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

Gene name
SCN1A, EIEE6, FEB3, FEB3A, FHM3, GEFSP2, HBSCI, NAC1, Nav1.1, SCN1, SMEI
Definition
sodium channel, voltage-gated, type I, alpha subunit
Orthology
K04833  
voltage-gated sodium channel type I alpha
Organism
hsa  Homo sapiens (human)
Pathway
Dopaminergic synapse
Disease
H00775  
Familial or sporadic hemiplegic migraine
H00783  
Febrile seizures
Drug target
Quinidine: 
Procainamide: 
Disopyramide: 
Ajmaline: 
Lidocaine: 
Mexiletine: 
Tocainide: 
Aprindine: 
Propafenone: 
Flecainide: 
Encainide: 
Bunaftine: 
Moracizine: 
Cibenzoline: 
Tetracaine: 
Benzocaine: 
Cinchocaine: 
Procaine: 
Chloroprocaine: 
Bupivacaine: 
Mepivacaine: 
Prilocaine: 
Ropivacaine: 
Levobupivacaine: 
Cocaine: 
Dyclonine: 
Phenytoin: 
Mephenytoin: 
Fosphenytoin: 
Carbamazepine: 
Oxcarbazepine: 
Eslicarbazepine: 
Lamotrigine: 
Topiramate: 
Zonisamide: 
Ambroxol: 
Proxymetacaine: 
Other: 
Class
Organismal Systems; Nervous system; Dopaminergic synapse [PATH:hsa04728]
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
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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