KEGG   Homo sapiens (human): 6329
Entry
6329              CDS       T01001                                 

Gene name
SCN4A, CMS16, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1
Definition
(RefSeq) sodium voltage-gated channel alpha subunit 4
  KO
K04837  voltage-gated sodium channel type IV alpha
Organism
hsa  Homo sapiens (human)
Disease
H00215  Periodic paralysis
H00743  Paramyotonia congenita
H00744  Potassium-aggravated myotonia
H00745  Hyperkalemic periodic paralysis (HyperPP)
H00746  Hypokalemic periodic paralysis (HypoPP)
H00770  Congenital myasthenic syndrome
H01780  Non-dystrophic myotonia
Drug target
Actisomide: D02762
Ajmaline: D00199
Aminobenzoic acid (DG00379): D02456 D02906 D02907
Amiodarone (DG00204): D00636<JP/US> D02910
Aprindine (DG00199): D01326<JP> D02969
Articaine (DG00805): D02991 D07468
Benzocaine: D00552<JP>
Bupivacaine (DG00801): D01450<JP/US> D07552<US>
Carbamazepine: D00252<JP/US>
Cenobamate: D11150<US>
Chloroprocaine (DG00800): D00732<US> D07678
Cibenzoline (DG00209): D01455<JP> D03492
Cinchocaine (DG00297): D00733 D02220
Cocaine (DG00808): D00110 D02182<JP/US>
Disopyramide (DG00194): D00303<JP> D00637<JP/US>
Eleclazine: D11155
Encainide (DG00203): D03991 D07894
Eslicarbazepine (DG00848): D09215 D09612<US>
Ethyl piperidinoacetylaminobenzoate: D01519<JP>
Etidocaine (DG00804): D00737 D04095
Flecainide (DG00201): D00638<JP/US> D07962
Fosphenytoin (DG00847): D02096<US> D07595<JP> D07993
Indecainide hydrochloride: D04521
Lamotrigine: D00354<JP/US>
Levobupivacaine (DG00807): D01287<JP> D08116
Levosemotiadil fumarate: D09833
Lidocaine (DG00196): D00358<JP/US> D02086<JP/US> D08127<JP/US>
Lorajmine: D04774
Mephenytoin: D00375
Mepivacaine (DG00802): D00738<JP/US> D08181
Mexiletine (DG00197): D00639<JP/US> D08215
Oxcarbazepine: D00533<US>
Oxetacaine (DG00299): D01152<JP> D08311
Oxybuprocaine (DG00392): D01768<JP> D08319
Phenytoin (DG00846): D00512<JP/US> D02103<JP/US>
Pilsicainide (DG01257): D01554<JP> D08377
Pirmenol (DG01381): D01785<JP> D06517 D08394
Pramocaine (DG00300): D00739 D08407
Prilocaine (DG00803): D00553 D01243<US>
Procainamide (DG00193): D00477<JP/US> D08421
Procaine (DG00298): D00740<JP> D08422
Propafenone (DG00200): D00640<JP/US> D08435
Proxymetacaine (DG01145): D02098<US> D08448
Quinidine (DG00192): D00642<US> D00643 D02272<JP/US> D08458 D08459
Recainam (DG01421): D05708 D05709
Ropivacaine (DG00806): D04048<JP/US> D08490
Rufinamide: D05775<JP/US>
Sparteine (DG00195): D01041 D02239
Tetracaine (DG00296): D00551 D00741<JP/US>
Tocainide (DG00198): D02088 D06172
Topiramate: D00537<JP/US>
Transcainide: D06203
Zonisamide: D00538<JP/US>
p-Butylaminobenzoyldiethylaminoethyl hydrochloride: D01967<JP>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6329 (SCN4A)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Sodium channel, voltage-gated (Nav)
   6329 (SCN4A)
SSDB
Motif
Pfam: Ion_trans Na_trans_assoc PKD_channel GPHH IQ Lustrin_cystein
Other DBs
NCBI-GeneID: 6329
NCBI-ProteinID: NP_000325
OMIM: 603967
HGNC: 10591
Ensembl: ENSG00000007314
Vega: OTTHUMG00000179046
Pharos: P35499(Tclin)
UniProt: P35499
LinkDB
Structure
PDB: 
6MBA 6AGF 6MC9

Position
17q23.3
AA seq 1836 aa
MARPSLCTLVPLGPECLRPFTRESLAAIEQRAVEEEARLQRNKQMEIEEPERKPRSDLEA
GKNLPMIYGDPPPEVIGIPLEDLDPYYSNKKTFIVLNKGKAIFRFSATPALYLLSPFSVV
RRGAIKVLIHALFSMFIMITILTNCVFMTMSDPPPWSKNVEYTFTGIYTFESLIKILARG
FCVDDFTFLRDPWNWLDFSVIMMAYLTEFVDLGNISALRTFRVLRALKTITVIPGLKTIV
GALIQSVKKLSDVMILTVFCLSVFALVGLQLFMGNLRQKCVRWPPPFNDTNTTWYSNDTW
YGNDTWYGNEMWYGNDSWYANDTWNSHASWATNDTFDWDAYISDEGNFYFLEGSNDALLC
GNSSDAGHCPEGYECIKTGRNPNYGYTSYDTFSWAFLALFRLMTQDYWENLFQLTLRAAG
KTYMIFFVVIIFLGSFYLINLILAVVAMAYAEQNEATLAEDKEKEEEFQQMLEKFKKHQE
ELEKAKAAQALEGGEADGDPAHGKDCNGSLDTSQGEKGAPRQSSSGDSGISDAMEELEEA
HQKCPPWWYKCAHKVLIWNCCAPWLKFKNIIHLIVMDPFVDLGITICIVLNTLFMAMEHY
PMTEHFDNVLTVGNLVFTGIFTAEMVLKLIAMDPYEYFQQGWNIFDSIIVTLSLVELGLA
NVQGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQ
LFGKSYKECVCKIALDCNLPRWHMHDFFHSFLIVFRILCGEWIETMWDCMEVAGQAMCLT
VFLMVMVIGNLVVLNLFLALLLSSFSADSLAASDEDGEMNNLQIAIGRIKLGIGFAKAFL
LGLLHGKILSPKDIMLSLGEADGAGEAGEAGETAPEDEKKEPPEEDLKKDNHILNHMGLA
DGPPSSLELDHLNFINNPYLTIQVPIASEESDLEMPTEEETDTFSEPEDSKKPPQPLYDG
NSSVCSTADYKPPEEDPEEQAEENPEGEQPEECFTEACVQRWPCLYVDISQGRGKKWWTL
RRACFKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRRVIRTILEYADKVFTYIFIMEM
LLKWVAYGFKVYFTNAWCWLDFLIVDVSIISLVANWLGYSELGPIKSLRTLRALRPLRAL
SRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYYCINTTTSERFDI
SEVNNKSECESLMHTGQVRWLNVKVNYDNVGLGYLSLLQVATFKGWMDIMYAAVDSREKE
EQPQYEVNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGKDIFMTEEQKKYY
NAMKKLGSKKPQKPIPRPQNKIQGMVYDLVTKQAFDITIMILICLNMVTMMVETDNQSQL
KVDILYNINMIFIIIFTGECVLKMLALRQYYFTVGWNIFDFVVVILSIVGLALSDLIQKY
FVSPTLFRVIRLARIGRVLRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFG
MSNFAYVKKESGIDDMFNFETFGNSIICLFEITTSAGWDGLLNPILNSGPPDCDPNLENP
GTSVKGDCGNPSIGICFFCSYIIISFLIVVNMYIAIILENFNVATEESSEPLGEDDFEMF
YETWEKFDPDATQFIAYSRLSDFVDTLQEPLRIAKPNKIKLITLDLPMVPGDKIHCLDIL
FALTKEVLGDSGEMDALKQTMEEKFMAANPSKVSYEPITTTLKRKHEEVCAIKIQRAYRR
HLLQRSMKQASYMYRHSHDGSGDDAPEKEGLLANTMSKMYGHENGNSSSPSPEEKGEAGD
AGPTMGLMPISPSDTAWPPAPPPGQTVRPGVKESLV
NT seq 5511 nt   +upstreamnt  +downstreamnt
atggccagaccatctctgtgcaccctggtgcctctgggccctgagtgcttgcgccccttc
acccgggagtcactggcagccatagaacagcgggcggtggaggaggaggcccggctgcag
cggaataagcagatggagattgaggagcccgaacggaagccacgaagtgacttggaggct
ggcaagaacctacccatgatctacggagaccccccgccggaggtcatcggcatccccctg
gaggacctggatccctactacagcaataagaagaccttcatcgtactcaacaagggcaag
gccatcttccgcttctccgccacacctgctctctacctgctgagccccttcagcgtagtc
aggcgcggggccatcaaggtgctcatccatgcgctgttcagcatgttcatcatgatcacc
atcttgaccaactgcgtattcatgaccatgagtgacccgcctccctggtccaagaatgtg
gagtacaccttcacagggatctacacctttgagtccctcatcaagatactggcccgaggc
ttctgtgtcgacgacttcacattcctccgggacccctggaactggctggacttcagtgtc
atcatgatggcgtacctgacagagtttgtggacttgggcaacatctcagccctgaggacc
ttccgggtgctgcgggccctcaaaaccatcacggtcatcccagggctgaagacgatcgtg
ggggccctgatccagtcggtgaaaaagctgtcggatgtgatgatcctcactgtcttctgc
ctgagcgtctttgcgctggtaggactgcagctcttcatgggaaacctgaggcagaagtgt
gtgcgctggcccccgccgttcaacgacaccaacaccacgtggtacagcaatgacacgtgg
tacggcaatgacacatggtatggcaatgagatgtggtacggcaatgactcatggtatgcc
aacgacacgtggaacagccatgcaagctgggccaccaacgatacctttgattgggacgcc
tacatcagtgatgaagggaacttctacttcctggagggctccaacgatgccctgctctgt
gggaacagcagtgatgctgggcactgccctgagggttatgagtgcatcaagaccgggcgg
aaccccaactatggctacaccagctatgacaccttcagctgggccttcttggctctcttc
cgcctcatgacacaggactattgggagaacctcttccagctgacccttcgagcagctggc
aagacctacatgatcttcttcgtggtcatcatcttcctgggctctttctacctcatcaat
ctgatcctggccgtggtggccatggcatatgccgagcagaatgaggccaccctggccgag
gataaggagaaagaggaggagtttcagcagatgcttgagaagttcaaaaagcaccaggag
gagctggagaaggccaaggccgcccaagctctggaaggtggggaggcagatggggaccca
gcccatggcaaagactgcaatggcagcctggacacatcgcaaggggagaagggagccccg
aggcagagcagcagcggagacagcggcatctccgacgccatggaagaactggaagaggcc
caccaaaagtgcccaccatggtggtacaagtgcgcccacaaagtgctcatatggaactgc
tgcgccccgtggctgaagttcaagaacatcatccacctgatcgtcatggacccgttcgtg
gacctgggcatcaccatctgcatcgtgctcaacaccctcttcatggccatggaacattac
cccatgacggagcactttgacaacgtgctcactgtgggcaacctggtcttcacaggcatc
ttcacagcagagatggttctgaagctgattgccatggacccctacgagtatttccagcag
ggttggaatatcttcgacagcatcatcgtcaccctcagcctggtagagctaggcctggcc
aacgtacagggactgtctgtgctacgctccttccgtctgctgcgggtcttcaagctggcc
aagtcgtggccaacgctgaacatgctcatcaagatcattggcaattcagtgggggcgctg
ggtaacctgacgctggtgctggctatcatcgtgttcatcttcgccgtggtgggcatgcag
ctgtttggcaagagctacaaggagtgcgtgtgcaagattgccttggactgcaacctgccg
cgctggcacatgcatgatttcttccactccttcctcatcgtcttccgcatcctgtgcggg
gagtggatcgagaccatgtgggactgcatggaggtggccggccaagccatgtgcctcacc
gtcttcctcatggtcatggtcatcggcaatcttgtggtcctgaacctgttcctggctctg
ctgctgagctccttcagcgccgacagtctggcagcctcggatgaggatggcgagatgaac
aacctgcagattgccatcgggcgcatcaagttgggcatcggctttgccaaggccttcctc
ctggggctgctgcatggcaagatcctgagccccaaggacatcatgctcagcctcggggag
gctgacggggccggggaggctggagaggcgggggagactgcccccgaggatgagaagaag
gagccgcccgaggaggacctgaagaaggacaatcacatcctgaaccacatgggcctggct
gacggccccccatccagcctcgagctggaccaccttaacttcatcaacaacccctacctg
accatacaggtgcccatcgcctccgaggagtccgacctggagatgcccaccgaggaggaa
accgacactttctcagagcctgaggatagcaagaagccgccgcagcctctctatgatggg
aactcgtccgtctgcagcacagctgactacaagccccccgaggaggaccctgaggagcag
gcagaggagaaccccgagggggagcagcctgaggagtgcttcactgaggcctgcgtgcag
cgctggccctgcctctacgtggacatctcccagggccgtgggaagaagtggtggactctg
cgcagggcctgcttcaagattgtcgagcacaactggttcgagaccttcattgtcttcatg
atcctgctcagcagtggggctctggccttcgaggacatctacattgagcagcggcgagtc
attcgcaccatcctagaatatgccgacaaggtcttcacctacatcttcatcatggagatg
ctgctcaaatgggtggcctacggctttaaggtgtacttcaccaacgcctggtgctggctc
gacttcctcatcgtggatgtctccatcatcagcttggtggccaactggctgggctactcg
gagctgggacccatcaaatccctgcggacactgcgggccctgcgtcccctgagggcactg
tcccgattcgagggcatgagggtggtggtgaacgccctcctaggcgccatcccctccatc
atgaatgtgctgcttgtctgcctcatcttctggctgatcttcagcatcatgggtgtcaac
ctgtttgccggcaagttctactactgcatcaacaccaccacctctgagaggttcgacatc
tccgaggtcaacaacaagtctgagtgcgagagcctcatgcacacaggccaggtccgctgg
ctcaatgtcaaggtcaactacgacaacgtgggtctgggctacctctccctcctgcaggtg
gccaccttcaagggttggatggacatcatgtatgcagccgtggactcccgggagaaggag
gagcagccgcagtacgaggtgaacctctacatgtacctctactttgtcatcttcatcatc
tttggctccttcttcaccctcaacctcttcattggcgtcatcattgacaacttcaaccag
cagaagaagaagttaggggggaaagacatctttatgacggaggaacagaagaaatactat
aacgccatgaagaagcttggctccaagaagcctcagaagccaattccccggccccagaac
aagatccagggcatggtgtatgacctcgtgacgaagcaggccttcgacatcaccatcatg
atcctcatctgcctcaacatggtcaccatgatggtggagacagacaaccagagccagctc
aaggtggacatcctgtacaacatcaacatgatcttcatcatcatcttcacaggggagtgc
gtgctcaagatgctcgccctgcgccagtactacttcaccgttggctggaacatctttgac
ttcgtggtcgtcatcctgtccattgtgggccttgccctctctgacctgatccagaagtac
ttcgtgtcacccacgctgttccgtgtgatccgcctggcgcggattgggcgtgtcctgcgg
ctgatccgcggggccaagggcatccggacgctgctgttcgccctcatgatgtcgctgcct
gccctcttcaacatcggcctcctcctcttcctggtcatgttcatctactccatcttcggc
atgtccaactttgcctacgtcaagaaggagtcgggcatcgatgatatgttcaacttcgag
accttcggcaacagcatcatctgcctgttcgagatcaccacgtcggccggctgggacggg
ctcctcaaccccatcctcaacagcgggcccccagactgtgaccccaacctggagaacccg
ggcaccagtgtcaagggtgactgcggcaacccctccatcggcatctgcttcttctgcagc
tatatcatcatctccttcctcatcgtggtcaacatgtacatcgccatcatcctggagaac
ttcaatgtggccacagaggagagcagcgagccccttggtgaagatgactttgagatgttc
tacgagacatgggagaagttcgaccccgacgccacccagttcatcgcctacagccgcctc
tcagacttcgtggacaccctgcaggaaccgctgaggattgccaagcccaacaagatcaag
ctcatcacactggacttgcccatggtgccaggggacaagatccactgcctggacatcctc
tttgccctgaccaaagaggtcctgggtgactctggggaaatggacgccctcaagcagacc
atggaggagaagttcatggcagccaacccctccaaggtgtcctacgagcccatcaccacc
accctcaagaggaagcacgaggaggtgtgcgccatcaagatccagagggcctaccgccgg
cacctgctacagcgctccatgaagcaggcatcctacatgtaccgccacagccacgacggc
agcggggatgacgcccctgagaaggaggggctgcttgccaacaccatgagcaagatgtat
ggccacgagaatgggaacagcagctcgccaagcccggaggagaagggcgaggcaggggac
gccggacccactatggggctgatgcccatcagcccctcagacactgcctggcctcccgcc
cctcccccagggcagactgtgcgcccaggtgtcaaggagtctcttgtctag

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