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  Hemiplegic migraine
H00783  Febrile seizures
H01815  Malignant migrating partial seizures in infancy
H01818  Dravet syndrome
Drug target
Actisomide: D02762
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
Eleclazine: D11155
Encainide (DG00203): D03991 D07894
Eslicarbazepine (DG00848): D09215 D09612
Ethyl piperidinoacetylaminobenzoate: D01519
Etidocaine (DG00804): D00737 D04095
Flecainide (DG00201): D00638 D07962
Fosphenytoin (DG00847): D02096 D07595 D07993
Indecainide hydrochloride: D04521
Lamotrigine: D00354
Levobupivacaine (DG00807): D01287 D08116
Levosemotiadil fumarate: D09833
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
Recainam (DG01421): D05708 D05709
Ropivacaine (DG00806): D04048 D08490
Rufinamide: D05775
Sparteine (DG00195): D01041 D02239
Tetracaine (DG00296): D00551 D00741
Tocainide (DG00198): D02088 D06172
Topiramate: D00537
Transcainide: D06203
Zonisamide: D00538
p-Butylaminobenzoyldiethylaminoethyl hydrochloride: D01967
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09150 Organismal Systems
  09156 Nervous system
   04728 Dopaminergic synapse
    6323 (SCN1A)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6323 (SCN1A)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Sodium channel, voltage-gated (Nav)
   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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