAAAAACCCATTCCACGGCCTCTGAACAAATGTCAAGGTCTCGTGTTC GACATAGTCACAAGCCAGATCTTTGACATCATCATCATAAGTCTCATTATCCTAAACATG ATTAGCATGATGGCTGAATCATACAACCAACCCAAAGCCATGAAATCCATCCTTGACCAT CTCAACTGGGTCTTTGTGGTCATCTTTACGTTAGAATGTCTCATCAAAATCTTTGCTTTG AGGCAATACTACTTCACCAATGGCTGGAATTTATTTGACTGTGTGGTCGTGCTTCTTTCC ATTGTTAGTACAATGATTTCTACCTTGGAAAATCAGGAGCACATTCCTTTCCCTCCGACG CTCTTCAGAATTGTCCGCTTGGCTCGGATTGGCCGAATCCTGAGGCTTGTCCGGGCTGCA CGAGGAATCAGGACTCTCCTCTTTGCTCTGATGATGTCGCTTCCTTCTCTGTTCAACATT GGTCTTCTACTCTTTCTGATTATGTTTATCTATGCCATTCTGGGTATGAACTGGTTTTCC AAAGTGAATCCAGAGTCTGGAATCGATGACATATTCAACTTCAAGACTTTTGCCAGCAGC ATGCTCTGTCTCTTCCAGATAAGCACATCAGCAGGTTGGGATTCCCTGCTCAGCCCCATG CTGCGATCAAAAGAATCATGTAACTCTTCCTCAGAAAACTGCCACCTCCCTGGCATAGCC ACATCCTACTTTGTCAGTTACATTATCATCTCCTTTCTCATTGTTGTCAACATGTACATT GCTGTGATTTTAGAGAACTTCAATACAGCCACTGAAGAAAGTGAGGACCCTTTGGGTGAA GATGACTTTGACATATTTTATGAAGTGTGGGAAAAGTTTGACCCAGAAGCAACACAATTT ATCAAATATTCTGCCCTTTCTGACTTTGCTGATGCCTTGCCTGAGCCTTTGCGTGTCGCA AAGCCAAATAAATATCAATTTCTAGTAATGGACTTGCCCATGGTGAGTGAAGATCGCCTC CACTGCATGGATATTCTTTTCGCCTTCACCGCTAGGGTACTCGGTGGCTCTGATGGCCTA GATAGTATGAAAGCAATGATGGAAGAGAAGTTCATGGAAGCCAATCCTCTCAAGAAGTTG TATGAACCCATAGTCACCACCACCAAGAGAAAGGAAGAGGAAAGAGGTGCTGCTATTATT CAAAAGGCCTTTCGAAAGTACATGATGAAGGTGACCAAGGGTGACCAAGGTGACCAAAAT GACTTGGAAAACGGGCCTCATTCACCACTCCAGACTCTTTGCAATGGAGACTTGTCTAGC TTTGGGGTGGCCAAGGGCAAGGTCCACTGTGACTGA
GenBank Gene ID	AF188679
GeneCard ID	Not Available
GenAtlas ID	SCN11A
HGNC ID	HGNC:10583
Chromosome Location	3
Locus	3p24-p21
References	Dib-Hajj SD, Tyrrell L, Cummins TR, Black JA, Wood PM, Waxman SG: Two tetrodotoxin-resistant sodium channels in human dorsal root ganglion neurons. FEBS Lett. 1999 Nov 26;462(1-2):117-20. 10580103 Jeong SY, Goto J, Hashida H, Suzuki T, Ogata K, Masuda N, Hirai M, Isahara K, Uchiyama Y, Kanazawa I: Identification of a novel human voltage-gated sodium channel alpha subunit gene, SCN12A. Biochem Biophys Res Commun. 2000 Jan 7;267(1):262-70. 10623608 Blum R, Kafitz KW, Konnerth A: Neurotrophin-evoked depolarization requires the sodium channel Na(V)1.9. Nature. 2002 Oct 17;419(6908):687-93. 12384689 Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C, Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X, Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M, Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez J, Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L, Wang J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang X, Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor SL, Yang H, Olson M, Weinstock G, Gibbs RA: The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27;440(7088):1194-8. 16641997 Raymond CK, Castle J, Garrett-Engele P, Armour CD, Kan Z, Tsinoremas N, Johnson JM: Expression of alternatively spliced sodium channel alpha-subunit genes. Unique splicing patterns are observed in dorsal root ganglia. J Biol Chem. 2004 Oct 29;279(44):46234-41. Epub 2004 Aug 9. 15302875 Delmas P, Coste B: Na+ channel Nav1.9: in search of a gating mechanism. Trends Neurosci. 2003 Feb;26(2):55-7. 12536125 Zhang XY, Wen J, Yang W, Wang C, Gao L, Zheng LH, Wang T, Ran K, Li Y, Li X, Xu M, Luo J, Feng S, Ma X, Ma H, Chai Z, Zhou Z, Yao J, Zhang X, Liu JY: Gain-of-function mutations in SCN11A cause familial episodic pain. Am J Hum Genet. 2013 Nov 7;93(5):957-66. doi: 10.1016/j.ajhg.2013.09.016. Epub 2013 Oct 24. 24207120 Leipold E, Liebmann L, Korenke GC, Heinrich T, Giesselmann S, Baets J, Ebbinghaus M, Goral RO, Stodberg T, Hennings JC, Bergmann M, Altmuller J, Thiele H, Wetzel A, Nurnberg P, Timmerman V, De Jonghe P, Blum R, Schaible HG, Weis J, Heinemann SH, Hubner CA, Kurth I: A de novo gain-of-function mutation in SCN11A causes loss of pain perception. Nat Genet. 2013 Nov;45(11):1399-404. doi: 10.1038/ng.2767. Epub 2013 Sep 15. 24036948