| |
|---|---|
| Accession Number: | P35498 |
| Protein Name: | Nav1.1 |
| Length: | 2009 |
| Molecular Weight: | 228972.00 |
| Species: | Homo sapiens (Human) [9606] |
| Number of TMSs: | 25 |
| Location1 / Topology2 / Orientation3: | Membrane1 / Multi-pass membrane protein2 |
| Substrate | sodium(1+) |
Cross database links:
| RefSeq: | NP_001159435.1 NP_008851.3 |
|---|---|
| Entrez Gene ID: | 6323 |
| Pfam: | PF00520 PF06512 |
| OMIM: |
182389 gene 604233 phenotype 604403 phenotype 607208 phenotype 609634 phenotype |
| KEGG: | hsa:6323 |
Gene Ontology
GO:0001518
C:voltage-gated sodium channel complex
GO:0005248
F:voltage-gated sodium channel activity
GO:0006814
P:sodium ion transport
GO:0055085
P:transmembrane transport
| |
References (29)[1] “Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2.” Escayg A.et.al. 10742094 [2] “Generation and annotation of the DNA sequences of human chromosomes 2 and 4.” Hillier L.W.et.al. 15815621 [3] “Localization of a putative human brain sodium channel gene (SCN1A) to chromosome band 2q24.” Malo M.S.et.al. 8062593 [4] “Differential expression of two sodium channel subtypes in human brain.” Lu C.-M.et.al. 1317301 [5] “Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.” Wallace R.H.et.al. 11254444 [6] “A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus -- and prevalence of variants in patients with epilepsy.” Escayg A.et.al. 11254445 [7] “De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.” Claes L.et.al. 11359211 [8] “Na(v)1.1 mutations cause febrile seizures associated with afebrile partial seizures.” Sugawara T.et.al. 11524484 [9] “Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation.” Abou-Khalil B.et.al. 11756608 [10] “Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy.” Ohmori I.et.al. 12083760 [11] “Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures.” Fujiwara T.et.al. 12566275 [12] “Two novel SCN1A missense mutations in generalized epilepsy with febrile seizures plus.” Annesi G.et.al. 12919402 [13] “De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy.” Claes L.et.al. 12754708 [14] “Epilepsy-associated dysfunction in the voltage-gated neuronal sodium channel SCN1A.” Lossin C.et.al. 14672992 [15] “Sodium channels SCN1A, SCN2A and SCN3A in familial autism.” Weiss L.A.et.al. 12610651 [16] “Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy.” Nabbout R.et.al. 12821740 [17] “Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.” Wallace R.H.et.al. 14504318 [18] “Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB).” Fukuma G.et.al. 14738421 [19] “A novel epilepsy mutation in the sodium channel SCN1A identifies a cytoplasmic domain for beta subunit interaction.” Spampanato J.et.al. 15525788 [20] “Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy.” Ceulemans B.P.G.M.et.al. 15087100 [21] “A family of generalized epilepsy with febrile seizures plus type 2-a new missense mutation of SCN1A found in the pedigree of several patients with complex febrile seizures.” Nagao Y.et.al. 15715999 [22] “Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine.” Dichgans M.et.al. 16054936 [23] “SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures.” Ebach K.et.al. 15944908 [24] “Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures.” Mantegazza M.et.al. 16326807 [25] “A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree.” Pineda-Trujillo N.et.al. 15694566 | |
External Searches:
|
Analyze:
| Predict TMSs (Predict number of transmembrane segments) | ||||
| FASTA formatted sequence |
|
|||
1: MEQTVLVPPG PDSFNFFTRE SLAAIERRIA EEKAKNPKPD KKDDDENGPK PNSDLEAGKN 61: LPFIYGDIPP EMVSEPLEDL DPYYINKKTF IVLNKGKAIF RFSATSALYI LTPFNPLRKI 121: AIKILVHSLF SMLIMCTILT NCVFMTMSNP PDWTKNVEYT FTGIYTFESL IKIIARGFCL 181: EDFTFLRDPW NWLDFTVITF AYVTEFVDLG NVSALRTFRV LRALKTISVI PGLKTIVGAL 241: IQSVKKLSDV MILTVFCLSV FALIGLQLFM GNLRNKCIQW PPTNASLEEH SIEKNITVNY 301: NGTLINETVF EFDWKSYIQD SRYHYFLEGF LDALLCGNSS DAGQCPEGYM CVKAGRNPNY 361: GYTSFDTFSW AFLSLFRLMT QDFWENLYQL TLRAAGKTYM IFFVLVIFLG SFYLINLILA 421: VVAMAYEEQN QATLEEAEQK EAEFQQMIEQ LKKQQEAAQQ AATATASEHS REPSAAGRLS 481: DSSSEASKLS SKSAKERRNR RKKRKQKEQS GGEEKDEDEF QKSESEDSIR RKGFRFSIEG 541: NRLTYEKRYS SPHQSLLSIR GSLFSPRRNS RTSLFSFRGR AKDVGSENDF ADDEHSTFED 601: NESRRDSLFV PRRHGERRNS NLSQTSRSSR MLAVFPANGK MHSTVDCNGV VSLVGGPSVP 661: TSPVGQLLPE VIIDKPATDD NGTTTETEMR KRRSSSFHVS MDFLEDPSQR QRAMSIASIL 721: TNTVEELEES RQKCPPCWYK FSNIFLIWDC SPYWLKVKHV VNLVVMDPFV DLAITICIVL 781: NTLFMAMEHY PMTDHFNNVL TVGNLVFTGI FTAEMFLKII AMDPYYYFQE GWNIFDGFIV 841: TLSLVELGLA NVEGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL GNLTLVLAII 901: VFIFAVVGMQ LFGKSYKDCV CKIASDCQLP RWHMNDFFHS FLIVFRVLCG EWIETMWDCM 961: EVAGQAMCLT VFMMVMVIGN LVVLNLFLAL LLSSFSADNL AATDDDNEMN NLQIAVDRMH 1021: KGVAYVKRKI YEFIQQSFIR KQKILDEIKP LDDLNNKKDS CMSNHTAEIG KDLDYLKDVN 1081: GTTSGIGTGS SVEKYIIDES DYMSFINNPS LTVTVPIAVG ESDFENLNTE DFSSESDLEE 1141: SKEKLNESSS SSEGSTVDIG APVEEQPVVE PEETLEPEAC FTEGCVQRFK CCQINVEEGR 1201: GKQWWNLRRT CFRIVEHNWF ETFIVFMILL SSGALAFEDI YIDQRKTIKT MLEYADKVFT 1261: YIFILEMLLK WVAYGYQTYF TNAWCWLDFL IVDVSLVSLT ANALGYSELG AIKSLRTLRA 1321: LRPLRALSRF EGMRVVVNAL LGAIPSIMNV LLVCLIFWLI FSIMGVNLFA GKFYHCINTT 1381: TGDRFDIEDV NNHTDCLKLI ERNETARWKN VKVNFDNVGF GYLSLLQVAT FKGWMDIMYA 1441: AVDSRNVELQ PKYEESLYMY LYFVIFIIFG SFFTLNLFIG VIIDNFNQQK KKFGGQDIFM 1501: TEEQKKYYNA MKKLGSKKPQ KPIPRPGNKF QGMVFDFVTR QVFDISIMIL ICLNMVTMMV 1561: ETDDQSEYVT TILSRINLVF IVLFTGECVL KLISLRHYYF TIGWNIFDFV VVILSIVGMF 1621: LAELIEKYFV SPTLFRVIRL ARIGRILRLI KGAKGIRTLL FALMMSLPAL FNIGLLLFLV 1681: MFIYAIFGMS NFAYVKREVG IDDMFNFETF GNSMICLFQI TTSAGWDGLL APILNSKPPD 1741: CDPNKVNPGS SVKGDCGNPS VGIFFFVSYI IISFLVVVNM YIAVILENFS VATEESAEPL 1801: SEDDFEMFYE VWEKFDPDAT QFMEFEKLSQ FAAALEPPLN LPQPNKLQLI AMDLPMVSGD 1861: RIHCLDILFA FTKRVLGESG EMDALRIQME ERFMASNPSK VSYQPITTTL KRKQEEVSAV 1921: IIQRAYRRHL LKRTVKQASF TYNKNKIKGG ANLLIKEDMI IDRINENSIT EKTDLTMSTA 1981: ACPPSYDRVT KPIVEKHEQE GKDEKAKGK