Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.
| RefSeq Version | NM_006514.2, 110835709 |
| Length | 5874 bp |
| Structure | linear |
| Update Date | 09-APR-2011 |
| Organism | Homo sapiens (human) |
| Definition | Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. |
| Product | sodium channel protein type 10 subunit alpha |
| Comment | Summary: Voltage-gated sodium channels are integral membrane glycoproteins that are responsible for the initial rising phase of action in most excitable cells. They are composed of a large alpha subunit that may be associated with one or more smaller beta subunits. Sodium channels can be differentiated by their primary structure, kinetics, and relative sensitivity to the neurotoxin tetrodotoxin (TTX). Sodium channels, particularly those with TTX-resistant currents, have been found to accumulate in the region of peripheral nerve injury and may be important in chronic pain. SCN10A encodes a TTX-resistant channel that is restricted to the peripheral sensory nervous system (Rabert et al., 1998 [PubMed 9839820]).[supplied by OMIM]. |
| RefSeq | NP_006505.2 |
| CDS | 1..5871 | Exon (1) | 1..270 | Exon (2) | 271..389 | Exon (3) | 390..470 | Exon (4) | 471..599 | Exon (5) | 600..691 | Exon (6) | 692..883 | Exon (7) | 884..950 | Exon (8) | 951..1092 | Exon (9) | 1093..1290 | Exon (10) | 1291..1461 | Exon (11) | 1462..1755 | Exon (12) | 1756..1867 | Exon (13) | 1868..2106 | Exon (14) | 2107..2280 | Exon (15) | 2281..2640 | Exon (16) | 2641..3087 | Exon (17) | 3088..3228 | Exon (18) | 3229..3352 | Exon (19) | 3353..3507 | Exon (20) | 3508..3681 | Exon (21) | 3682..3804 | Exon (22) | 3805..4089 | Exon (23) | 4090..4143 | Exon (24) | 4144..4281 | Exon (25) | 4282..4386 | Exon (26) | 4387..4657 | Exon (27) | 4658..5874 |
| Translation | MEFPIGSLETNNFRRFTPESLVEIEKQIAAKQGTKKAREKHREQKDQEEKPRPQLDLKAC
NQLPKFYGELPAELIGEPLEDLDPFYSTHRTFMVLNKGRTISRFSATRALWLFSPFNLIR
RTAIKVSVHSWFSLFITVTILVNCVCMTRTDLPEKIEYVFTVIYTFEALIKILARGFCLN
EFTYLRDPWNWLDFSVITLAYVGTAIDLRGISGLRTFRVLRALKTVSVIPGLKVIVGALI
HSVKKLADVTILTIFCLSVFALVGLQLFKGNLKNKCVKNDMAVNETTNYSSHRKPDIYIN
KRGTSDPLLCGNGSDSGHCPDGYICLKTSDNPDFNYTSFDSFAWAFLSLFRLMTQDSWER
LYQQTLRTSGKIYMIFFVLVIFLGSFYLVNLILAVVTMAYEEQNQATTDEIEAKEKKFQE
ALEMLRKEQEVLAALGIDTTSLHSHNGSPLTSKNASERRHRIKPRVSEGSTEDNKSPRSD
PYNQRRMSFLGLASGKRRASHGSVFHFRSPGRDISLPEGVTDDGVFPGDHESHRGSLLLG
GGAGQQGPLPRSPLPQPSNPDSRHGEDEHQPPPTSELAPGAVDVSAFDAGQKKTFLSAEY
LDEPFRAQRAMSVVSIITSVLEELEESEQKCPPCLTSLSQKYLIWDCCPMWVKLKTILFG
LVTDPFAELTITLCIVVNTIFMAMEHHGMSPTFEAMLQIGNIVFTIFFTAEMVFKIIAFD
PYYYFQKKWNIFDCIIVTVSLLELGVAKKGSLSVLRSFRLLRVFKLAKSWPTLNTLIKII
GNSVGALGNLTIILAIIVFVFALVGKQLLGENYRNNRKNISAPHEDWPRWHMHDFFHSFL
IVFRILCGEWIENMWACMEVGQKSICLILFLTVMVLGNLVVLNLFIALLLNSFSADNLTA
PEDDGEVNNLQVALARIQVFGHRTKQALCSFFSRSCPFPQPKAEPELVVKLPLSSSKAEN
HIAANTARGSSGGLQAPRGPRDEHSDFIANPTVWVSVPIAEGESDLDDLEDDGGEDAQSF
QQEVIPKGQQEQLQQVERCGDHLTPRSPGTGTSSEDLAPSLGETWKDESVPQVPAEGVDD
TSSSEGSTVDCLDPEEILRKIPELADDLEEPDDCFTEGCIRHCPCCKLDTTKSPWDVGWQ
VRKTCYRIVEHSWFESFIIFMILLSSGSLAFEDYYLDQKPTVKALLEYTDRVFTFIFVFE
MLLKWVAYGFKKYFTNAWCWLDFLIVNISLISLTAKILEYSEVAPIKALRTLRALRPLRA
LSRFEGMRVVVDALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFWRCINYTDGEFSL
VPLSIVNNKSDCKIQNSTGSFFWVNVKVNFDNVAMGYLALLQVATFKGWMDIMYAAVDSR
EVNMQPKWEDNVYMYLYFVIFIIFGGFFTLNLFVGVIIDNFNQQKKKLGGQDIFMTEEQK
KYYNAMKKLGSKKPQKPIPRPLNKFQGFVFDIVTRQAFDITIMVLICLNMITMMVETDDQ
SEEKTKILGKINQFFVAVFTGECVMKMFALRQYYFTNGWNVFDFIVVVLSIASLIFSAIL
KSLQSYFSPTLFRVIRLARIGRILRLIRAAKGIRTLLFALMMSLPALFNIGLLLFLVMFI
YSIFGMSSFPHVRWEAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGPPYCDP
NLPNSNGTRGDCGSPAVGIIFFTTYIIISFLIMVNMYIAVILENFNVATEESTEPLSEDD
FDMFYETWEKFDPEATQFITFSALSDFADTLSGPLRIPKPNRNILIQMDLPLVPGDKIHC
LDILFAFTKNVLGESGELDSLKANMEEKFMATNLSKSSYEPIATTLRWKQEDISATVIQK
AYRSYVLHRSMALSNTPCVPRAEEEAASLPDEGFVAFTANENCVLPDKSETASATSFPPS
YESVTRGLSDRVNMRTSSSIQNEDEATSMELIAPGP
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| Position | Chain | Variation | Link |
| complement(45) | - | g, a | dbSNP:34314583 |
| complement(618) | - | t, c | dbSNP:74717885 |
| complement(1157) | - | c, a | dbSNP:78555408 |
| complement(1284) | - | t, c | dbSNP:62244070 |
| complement(1458..1459) | - | , c | dbSNP:35523546 |
| complement(1476) | - | g, a | dbSNP:7617919 |
| complement(1522) | - | g, a | dbSNP:112774699 |
| complement(1525) | - | g, a | dbSNP:7630989 |
| complement(1768) | - | t, c | dbSNP:35332705 |
| complement(2366) | - | t, c | dbSNP:111788645 |
| complement(2431) | - | t, c | dbSNP:77049337 |
| complement(2834) | - | g, a | dbSNP:11707331 |
| complement(2850) | - | t, c | dbSNP:7374804 |
| complement(2884) | - | t, c | dbSNP:57326399 |
| complement(2937) | - | g, a | dbSNP:59468016 |
| complement(3133) | - | t, g | dbSNP:73062575 |
| complement(3192) | - | t, c | dbSNP:6791171 |
| complement(3218) | - | g, a | dbSNP:6795970 |
| complement(3275) | - | g, a | dbSNP:12632942 |
| complement(3393) | - | g, c | dbSNP:6771157 |
| complement(3421) | - | t, c | dbSNP:112412281 |
| complement(4009) | - | t, a | dbSNP:11711062 |
| complement(4323) | - | t, c | dbSNP:6790627 |
| complement(4710) | - | t, c | dbSNP:78425180 |
| complement(4866) | - | g, a | dbSNP:6599242 |
| complement(4887..4888) | - | , g | dbSNP:71635874 |
| complement(5022) | - | t, c | dbSNP:112795612 |
| complement(5089) | - | t, c | dbSNP:77804526 |
| complement(5137) | - | t, c | dbSNP:6599241 |
| complement(5199) | - | g, a | dbSNP:113721356 |
| complement(5217) | - | g, a | dbSNP:116353929 |
| complement(5445) | - | g, a | dbSNP:111535651 |
| complement(5496) | - | g, a | dbSNP:112374164 |
| complement(5603) | - | t, g | dbSNP:115463830 |
| Gene Symbol | SCN10A |
| Gene Synonym | hPN3; Nav1.8; PN3; SNS |
| Chromosome | 3 |
| Locus Map | 3p22.2 |
| All Transcripts | NM_006514 |
| Title | Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction . |
| Author | Sotoodehnia,N., Isaacs,A., de Bakker,P.I., Dorr,M., Newton-Cheh,C., Nolte,I.M., van der Harst,P., Muller,M., Eijgelsheim,M., Alonso,A., Hicks,A.A., Padmanabhan,S., Hayward,C., Smith,A.V., Polasek,O., Giovannone,S., Fu,J., Magnani,J.W., Marciante,K.D., Pfeufer,A., Gharib,S.A., Teumer,A., Li,M., Bis,J.C., Rivadeneira,F., Aspelund,T., Kottgen,A., Johnson,T., Rice,K., Sie,M.P., Wang,Y.A., Klopp,N., Fuchsberger,C., Wild,S.H., Mateo Leach,I., Estrada,K., Volker,U., Wright,A.F., Asselbergs,F.W., Qu,J., Chakravarti,A., Sinner,M.F., Kors,J.A., Petersmann,A., Harris,T.B., Soliman,E.Z., Munroe,P.B., Psaty,B.M., Oostra,B.A., Cupples,L.A., Perz,S., de Boer,R.A., Uitterlinden,A.G., Volzke,H., Spector,T.D., Liu,F.Y., Boerwinkle,E., Dominiczak,A.F., Rotter,J.I., van Herpen,G., Levy,D., Wichmann,H.E., van Gilst,W.H., Witteman,J.C., Kroemer,H.K., Kao,W.H., Heckbert,S.R., Meitinger,T., Hofman,A., Campbell,H., Folsom,A.R., van Veldhuisen,D.J., Schwienbacher,C., O'Donnell,C.J., Volpato,C.B., Caulfield,M.J., Connell,J.M., Launer,L., Lu,X., Franke,L., Fehrmann,R.S., te Meerman,G., Groen,H.J., Weersma,R.K., van den Berg,L.H., Wijmenga,C., Ophoff,R.A., Navis,G., Rudan,I., Snieder,H., Wilson,J.F., Pramstaller,P.P., Siscovick,D.S., Wang,T.J., Gudnason,V., van Duijn,C.M., Felix,S.B., Fishman,G.I., Jamshidi,Y., Stricker,B.H., Samani,N.J., Kaab,S. and Arking,D.E. |
| Journal | Nat. Genet. 42 (12), 1068-1076 (2010) |
| Title | Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science . |
| Author | Denny,J.C., Ritchie,M.D., Crawford,D.C., Schildcrout,J.S., Ramirez,A.H., Pulley,J.M., Basford,M.A., Masys,D.R., Haines,J.L. and Roden,D.M. |
| Journal | Circulation 122 (20), 2016-2021 (2010) |
| Title | Transmembrane segments prevent surface expression of sodium channel Nav1.8 and promote calnexin-dependent channel degradation . |
| Author | Li,Q., Su,Y.Y., Wang,H., Li,L., Wang,Q. and Bao,L. |
| Journal | J. Biol. Chem. 285 (43), 32977-32987 (2010) |
| Title | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score . |
| Author | Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R. |
| Journal | Mol. Med. 16 (7-8), 247-253 (2010) |
| Title | RET signaling is required for survival and normal function of nonpeptidergic nociceptors . |
| Author | Golden,J.P., Hoshi,M., Nassar,M.A., Enomoto,H., Wood,J.N., Milbrandt,J., Gereau,R.W. IV, Johnson,E.M. Jr. and Jain,S. |
| Journal | J. Neurosci. 30 (11), 3983-3994 (2010) |
| Title | A high-capacity membrane potential FRET-based assay for NaV1.8 channels . |
| Author | Liu,C.J., Priest,B.T., Bugianesi,R.M., Dulski,P.M., Felix,J.P., Dick,I.E., Brochu,R.M., Knaus,H.G., Middleton,R.E., Kaczorowski,G.J., Slaughter,R.S., Garcia,M.L. and Kohler,M.G. |
| Journal | Assay Drug Dev Technol 4 (1), 37-48 (2006) |
| Title | International Union of Pharmacology. XLVII. Nomenclature and structure-function relationships of voltage-gated sodium channels . |
| Author | Catterall,W.A., Goldin,A.L. and Waxman,S.G. |
| Journal | Pharmacol. Rev. 57 (4), 397-409 (2005) |
| Title | Sensory neuron proteins interact with the intracellular domains of sodium channel NaV1.8 . |
| Author | Malik-Hall,M., Poon,W.Y., Baker,M.D., Wood,J.N. and Okuse,K. |
| Journal | Brain Res. Mol. Brain Res. 110 (2), 298-304 (2003) |
| Title | Evolution and diversity of mammalian sodium channel genes . |
| Author | Plummer,N.W. and Meisler,M.H. |
| Journal | Genomics 57 (2), 323-331 (1999) |
| Title | A tetrodotoxin-resistant voltage-gated sodium channel from human dorsal root ganglia, hPN3/SCN10A . |
| Author | Rabert,D.K., Koch,B.D., Ilnicka,M., Obernolte,R.A., Naylor,S.L., Herman,R.C., Eglen,R.M., Hunter,J.C. and Sangameswaran,L. |
| Journal | Pain 78 (2), 107-114 (1998) |
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