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1.A.1.10.7
Voltage-sensitive Na+ channel, Nav1.1 or SCN1A (causes epilepsy when mutated) (Rusconi et al., 2007).  Mutations are associated with a wide range of mild to severe epileptic syndromes with phenotypes ranging from the relatively mild generalized epilepsy with febrile seizures to other severe epileptic encephalopathies (Colosimo et al. 2007), including myoclonic epilepsy in infancy (SMEI), cryptogenic focal epilepsy (CFE), cryptogenic generalized epilepsy (CGE) and a distinctive subgroup termed as severe infantile multifocal epilepsy (SIMFE) (Ben Mahmoud et al. 2015).

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 Na+

Cross database links:

Genevestigator: P35498
eggNOG: prNOG05196
HEGENOM: HBG358468
RefSeq: NP_001159435.1    NP_008851.3   
Entrez Gene ID: 6323   
Pfam: PF00520    PF06512   
Drugbank: Drugbank Link   
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
[26] “The spectrum of SCN1A-related infantile epileptic encephalopathies.”  Harkin L.A.et.al.   17347258
[27] “Patients with a sodium channel alpha 1 gene mutation show wide phenotypic variation.”  Osaka H.et.al.   17507202
[28] “Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.”  Zucca C.et.al.   18413471
[29] “Elicited repetitive daily blindness: a new phenotype associated with hemiplegic migraine and SCN1A mutations.”  Vahedi K.et.al.   19332696

External Searches:

  • Search: DB with
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  • CDD Search (Conserved Domain Database)
  • Search COGs (Clusters of Orthologous Groups of proteins)
  • 2° Structure (Network Protein Sequence Analysis)

Analyze:

Predict TMSs (Predict number of transmembrane segments)
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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