KEGG   Homo sapiens (human): 6331Help
Entry
6331              CDS       T01001                                 

Gene name
SCN5A, CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1
Definition
(RefSeq) sodium voltage-gated channel alpha subunit 5
  KO
K04838  
voltage-gated sodium channel type V alpha
Organism
hsa  Homo sapiens (human)
Pathway
Adrenergic signaling in cardiomyocytes
Disease
H00294  
Dilated cardiomyopathy (DCM)
H00720  
Long QT syndrome
H00728  
Brugada syndrome (BRS)
H00729  
Sick sinus syndrome (SSS)
H00730  
Familial idiopathic ventricular fibrillation
H00731  
Atrial fibrillation
H01263  
Progressive cardiac conduction defect (PCCD)
Drug target
Ajmaline: 
Ambroxol (DG01073): 
Aminobenzoic acid (DG00379): 
Aprindine (DG00199): 
Benzocaine: 
Bunaftine: 
Bupivacaine (DG00801): 
Carbamazepine: 
Chloroprocaine (DG00800): 
Cibenzoline (DG00209): 
Cinchocaine (DG00297): 
Cocaine (DG00808): 
Disopyramide (DG00194): 
Dyclonine (DG00809): 
Encainide (DG00203): 
Eslicarbazepine (DG00848): 
Flecainide (DG00201): 
Fosphenytoin (DG00847): 
Hydroquinidine (DG01791): 
Lamotrigine: 
Levobupivacaine (DG00807): 
Lidocaine (DG00196): 
Mephenytoin: 
Mepivacaine (DG00802): 
Mexiletine (DG00197): 
Moracizine (DG00208): 
Oxcarbazepine: 
Phenytoin (DG00846): 
Pilsicainide (DG01257): 
Pirmenol (DG01381): 
Prilocaine (DG00803): 
Procainamide (DG00193): 
Procaine (DG00298): 
Propafenone (DG00200): 
Proxymetacaine (DG01145): 
Quinidine (DG00192): 
Ropivacaine (DG00806): 
Tetracaine (DG00296): 
Tocainide (DG00198): 
Topiramate: 
Zonisamide: 
Brite
KEGG Orthology (KO) [BR:hsa00001]
 Organismal Systems
  Circulatory system
   04261 Adrenergic signaling in cardiomyocytes
    6331 (SCN5A)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Na+ channel, SCN alpha, NaV1.x
   6331 (SCN5A)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif Motif
Other DBs
NCBI-ProteinID: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
3p21
AA seq 2016 aa AA seqDB search
MANFLLPRGTSSFRRFTRESLAAIEKRMAEKQARGSTTLQESREGLPEEEAPRPQLDLQA
SKKLPDLYGNPPQELIGEPLEDLDPFYSTQKTFIVLNKGKTIFRFSATNALYVLSPFHPI
RRAAVKILVHSLFNMLIMCTILTNCVFMAQHDPPPWTKYVEYTFTAIYTFESLVKILARG
FCLHAFTFLRDPWNWLDFSVIIMAYVSENIKLGNLSALRTFRVLRALKTISVIPGLKTIV
GALIQSVKKLADVMVLTVFCLSVFALIGLQLFMGNLRHKCVRNFTALNGTNGSVEADGLV
WESLDLYLSDPENYLLKNGTSDVLLCGNSSDAGTCPEGYRCLKAGENPDHGYTSFDSFAW
AFLALFRLMTQDCWERLYQQTLRSAGKIYMIFFMLVIFLGSFYLVNLILAVVAMAYEEQN
QATIAETEEKEKRFQEAMEMLKKEHEALTIRGVDTVSRSSLEMSPLAPVNSHERRSKRRK
RMSSGTEECGEDRLPKSDSEDGPRAMNHLSLTRGLSRTSMKPRSSRGSIFTFRRRDLGSE
ADFADDENSTAGESESHHTSLLVPWPLRRTSAQGQPSPGTSAPGHALHGKKNSTVDCNGV
VSLLGAGDPEATSPGSHLLRPVMLEHPPDTTTPSEEPGGPQMLTSQAPCVDGFEEPGARQ
RALSAVSVLTSALEELEESRHKCPPCWNRLAQRYLIWECCPLWMSIKQGVKLVVMDPFTD
LTITMCIVLNTLFMALEHYNMTSEFEEMLQVGNLVFTGIFTAEMTFKIIALDPYYYFQQG
WNIFDSIIVILSLMELGLSRMSNLSVLRSFRLLRVFKLAKSWPTLNTLIKIIGNSVGALG
NLTLVLAIIVFIFAVVGMQLFGKNYSELRDSDSGLLPRWHMMDFFHAFLIIFRILCGEWI
ETMWDCMEVSGQSLCLLVFLLVMVIGNLVVLNLFLALLLSSFSADNLTAPDEDREMNNLQ
LALARIQRGLRFVKRTTWDFCCGLLRQRPQKPAALAAQGQLPSCIATPYSPPPPETEKVP
PTRKETRFEEGEQPGQGTPGDPEPVCVPIAVAESDTDDQEEDEENSLGTEEESSKQQESQ
PVSGGPEAPPDSRTWSQVSATASSEAEASASQADWRQQWKAEPQAPGCGETPEDSCSEGS
TADMTNTAELLEQIPDLGQDVKDPEDCFTEGCVRRCPCCAVDTTQAPGKVWWRLRKTCYH
IVEHSWFETFIIFMILLSSGALAFEDIYLEERKTIKVLLEYADKMFTYVFVLEMLLKWVA
YGFKKYFTNAWCWLDFLIVDVSLVSLVANTLGFAEMGPIKSLRTLRALRPLRALSRFEGM
RVVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFGRCINQTEGDLPLNYTIVNN
KSQCESLNLTGELYWTKVKVNFDNVGAGYLALLQVATFKGWMDIMYAAVDSRGYEEQPQW
EYNLYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKK
LGSKKPQKPIPRPLNKYQGFIFDIVTKQAFDVTIMFLICLNMVTMMVETDDQSPEKINIL
AKINLLFVAIFTGECIVKLAALRHYYFTNSWNIFDFVVVILSIVGTVLSDIIQKYFFSPT
LFRVIRLARIGRILRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFGMANFA
YVKWEAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGPPYCDPTLPNSNGSRG
DCGSPAVGILFFTTYIIISFLIVVNMYIAIILENFSVATEESTEPLSEDDFDMFYEIWEK
FDPEATQFIEYSVLSDFADALSEPLRIAKPNQISLINMDLPMVSGDRIHCMDILFAFTKR
VLGESGEMDALKIQMEEKFMAANPSKISYEPITTTLRRKHEEVSAMVIQRAFRRHLLQRS
LKHASFLFRQQAGSGLSEEDAPEREGLIAYVMSENFSRPLGPPSSSSISSTSFPPSYDSV
TRATSDNLQVRGSDYSHSEDLADFPPSPDRDRESIV
NT seq 6051 nt NT seq  +upstreamnt  +downstreamnt
atggcaaacttcctattacctcggggcaccagcagcttccgcaggttcacacgggagtcc
ctggcagccatcgagaagcgcatggcagagaagcaagcccgcggctcaaccaccttgcag
gagagccgagaggggctgcccgaggaggaggctccccggccccagctggacctgcaggcc
tccaaaaagctgccagatctctatggcaatccaccccaagagctcatcggagagcccctg
gaggacctggaccccttctatagcacccaaaagactttcatcgtactgaataaaggcaag
accatcttccggttcagtgccaccaacgccttgtatgtcctcagtcccttccaccccatc
cggagagcggctgtgaagattctggttcactcgctcttcaacatgctcatcatgtgcacc
atcctcaccaactgcgtgttcatggcccagcacgaccctccaccctggaccaagtatgtc
gagtacaccttcaccgccatttacacctttgagtctctggtcaagattctggctcgaggc
ttctgcctgcacgcgttcactttccttcgggacccatggaactggctggactttagtgtg
attatcatggcgtatgtatcagaaaatataaaactaggcaatttgtcggctcttcgaact
ttcagagtcctgagagctctaaaaactatttcagttatcccagggctgaagaccatcgtg
ggggccctgatccagtctgtgaagaagctggctgatgtgatggtcctcacagtcttctgc
ctcagcgtctttgccctcatcggcctgcagctcttcatgggcaacctaaggcacaagtgc
gtgcgcaacttcacagcgctcaacggcaccaacggctccgtggaggccgacggcttggtc
tgggaatccctggacctttacctcagtgatccagaaaattacctgctcaagaacggcacc
tctgatgtgttactgtgtgggaacagctctgacgctgggacatgtccggagggctaccgg
tgcctaaaggcaggcgagaaccccgaccacggctacaccagcttcgattcctttgcctgg
gcctttcttgcactcttccgcctgatgacgcaggactgctgggagcgcctctatcagcag
accctcaggtccgcagggaagatctacatgatcttcttcatgcttgtcatcttcctgggg
tccttctacctggtgaacctgatcctggccgtggtcgcaatggcctatgaggagcaaaac
caagccaccatcgctgagaccgaggagaaggaaaagcgcttccaggaggccatggaaatg
ctcaagaaagaacacgaggccctcaccatcaggggtgtggataccgtgtcccgtagctcc
ttggagatgtcccctttggccccagtaaacagccatgagagaagaagcaagaggagaaaa
cggatgtcttcaggaactgaggagtgtggggaggacaggctccccaagtctgactcagaa
gatggtcccagagcaatgaatcatctcagcctcacccgtggcctcagcaggacttctatg
aagccacgttccagccgcgggagcattttcacctttcgcaggcgagacctgggttctgaa
gcagattttgcagatgatgaaaacagcacagcgggggagagcgagagccaccacacatca
ctgctggtgccctggcccctgcgccggaccagtgcccagggacagcccagtcccggaacc
tcggctcctggccacgccctccatggcaaaaagaacagcactgtggactgcaatggggtg
gtctcattactgggggcaggcgacccagaggccacatccccaggaagccacctcctccgc
cctgtgatgctagagcacccgccagacacgaccacgccatcggaggagccaggcgggccc
cagatgctgacctcccaggctccgtgtgtagatggcttcgaggagccaggagcacggcag
cgggccctcagcgcagtcagcgtcctcaccagcgcactggaagagttagaggagtctcgc
cacaagtgtccaccatgctggaaccgtctcgcccagcgctacctgatctgggagtgctgc
ccgctgtggatgtccatcaagcagggagtgaagttggtggtcatggacccgtttactgac
ctcaccatcactatgtgcatcgtactcaacacactcttcatggcgctggagcactacaac
atgacaagtgaattcgaggagatgctgcaggtcggaaacctggtcttcacagggattttc
acagcagagatgaccttcaagatcattgccctcgacccctactactacttccaacagggc
tggaacatcttcgacagcatcatcgtcatccttagcctcatggagctgggcctgtcccgc
atgagcaacttgtcggtgctgcgctccttccgcctgctgcgggtcttcaagctggccaaa
tcatggcccaccctgaacacactcatcaagatcatcgggaactcagtgggggcactgggg
aacctgacactggtgctagccatcatcgtgttcatctttgctgtggtgggcatgcagctc
tttggcaagaactactcggagctgagggacagcgactcaggcctgctgcctcgctggcac
atgatggacttctttcatgccttcctcatcatcttccgcatcctctgtggagagtggatc
gagaccatgtgggactgcatggaggtgtcggggcagtcattatgcctgctggtcttcttg
cttgttatggtcattggcaaccttgtggtcctgaatctcttcctggccttgctgctcagc
tccttcagtgcagacaacctcacagcccctgatgaggacagagagatgaacaacctccag
ctggccctggcccgcatccagaggggcctgcgctttgtcaagcggaccacctgggatttc
tgctgtggtctcctgcggcagcggcctcagaagcccgcagcccttgccgcccagggccag
ctgcccagctgcattgccaccccctactccccgccacccccagagacggagaaggtgcct
cccacccgcaaggaaacacggtttgaggaaggcgagcaaccaggccagggcacccccggg
gatccagagcccgtgtgtgtgcccatcgctgtggccgagtcagacacagatgaccaagaa
gaagatgaggagaacagcctgggcacggaggaggagtccagcaagcagcaggaatcccag
cctgtgtccggtggcccagaggcccctccggattccaggacctggagccaggtgtcagcg
actgcctcctctgaggccgaggccagtgcatctcaggccgactggcggcagcagtggaaa
gcggaaccccaggccccagggtgcggtgagaccccagaggacagttgctccgagggcagc
acagcagacatgaccaacaccgctgagctcctggagcagatccctgacctcggccaggat
gtcaaggacccagaggactgcttcactgaaggctgtgtccggcgctgtccctgctgtgcg
gtggacaccacacaggccccagggaaggtctggtggcggttgcgcaagacctgctaccac
atcgtggagcacagctggttcgagacattcatcatcttcatgatcctactcagcagtgga
gcgctggccttcgaggacatctacctagaggagcggaagaccatcaaggttctgcttgag
tatgccgacaagatgttcacatatgtcttcgtgctggagatgctgctcaagtgggtggcc
tacggcttcaagaagtacttcaccaatgcctggtgctggctcgacttcctcatcgtagac
gtctctctggtcagcctggtggccaacaccctgggctttgccgagatgggccccatcaag
tcactgcggacgctgcgtgcactccgtcctctgagagctctgtcacgatttgagggcatg
agggtggtggtcaatgccctggtgggcgccatcccgtccatcatgaacgtcctcctcgtc
tgcctcatcttctggctcatcttcagcatcatgggcgtgaacctctttgcggggaagttt
gggaggtgcatcaaccagacagagggagacttgcctttgaactacaccatcgtgaacaac
aagagccagtgtgagtccttgaacttgaccggagaattgtactggaccaaggtgaaagtc
aactttgacaacgtgggggccgggtacctggcccttctgcaggtggcaacatttaaaggc
tggatggacattatgtatgcagctgtggactccagggggtatgaagagcagcctcagtgg
gaatacaacctctacatgtacatctattttgtcattttcatcatctttgggtctttcttc
accctgaacctctttattggtgtcatcattgacaacttcaaccaacagaagaaaaagtta
gggggccaggacatcttcatgacagaggagcagaagaagtactacaatgccatgaagaag
ctgggctccaagaagccccagaagcccatcccacggcccctgaacaagtaccagggcttc
atattcgacattgtgaccaagcaggcctttgacgtcaccatcatgtttctgatctgcttg
aatatggtgaccatgatggtggagacagatgaccaaagtcctgagaaaatcaacatcttg
gccaagatcaacctgctctttgtggccatcttcacaggcgagtgtattgtcaagctggct
gccctgcgccactactacttcaccaacagctggaatatcttcgacttcgtggttgtcatc
ctctccatcgtgggcactgtgctctcggacatcatccagaagtacttcttctccccgacg
ctcttccgagtcatccgcctggcccgaataggccgcatcctcagactgatccgaggggcc
aaggggatccgcacgctgctctttgccctcatgatgtccctgcctgccctcttcaacatc
gggctgctgctcttcctcgtcatgttcatctactccatctttggcatggccaacttcgct
tatgtcaagtgggaggctggcatcgacgacatgttcaacttccagaccttcgccaacagc
atgctgtgcctcttccagatcaccacgtcggccggctgggatggcctcctcagccccatc
ctcaacactgggccgccctactgcgaccccactctgcccaacagcaatggctctcggggg
gactgcgggagcccagccgtgggcatcctcttcttcaccacctacatcatcatctccttc
ctcatcgtggtcaacatgtacattgccatcatcctggagaacttcagcgtggccacggag
gagagcaccgagcccctgagtgaggacgacttcgatatgttctatgagatctgggagaaa
tttgacccagaggccactcagtttattgagtattcggtcctgtctgactttgccgatgcc
ctgtctgagccactccgtatcgccaagcccaaccagataagcctcatcaacatggacctg
cccatggtgagtggggaccgcatccattgcatggacattctctttgccttcaccaaaagg
gtcctgggggagtctggggagatggacgccctgaagatccagatggaggagaagttcatg
gcagccaacccatccaagatctcctacgagcccatcaccaccacactccggcgcaagcac
gaagaggtgtcggccatggttatccagagagccttccgcaggcacctgctgcaacgctct
ttgaagcatgcctccttcctcttccgtcagcaggcgggcagcggcctctccgaagaggat
gcccctgagcgagagggcctcatcgcctacgtgatgagtgagaacttctcccgacccctt
ggcccaccctccagctcctccatctcctccacttccttcccaccctcctatgacagtgtc
actagagccaccagcgataacctccaggtgcgggggtctgactacagccacagtgaagat
ctcgccgacttccccccttctccggacagggaccgtgagtccatcgtgtga

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