Sodium channel protein type 11 subunit alpha

NameSodium channel protein type 11 subunit alpha
SynonymshNaN 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 NameSCN11A
OrganismHuman
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 residues1791
Molecular Weight204919.66
Theoretical pI8.04
GO Classification
Functions
    voltage-gated sodium channel activity
Processes
    membrane depolarization during action potential
neuronal action potential
regulation of sensory perception of pain
sodium ion transport
response to drug
sodium ion transmembrane transport
Components
    C-fiber
voltage-gated sodium channel complex
plasma membrane
extracellular exosome
General FunctionVoltage-gated sodium channel activity
Specific FunctionThis 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.
Transmembrane Regions127-148 157-180 193-212 220-239 256-269 377-402 573-596 608-631 640-659 668-687 703-725 786-811 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 ID6572950
UniProtKB IDQ9UI33
UniProtKB Entry NameSCNBA_HUMAN
Cellular LocationMembrane
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 IDAF188679
GeneCard IDNone
GenAtlas IDSCN11A
HGNC IDHGNC:10583
Chromosome Location3
Locus3p24-p21
References
  1. 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 ]
  2. 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 ]
  3. 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 ]
  4. 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 ]
  5. Delmas P, Coste B: Na+ channel Nav1.9: in search of a gating mechanism. Trends Neurosci. 2003 Feb;26(2):55-7.[12536125 ]
  6. 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 ]
  7. 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 ]
  8. 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 ]

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