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|---|---|
| Accession Number: | P35499 |
| Protein Name: | Voltage-gated sodium channel subunit alpha Nav1.4 |
| Length: | 1836 |
| Molecular Weight: | 208061.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 18 |
| Location1 / Topology2 / Orientation3: | Membrane1 / Multi-pass membrane protein2 |
| Substrate | sodium(1+) |
Cross database links:
| RefSeq: | NP_000325.4 |
|---|---|
| Entrez Gene ID: | 6329 |
| Pfam: | PF00520 PF06512 |
| OMIM: |
168300 phenotype 170400 phenotype 170500 phenotype 603967 gene+phenotype 608390 phenotype |
| KEGG: | hsa:6329 |
Gene Ontology
GO:0001518
C:voltage-gated sodium channel complex
GO:0005248
F:voltage-gated sodium channel activity
GO:0006936
P:muscle contraction
GO:0006814
P:sodium ion transport
GO:0055085
P:transmembrane transport
| |
References (40)[1] “Primary structure of the adult human skeletal muscle voltage-dependent sodium channel.” George A.L. Jr.et.al. 1315496 [2] “Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q.” Wang J.et.al. 1310396 [3] “Myasthenic syndrome caused by mutation of the SCN4A sodium channel.” Tsujino A.et.al. 12766226 [4] “The genomic structure of the human skeletal muscle sodium channel gene.” McClatchey A.I.et.al. 1339144 [5] “DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.” Zody M.C.et.al. 16625196 [6] “Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita.” McClatchey A.I.et.al. 1310898 [7] “Identification of a mutation in the gene causing hyperkalemic periodic paralysis.” Ptacek L.J.et.al. 1659948 [8] “A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis.” Rojas C.V.et.al. 1659668 [9] “Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.” McClatchey A.I.et.al. 1338909 [10] “Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita.” Ptacek L.J.et.al. 1316765 [11] “Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis.” Ptacek L.J.et.al. 8388676 [12] “Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.” Lerche H.et.al. 8308722 [13] “A novel SCN4A mutation causing myotonia aggravated by cold and potassium.” Heine R.et.al. 8242056 [14] “Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis.” Ptacek L.J.et.al. 8058156 [15] “Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel sodium channel mutation?” Baquero J.L.et.al. 7695243 [16] “Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile).” Koch M.C.et.al. 8580427 [17] “A novel muscle sodium channel mutation causes painful congenital myotonia.” Rosenfeld J.et.al. 9392583 [18] “A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.” Sasaki R.et.al. 10369308 [19] “Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia.” Wang D.W.et.al. 10218481 [20] “A novel sodium channel mutation in a family with hypokalemic periodic paralysis.” Bulman D.E.et.al. 10599760 [21] “Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.” Davies N.P.et.al. 10727489 [22] “Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.” Sugiura Y.et.al. 10851391 [23] “Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.” Jurkat-Rott K.et.al. 10944223 [24] “Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.” Bendahhou S.et.al. 11558801 [25] “Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.” Davies N.P.et.al. 11591859 [26] “New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis.” Vicart S.et.al. 15596759 [27] “A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation.” Bouhours M.et.al. 15790667 [28] “Cold extends electromyography distinction between ion channel mutations causing myotonia.” Fournier E.et.al. 16786525 [29] “Autosomal dominant monosymptomatic myotonia permanens.” Colding-Joergensen E.et.al. 16832098 [30] “The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis.” Kim J.-B.et.al. 18162704 [31] “A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.” Schoser B.G.H.et.al. 17212350 [32] “A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.” Rossignol E.et.al. 17998485 [33] “Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.” Gay S.et.al. 18203179 [34] “Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis.” Xiuhai G.et.al. 18046642 [35] “Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating.” Groome J.R.et.al. 18690054 [36] “What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed.” Matthews E.et.al. 18166706 | |
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| FASTA formatted sequence |
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1: MARPSLCTLV PLGPECLRPF TRESLAAIEQ RAVEEEARLQ RNKQMEIEEP ERKPRSDLEA 61: GKNLPMIYGD PPPEVIGIPL EDLDPYYSNK KTFIVLNKGK AIFRFSATPA LYLLSPFSVV 121: RRGAIKVLIH ALFSMFIMIT ILTNCVFMTM SDPPPWSKNV EYTFTGIYTF ESLIKILARG 181: FCVDDFTFLR DPWNWLDFSV IMMAYLTEFV DLGNISALRT FRVLRALKTI TVIPGLKTIV 241: GALIQSVKKL SDVMILTVFC LSVFALVGLQ LFMGNLRQKC VRWPPPFNDT NTTWYSNDTW 301: YGNDTWYGNE MWYGNDSWYA NDTWNSHASW ATNDTFDWDA YISDEGNFYF LEGSNDALLC 361: GNSSDAGHCP EGYECIKTGR NPNYGYTSYD TFSWAFLALF RLMTQDYWEN LFQLTLRAAG 421: KTYMIFFVVI IFLGSFYLIN LILAVVAMAY AEQNEATLAE DKEKEEEFQQ MLEKFKKHQE 481: ELEKAKAAQA LEGGEADGDP AHGKDCNGSL DTSQGEKGAP RQSSSGDSGI SDAMEELEEA 541: HQKCPPWWYK CAHKVLIWNC CAPWLKFKNI IHLIVMDPFV DLGITICIVL NTLFMAMEHY 601: PMTEHFDNVL TVGNLVFTGI FTAEMVLKLI AMDPYEYFQQ GWNIFDSIIV TLSLVELGLA 661: NVQGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL GNLTLVLAII VFIFAVVGMQ 721: LFGKSYKECV CKIALDCNLP RWHMHDFFHS FLIVFRILCG EWIETMWDCM EVAGQAMCLT 781: VFLMVMVIGN LVVLNLFLAL LLSSFSADSL AASDEDGEMN NLQIAIGRIK LGIGFAKAFL 841: LGLLHGKILS PKDIMLSLGE ADGAGEAGEA GETAPEDEKK EPPEEDLKKD NHILNHMGLA 901: DGPPSSLELD HLNFINNPYL TIQVPIASEE SDLEMPTEEE TDTFSEPEDS KKPPQPLYDG 961: NSSVCSTADY KPPEEDPEEQ AEENPEGEQP EECFTEACVQ RWPCLYVDIS QGRGKKWWTL 1021: RRACFKIVEH NWFETFIVFM ILLSSGALAF EDIYIEQRRV IRTILEYADK VFTYIFIMEM 1081: LLKWVAYGFK VYFTNAWCWL DFLIVDVSII SLVANWLGYS ELGPIKSLRT LRALRPLRAL 1141: SRFEGMRVVV NALLGAIPSI MNVLLVCLIF WLIFSIMGVN LFAGKFYYCI NTTTSERFDI 1201: SEVNNKSECE SLMHTGQVRW LNVKVNYDNV GLGYLSLLQV ATFKGWMDIM YAAVDSREKE 1261: EQPQYEVNLY MYLYFVIFII FGSFFTLNLF IGVIIDNFNQ QKKKLGGKDI FMTEEQKKYY 1321: NAMKKLGSKK PQKPIPRPQN KIQGMVYDLV TKQAFDITIM ILICLNMVTM MVETDNQSQL 1381: KVDILYNINM IFIIIFTGEC VLKMLALRQY YFTVGWNIFD FVVVILSIVG LALSDLIQKY 1441: FVSPTLFRVI RLARIGRVLR LIRGAKGIRT LLFALMMSLP ALFNIGLLLF LVMFIYSIFG 1501: MSNFAYVKKE SGIDDMFNFE TFGNSIICLF EITTSAGWDG LLNPILNSGP PDCDPNLENP 1561: GTSVKGDCGN PSIGICFFCS YIIISFLIVV NMYIAIILEN FNVATEESSE PLGEDDFEMF 1621: YETWEKFDPD ATQFIAYSRL SDFVDTLQEP LRIAKPNKIK LITLDLPMVP GDKIHCLDIL 1681: FALTKEVLGD SGEMDALKQT MEEKFMAANP SKVSYEPITT TLKRKHEEVC AIKIQRAYRR 1741: HLLQRSMKQA SYMYRHSHDG SGDDAPEKEG LLANTMSKMY GHENGNSSSP SPEEKGEAGD 1801: AGPTMGLMPI SPSDTAWPPA PPPGQTVRPG VKESLV