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
Dopaminergic synapse
Disease
H00775  
Familial or sporadic hemiplegic migraine
H00783  
Febrile seizures
H01815  
Malignant migrating partial seizures in infancy
H01818  
Dravet syndrome
Drug target
Aminobenzoic acid (DG00379): 
Amiodarone (DG00204): 
Aprindine (DG00199): 
Benzocaine: 
Bupivacaine (DG00801): 
Carbamazepine: 
Chloroprocaine (DG00800): 
Cibenzoline (DG00209): 
Cocaine (DG00808): 
Disopyramide (DG00194): 
Eslicarbazepine (DG00848): 
Ethyl piperidinoacetylaminobenzoate (DG02445): 
Etidocaine (DG00804): 
Flecainide (DG00201): 
Fosphenytoin (DG00847): 
Lamotrigine: 
Levobupivacaine (DG00807): 
Lidocaine (DG00196): 
Mepivacaine (DG00802): 
Mexiletine (DG00197): 
Oxcarbazepine: 
Oxetacaine (DG00299): 
Phenytoin (DG00846): 
Pilsicainide (DG01257): 
Pirmenol (DG01381): 
Procainamide (DG00193): 
Procaine (DG00298): 
Propafenone (DG00200): 
Proxymetacaine (DG01145): 
Quinidine (DG00192): 
Riluzole: 
Ropivacaine (DG00806): 
Rufinamide: 
Tetracaine (DG00296): 
Topiramate: 
Zonisamide: 
p-Butylaminobenzoate (DG02381): 
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 Motif
Other DBs
NCBI-GeneID: 
NCBI-ProteinID: 
OMIM: 
HGNC: 
Ensembl: 
Vega: 
Pharos: 
P35498(Tclin)
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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