KEGG   Homo sapiens (human): 6323Help
Entry
6323              CDS       T01001                                 

Gene name
SCN1A, EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI
Definition
(RefSeq) sodium voltage-gated channel alpha subunit 1
  KO
K04833  voltage-gated sodium channel type I alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04728  Dopaminergic synapse
Disease
H00775  Familial or sporadic hemiplegic migraine
H00783  Febrile seizures
H01815  Malignant migrating partial seizures in infancy
H01818  Dravet syndrome
Drug target
Ajmaline: D00199
Aminobenzoic acid (DG00379): D02456 D02906 D02907
Amiodarone (DG00204): D00636 D02910
Aprindine (DG00199): D01326 D02969
Articaine (DG00805): D02991 D07468
Benzocaine: D00552
Bupivacaine (DG00801): D01450 D07552
Carbamazepine: D00252
Chloroprocaine (DG00800): D00732 D07678
Cibenzoline (DG00209): D01455 D03492
Cinchocaine (DG00297): D00733 D02220
Cocaine (DG00808): D00110 D02182
Disopyramide (DG00194): D00303 D00637
Encainide (DG00203): D03991 D07894
Eslicarbazepine (DG00848): D09215 D09612
Ethyl piperidinoacetylaminobenzoate: D01519
Etidocaine (DG00804): D00737 D04095
Flecainide (DG00201): D00638 D07962
Fosphenytoin (DG00847): D02096 D07595 D07993
Lamotrigine: D00354
Levobupivacaine (DG00807): D01287 D08116
Lidocaine (DG00196): D00358 D02086 D08127
Lorajmine: D04774
Mephenytoin: D00375
Mepivacaine (DG00802): D00738 D08181
Mexiletine (DG00197): D00639 D08215
Oxcarbazepine: D00533
Oxetacaine (DG00299): D01152 D08311
Oxybuprocaine (DG00392): D01768 D08319
Phenytoin (DG00846): D00512 D02103
Pilsicainide (DG01257): D01554 D08377
Pirmenol (DG01381): D01785 D06517 D08394
Pramocaine (DG00300): D00739 D08407
Prilocaine (DG00803): D00553 D01243
Procainamide (DG00193): D00477 D08421
Procaine (DG00298): D00740 D08422
Propafenone (DG00200): D00640 D08435
Proxymetacaine (DG01145): D02098 D08448
Quinidine (DG00192): D00642 D00643 D02272 D08458 D08459
Ropivacaine (DG00806): D04048 D08490
Rufinamide: D05775
Sparteine (DG00195): D01041 D02239
Tetracaine (DG00296): D00551 D00741
Tocainide (DG00198): D02088 D06172
Topiramate: D00537
Zonisamide: D00538
p-Butylaminobenzoyldiethylaminoethyl hydrochloride: D01967
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Organismal Systems
  Nervous system
   04728 Dopaminergic synapse
    6323 (SCN1A)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Na+ channel, SCN alpha, NaV1.x
   6323 (SCN1A)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ion_trans Na_trans_cytopl Na_trans_assoc PKD_channel GPHH Zip IQ ATP-synt_B SieB
Motif
Other DBs
NCBI-GeneID: 6323
NCBI-ProteinID: NP_001159435
OMIM: 182389
HGNC: 10585
Ensembl: ENSG00000144285
Vega: OTTHUMG00000044173
Pharos: P35498(Tclin)
UniProt: P35498
Position
2q24.3
AA seq 2009 aa AA seqDB search
MEQTVLVPPGPDSFNFFTRESLAAIERRIAEEKAKNPKPDKKDDDENGPKPNSDLEAGKN
LPFIYGDIPPEMVSEPLEDLDPYYINKKTFIVLNKGKAIFRFSATSALYILTPFNPLRKI
AIKILVHSLFSMLIMCTILTNCVFMTMSNPPDWTKNVEYTFTGIYTFESLIKIIARGFCL
EDFTFLRDPWNWLDFTVITFAYVTEFVDLGNVSALRTFRVLRALKTISVIPGLKTIVGAL
IQSVKKLSDVMILTVFCLSVFALIGLQLFMGNLRNKCIQWPPTNASLEEHSIEKNITVNY
NGTLINETVFEFDWKSYIQDSRYHYFLEGFLDALLCGNSSDAGQCPEGYMCVKAGRNPNY
GYTSFDTFSWAFLSLFRLMTQDFWENLYQLTLRAAGKTYMIFFVLVIFLGSFYLINLILA
VVAMAYEEQNQATLEEAEQKEAEFQQMIEQLKKQQEAAQQAATATASEHSREPSAAGRLS
DSSSEASKLSSKSAKERRNRRKKRKQKEQSGGEEKDEDEFQKSESEDSIRRKGFRFSIEG
NRLTYEKRYSSPHQSLLSIRGSLFSPRRNSRTSLFSFRGRAKDVGSENDFADDEHSTFED
NESRRDSLFVPRRHGERRNSNLSQTSRSSRMLAVFPANGKMHSTVDCNGVVSLVGGPSVP
TSPVGQLLPEVIIDKPATDDNGTTTETEMRKRRSSSFHVSMDFLEDPSQRQRAMSIASIL
TNTVEELEESRQKCPPCWYKFSNIFLIWDCSPYWLKVKHVVNLVVMDPFVDLAITICIVL
NTLFMAMEHYPMTDHFNNVLTVGNLVFTGIFTAEMFLKIIAMDPYYYFQEGWNIFDGFIV
TLSLVELGLANVEGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAII
VFIFAVVGMQLFGKSYKDCVCKIASDCQLPRWHMNDFFHSFLIVFRVLCGEWIETMWDCM
EVAGQAMCLTVFMMVMVIGNLVVLNLFLALLLSSFSADNLAATDDDNEMNNLQIAVDRMH
KGVAYVKRKIYEFIQQSFIRKQKILDEIKPLDDLNNKKDSCMSNHTAEIGKDLDYLKDVN
GTTSGIGTGSSVEKYIIDESDYMSFINNPSLTVTVPIAVGESDFENLNTEDFSSESDLEE
SKEKLNESSSSSEGSTVDIGAPVEEQPVVEPEETLEPEACFTEGCVQRFKCCQINVEEGR
GKQWWNLRRTCFRIVEHNWFETFIVFMILLSSGALAFEDIYIDQRKTIKTMLEYADKVFT
YIFILEMLLKWVAYGYQTYFTNAWCWLDFLIVDVSLVSLTANALGYSELGAIKSLRTLRA
LRPLRALSRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYHCINTT
TGDRFDIEDVNNHTDCLKLIERNETARWKNVKVNFDNVGFGYLSLLQVATFKGWMDIMYA
AVDSRNVELQPKYEESLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKFGGQDIFM
TEEQKKYYNAMKKLGSKKPQKPIPRPGNKFQGMVFDFVTRQVFDISIMILICLNMVTMMV
ETDDQSEYVTTILSRINLVFIVLFTGECVLKLISLRHYYFTIGWNIFDFVVVILSIVGMF
LAELIEKYFVSPTLFRVIRLARIGRILRLIKGAKGIRTLLFALMMSLPALFNIGLLLFLV
MFIYAIFGMSNFAYVKREVGIDDMFNFETFGNSMICLFQITTSAGWDGLLAPILNSKPPD
CDPNKVNPGSSVKGDCGNPSVGIFFFVSYIIISFLVVVNMYIAVILENFSVATEESAEPL
SEDDFEMFYEVWEKFDPDATQFMEFEKLSQFAAALEPPLNLPQPNKLQLIAMDLPMVSGD
RIHCLDILFAFTKRVLGESGEMDALRIQMEERFMASNPSKVSYQPITTTLKRKQEEVSAV
IIQRAYRRHLLKRTVKQASFTYNKNKIKGGANLLIKEDMIIDRINENSITEKTDLTMSTA
ACPPSYDRVTKPIVEKHEQEGKDEKAKGK
NT seq 6030 nt NT seq  +upstreamnt  +downstreamnt
atggagcaaacagtgcttgtaccaccaggacctgacagcttcaacttcttcaccagagaa
tctcttgcggctattgaaagacgcattgcagaagaaaaggcaaagaatcccaaaccagac
aaaaaagatgacgacgaaaatggcccaaagccaaatagtgacttggaagctggaaagaac
cttccatttatttatggagacattcctccagagatggtgtcagagcccctggaggacctg
gacccctactatatcaataagaaaacttttatagtattgaataaagggaaggccatcttc
cggttcagtgccacctctgccctgtacattttaactcccttcaatcctcttaggaaaata
gctattaagattttggtacattcattattcagcatgctaattatgtgcactattttgaca
aactgtgtgtttatgacaatgagtaaccctcctgattggacaaagaatgtagaatacacc
ttcacaggaatatatacttttgaatcacttataaaaattattgcaaggggattctgttta
gaagattttactttccttcgggatccatggaactggctcgatttcactgtcattacattt
gcgtacgtcacagagtttgtggacctgggcaatgtctcggcattgagaacattcagagtt
ctccgagcattgaagacgatttcagtcattccaggcctgaaaaccattgtgggagccctg
atccagtctgtgaagaagctctcagatgtaatgatcctgactgtgttctgtctgagcgta
tttgctctaattgggctgcagctgttcatgggcaacctgaggaataaatgtatacaatgg
cctcccaccaatgcttccttggaggaacatagtatagaaaagaatataactgtgaattat
aatggtacacttataaatgaaactgtctttgagtttgactggaagtcatatattcaagat
tcaagatatcattatttcctggagggttttttagatgcactactatgtggaaatagctct
gatgcaggccaatgtccagagggatatatgtgtgtgaaagctggtagaaatcccaattat
ggctacacaagctttgataccttcagttgggcttttttgtccttgtttcgactaatgact
caggacttctgggaaaatctttatcaactgacattacgtgctgctgggaaaacgtacatg
atattttttgtattggtcattttcttgggctcattctacctaataaatttgatcctggct
gtggtggccatggcctacgaggaacagaatcaggccaccttggaagaagcagaacagaaa
gaggccgaatttcagcagatgattgaacagcttaaaaagcaacaggaggcagctcagcag
gcagcaacggcaactgcctcagaacattccagagagcccagtgcagcaggcaggctctca
gacagctcatctgaagcctctaagttgagttccaagagtgctaaggaaagaagaaatcgg
aggaagaaaagaaaacagaaagagcagtctggtggggaagagaaagatgaggatgaattc
caaaaatctgaatctgaggacagcatcaggaggaaaggttttcgcttctccattgaaggg
aaccgattgacatatgaaaagaggtactcctccccacaccagtctttgttgagcatccgt
ggctccctattttcaccaaggcgaaatagcagaacaagccttttcagctttagagggcga
gcaaaggatgtgggatctgagaacgacttcgcagatgatgagcacagcacctttgaggat
aacgagagccgtagagattccttgtttgtgccccgacgacacggagagagacgcaacagc
aacctgagtcagaccagtaggtcatcccggatgctggcagtgtttccagcgaatgggaag
atgcacagcactgtggattgcaatggtgtggtttccttggttggtggaccttcagttcct
acatcgcctgttggacagcttctgccagaggtgataatagataagccagctactgatgac
aatggaacaaccactgaaactgaaatgagaaagagaaggtcaagttctttccacgtttcc
atggactttctagaagatccttcccaaaggcaacgagcaatgagtatagccagcattcta
acaaatacagtagaagaacttgaagaatccaggcagaaatgcccaccctgttggtataaa
ttttccaacatattcttaatctgggactgttctccatattggttaaaagtgaaacatgtt
gtcaacctggttgtgatggacccatttgttgacctggccatcaccatctgtattgtctta
aatactcttttcatggccatggagcactatccaatgacggaccatttcaataatgtgctt
acagtaggaaacttggttttcactgggatctttacagcagaaatgtttctgaaaattatt
gccatggatccttactattatttccaagaaggctggaatatctttgacggttttattgtg
acgcttagcctggtagaacttggactcgccaatgtggaaggattatctgttctccgttca
tttcgattgctgcgagttttcaagttggcaaaatcttggccaacgttaaatatgctaata
aagatcatcggcaattccgtgggggctctgggaaatttaaccctcgtcttggccatcatc
gtcttcatttttgccgtggtcggcatgcagctctttggtaaaagctacaaagattgtgtc
tgcaagatcgccagtgattgtcaactcccacgctggcacatgaatgacttcttccactcc
ttcctgattgtgttccgcgtgctgtgtggggagtggatagagaccatgtgggactgtatg
gaggttgctggtcaagccatgtgccttactgtcttcatgatggtcatggtgattggaaac
ctagtggtcctgaatctctttctggccttgcttctgagctcatttagtgcagacaacctt
gcagccactgatgatgataatgaaatgaataatctccaaattgctgtggataggatgcac
aaaggagtagcttatgtgaaaagaaaaatatatgaatttattcaacagtccttcattagg
aaacaaaagattttagatgaaattaaaccacttgatgatctaaacaacaagaaagacagt
tgtatgtccaatcatacagcagaaattgggaaagatcttgactatcttaaagatgtaaat
ggaactacaagtggtataggaactggcagcagtgttgaaaaatacattattgatgaaagt
gattacatgtcattcataaacaaccccagtcttactgtgactgtaccaattgctgtagga
gaatctgactttgaaaatttaaacacggaagactttagtagtgaatcggatctggaagaa
agcaaagagaaactgaatgaaagcagtagctcatcagaaggtagcactgtggacatcggc
gcacctgtagaagaacagcccgtagtggaacctgaagaaactcttgaaccagaagcttgt
ttcactgaaggctgtgtacaaagattcaagtgttgtcaaatcaatgtggaagaaggcaga
ggaaaacaatggtggaacctgagaaggacgtgtttccgaatagttgaacataactggttt
gagaccttcattgttttcatgattctccttagtagtggtgctctggcatttgaagatata
tatattgatcagcgaaagacgattaagacgatgttggaatatgctgacaaggttttcact
tacattttcattctggaaatgcttctaaaatgggtggcatatggctatcaaacatatttc
accaatgcctggtgttggctggacttcttaattgttgatgtttcattggtcagtttaaca
gcaaatgccttgggttactcagaacttggagccatcaaatctctcaggacactaagagct
ctgagacctctaagagccttatctcgatttgaagggatgagggtggttgtgaatgccctt
ttaggagcaattccatccatcatgaatgtgcttctggtttgtcttatattctggctaatt
ttcagcatcatgggcgtaaatttgtttgctggcaaattctaccactgtattaacaccaca
actggtgacaggtttgacatcgaagacgtgaataatcatactgattgcctaaaactaata
gaaagaaatgagactgctcgatggaaaaatgtgaaagtaaactttgataatgtaggattt
gggtatctctctttgcttcaagttgccacattcaaaggatggatggatataatgtatgca
gcagttgattccagaaatgtggaactccagcctaagtatgaagaaagtctgtacatgtat
ctttactttgttattttcatcatctttgggtccttcttcaccttgaacctgtttattggt
gtcatcatagataatttcaaccagcagaaaaagaagtttggaggtcaagacatctttatg
acagaagaacagaagaaatactataatgcaatgaaaaaattaggatcgaaaaaaccgcaa
aagcctatacctcgaccaggaaacaaatttcaaggaatggtctttgacttcgtaaccaga
caagtttttgacataagcatcatgattctcatctgtcttaacatggtcacaatgatggtg
gaaacagatgaccagagtgaatatgtgactaccattttgtcacgcatcaatctggtgttc
attgtgctatttactggagagtgtgtactgaaactcatctctctacgccattattatttt
accattggatggaatatttttgattttgtggttgtcattctctccattgtaggtatgttt
cttgccgagctgatagaaaagtatttcgtgtcccctaccctgttccgagtgatccgtctt
gctaggattggccgaatcctacgtctgatcaaaggagcaaaggggatccgcacgctgctc
tttgctttgatgatgtcccttcctgcgttgtttaacatcggcctcctactcttcctagtc
atgttcatctacgccatctttgggatgtccaactttgcctatgttaagagggaagttggg
atcgatgacatgttcaactttgagacctttggcaacagcatgatctgcctattccaaatt
acaacctctgctggctgggatggattgctagcacccattctcaacagtaagccacccgac
tgtgaccctaataaagttaaccctggaagctcagttaagggagactgtgggaacccatct
gttggaattttcttttttgtcagttacatcatcatatccttcctggttgtggtgaacatg
tacatcgcggtcatcctggagaacttcagtgttgctactgaagaaagtgcagagcctctg
agtgaggatgactttgagatgttctatgaggtttgggagaagtttgatcccgatgcaact
cagttcatggaatttgaaaaattatctcagtttgcagctgcgcttgaaccgcctctcaat
ctgccacaaccaaacaaactccagctcattgccatggatttgcccatggtgagtggtgac
cggatccactgtcttgatatcttatttgcttttacaaagcgggttctaggagagagtgga
gagatggatgctctacgaatacagatggaagagcgattcatggcttccaatccttccaag
gtctcctatcagccaatcactactactttaaaacgaaaacaagaggaagtatctgctgtc
attattcagcgtgcttacagacgccaccttttaaagcgaactgtaaaacaagcttccttt
acgtacaataaaaacaaaatcaaaggtggggctaatcttcttataaaagaagacatgata
attgacagaataaatgaaaactctattacagaaaaaactgatctgaccatgtccactgca
gcttgtccaccttcctatgaccgggtgacaaagccaattgtggaaaaacatgagcaagaa
ggcaaagatgaaaaagccaaagggaaataa

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