KEGG   Homo sapiens (human): 6329
Entry
6329              CDS       T01001                                 
Symbol
SCN4A, CMS16, CMYP22A, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1
Name
(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
H00746  Hypokalemic periodic paralysis
H00770  Congenital myasthenic syndrome
H01780  Non-dystrophic myotonia
H01810  Congenital myopathy
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>
Bliretrigine: D12616
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<US>
Disopyramide (DG00194): D00303<JP> D00637<JP/US>
Eleclazine: D11155
Encainide (DG00203): D03991 D07894
Eslicarbazepine (DG00848): D09215 D09612<US>
Ethyl piperidinoacetylaminobenzoate: D01519
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<US>
Tocainide (DG00198): D02088 D06172
Topiramate: D00537<JP/US>
Transcainide: D06203
Zonisamide: D00538<JP/US>
p-Butylaminobenzoyldiethylaminoethyl hydrochloride: D01967
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
UniProt: P35499
Structure
Position
17:complement(63938554..63972918)
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

  All links  
Ontology (2)   
   KEGG BRITE (2)   
Disease (17)   
   KEGG DISEASE (8)   
   OMIM (9)   
Drug (98)   
   KEGG DRUG (98)   
Genome (1)   
   KEGG GENOME (1)   
Gene (22)   
   KEGG ORTHOLOGY (1)   
   RefGene (16)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (3)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (1)   
DNA sequence (5)   
   RefSeq(nuc) (1)   
   GenBank (2)   
   EMBL (2)   
3D Structure (3)   
   PDB (3)   
Protein domain (6)   
   Pfam (6)   
All databases (157)   

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