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
sodium channel, voltage-gated, type V, alpha subunit
Orthology
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
Quinidine: 
Procainamide: 
Disopyramide: 
Ajmaline: 
Lidocaine: 
Mexiletine: 
Tocainide: 
Aprindine: 
Propafenone: 
Flecainide: 
Encainide: 
Bunaftine: 
Moracizine: 
Cibenzoline: 
Tetracaine: 
Benzocaine: 
Cinchocaine: 
Procaine: 
Chloroprocaine: 
Bupivacaine: 
Mepivacaine: 
Prilocaine: 
Ropivacaine: 
Levobupivacaine: 
Cocaine: 
Dyclonine: 
Phenytoin: 
Mephenytoin: 
Fosphenytoin: 
Carbamazepine: 
Oxcarbazepine: 
Eslicarbazepine: 
Lamotrigine: 
Topiramate: 
Zonisamide: 
Ambroxol: 
Proxymetacaine: 
Other: 
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-GI: 
NCBI-GeneID: 
OMIM: 
HGNC: 
HPRD: 
Ensembl: 
Vega: 
UniProt: 
Structure
PDB: 

Jmol
Position
3p21
AA seq 2015 aa AA seqDB search
MANFLLPRGTSSFRRFTRESLAAIEKRMAEKQARGSTTLQESREGLPEEEAPRPQLDLQA
SKKLPDLYGNPPQELIGEPLEDLDPFYSTQKTFIVLNKGKTIFRFSATNALYVLSPFHPI
RRAAVKILVHSLFNMLIMCTILTNCVFMAQHDPPPWTKYVEYTFTAIYTFESLVKILARG
FCLHAFTFLRDPWNWLDFSVIIMAYTTEFVDLGNVSALRTFRVLRALKTISVISGLKTIV
GALIQSVKKLADVMVLTVFCLSVFALIGLQLFMGNLRHKCVRNFTALNGTNGSVEADGLV
WESLDLYLSDPENYLLKNGTSDVLLCGNSSDAGTCPEGYRCLKAGENPDHGYTSFDSFAW
AFLALFRLMTQDCWERLYQQTLRSAGKIYMIFFMLVIFLGSFYLVNLILAVVAMAYEEQN
QATIAETEEKEKRFQEAMEMLKKEHEALTIRGVDTVSRSSLEMSPLAPVNSHERRSKRRK
RMSSGTEECGEDRLPKSDSEDGPRAMNHLSLTRGLSRTSMKPRSSRGSIFTFRRRDLGSE
ADFADDENSTAGESESHHTSLLVPWPLRRTSAQGQPSPGTSAPGHALHGKKNSTVDCNGV
VSLLGAGDPEATSPGSHLLRPVMLEHPPDTTTPSEEPGGPQMLTSQAPCVDGFEEPGARQ
RALSAVSVLTSALEELEESRHKCPPCWNRLAQRYLIWECCPLWMSIKQGVKLVVMDPFTD
LTITMCIVLNTLFMALEHYNMTSEFEEMLQVGNLVFTGIFTAEMTFKIIALDPYYYFQQG
WNIFDSIIVILSLMELGLSRMSNLSVLRSFRLLRVFKLAKSWPTLNTLIKIIGNSVGALG
NLTLVLAIIVFIFAVVGMQLFGKNYSELRDSDSGLLPRWHMMDFFHAFLIIFRILCGEWI
ETMWDCMEVSGQSLCLLVFLLVMVIGNLVVLNLFLALLLSSFSADNLTAPDEDREMNNLQ
LALARIQRGLRFVKRTTWDFCCGLLRQRPQKPAALAAQGQLPSCIATPYSPPPPETEKVP
PTRKETRFEEGEQPGQGTPGDPEPVCVPIAVAESDTDDQEEDEENSLGTEEESSKQESQP
VSGGPEAPPDSRTWSQVSATASSEAEASASQADWRQQWKAEPQAPGCGETPEDSCSEGST
ADMTNTAELLEQIPDLGQDVKDPEDCFTEGCVRRCPCCAVDTTQAPGKVWWRLRKTCYHI
VEHSWFETFIIFMILLSSGALAFEDIYLEERKTIKVLLEYADKMFTYVFVLEMLLKWVAY
GFKKYFTNAWCWLDFLIVDVSLVSLVANTLGFAEMGPIKSLRTLRALRPLRALSRFEGMR
VVVNALVGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFGRCINQTEGDLPLNYTIVNNK
SQCESLNLTGELYWTKVKVNFDNVGAGYLALLQVATFKGWMDIMYAAVDSRGYEEQPQWE
YNLYMYIYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGQDIFMTEEQKKYYNAMKKL
GSKKPQKPIPRPLNKYQGFIFDIVTKQAFDVTIMFLICLNMVTMMVETDDQSPEKINILA
KINLLFVAIFTGECIVKLAALRHYYFTNSWNIFDFVVVILSIVGTVLSDIIQKYFFSPTL
FRVIRLARIGRILRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFGMANFAY
VKWEAGIDDMFNFQTFANSMLCLFQITTSAGWDGLLSPILNTGPPYCDPTLPNSNGSRGD
CGSPAVGILFFTTYIIISFLIVVNMYIAIILENFSVATEESTEPLSEDDFDMFYEIWEKF
DPEATQFIEYSVLSDFADALSEPLRIAKPNQISLINMDLPMVSGDRIHCMDILFAFTKRV
LGESGEMDALKIQMEEKFMAANPSKISYEPITTTLRRKHEEVSAMVIQRAFRRHLLQRSL
KHASFLFRQQAGSGLSEEDAPEREGLIAYVMSENFSRPLGPPSSSSISSTSFPPSYDSVT
RATSDNLQVRGSDYSHSEDLADFPPSPDRDRESIV
NT seq 6048 nt NT seq  +upstreamnt  +downstreamnt
atggcaaacttcctattacctcggggcaccagcagcttccgcaggttcacacgggagtcc
ctggcagccatcgagaagcgcatggcagagaagcaagcccgcggctcaaccaccttgcag
gagagccgagaggggctgcccgaggaggaggctccccggccccagctggacctgcaggcc
tccaaaaagctgccagatctctatggcaatccaccccaagagctcatcggagagcccctg
gaggacctggaccccttctatagcacccaaaagactttcatcgtactgaataaaggcaag
accatcttccggttcagtgccaccaacgccttgtatgtcctcagtcccttccaccccatc
cggagagcggctgtgaagattctggttcactcgctcttcaacatgctcatcatgtgcacc
atcctcaccaactgcgtgttcatggcccagcacgaccctccaccctggaccaagtatgtc
gagtacaccttcaccgccatttacacctttgagtctctggtcaagattctggctcgaggc
ttctgcctgcacgcgttcactttccttcgggacccatggaactggctggactttagtgtg
attatcatggcatacacaactgaatttgtggacctgggcaatgtctcagccttacgcacc
ttccgagtcctccgggccctgaaaactatatcagtcatttcagggctgaagaccatcgtg
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
gaagatgaggagaacagcctgggcacggaggaggagtccagcaagcaggaatcccagcct
gtgtccggtggcccagaggcccctccggattccaggacctggagccaggtgtcagcgact
gcctcctctgaggccgaggccagtgcatctcaggccgactggcggcagcagtggaaagcg
gaaccccaggccccagggtgcggtgagaccccagaggacagttgctccgagggcagcaca
gcagacatgaccaacaccgctgagctcctggagcagatccctgacctcggccaggatgtc
aaggacccagaggactgcttcactgaaggctgtgtccggcgctgtccctgctgtgcggtg
gacaccacacaggccccagggaaggtctggtggcggttgcgcaagacctgctaccacatc
gtggagcacagctggttcgagacattcatcatcttcatgatcctactcagcagtggagcg
ctggccttcgaggacatctacctagaggagcggaagaccatcaaggttctgcttgagtat
gccgacaagatgttcacatatgtcttcgtgctggagatgctgctcaagtgggtggcctac
ggcttcaagaagtacttcaccaatgcctggtgctggctcgacttcctcatcgtagacgtc
tctctggtcagcctggtggccaacaccctgggctttgccgagatgggccccatcaagtca
ctgcggacgctgcgtgcactccgtcctctgagagctctgtcacgatttgagggcatgagg
gtggtggtcaatgccctggtgggcgccatcccgtccatcatgaacgtcctcctcgtctgc
ctcatcttctggctcatcttcagcatcatgggcgtgaacctctttgcggggaagtttggg
aggtgcatcaaccagacagagggagacttgcctttgaactacaccatcgtgaacaacaag
agccagtgtgagtccttgaacttgaccggagaattgtactggaccaaggtgaaagtcaac
tttgacaacgtgggggccgggtacctggcccttctgcaggtggcaacatttaaaggctgg
atggacattatgtatgcagctgtggactccagggggtatgaagagcagcctcagtgggaa
tacaacctctacatgtacatctattttgtcattttcatcatctttgggtctttcttcacc
ctgaacctctttattggtgtcatcattgacaacttcaaccaacagaagaaaaagttaggg
ggccaggacatcttcatgacagaggagcagaagaagtactacaatgccatgaagaagctg
ggctccaagaagccccagaagcccatcccacggcccctgaacaagtaccagggcttcata
ttcgacattgtgaccaagcaggcctttgacgtcaccatcatgtttctgatctgcttgaat
atggtgaccatgatggtggagacagatgaccaaagtcctgagaaaatcaacatcttggcc
aagatcaacctgctctttgtggccatcttcacaggcgagtgtattgtcaagctggctgcc
ctgcgccactactacttcaccaacagctggaatatcttcgacttcgtggttgtcatcctc
tccatcgtgggcactgtgctctcggacatcatccagaagtacttcttctccccgacgctc
ttccgagtcatccgcctggcccgaataggccgcatcctcagactgatccgaggggccaag
gggatccgcacgctgctctttgccctcatgatgtccctgcctgccctcttcaacatcggg
ctgctgctcttcctcgtcatgttcatctactccatctttggcatggccaacttcgcttat
gtcaagtgggaggctggcatcgacgacatgttcaacttccagaccttcgccaacagcatg
ctgtgcctcttccagatcaccacgtcggccggctgggatggcctcctcagccccatcctc
aacactgggccgccctactgcgaccccactctgcccaacagcaatggctctcggggggac
tgcgggagcccagccgtgggcatcctcttcttcaccacctacatcatcatctccttcctc
atcgtggtcaacatgtacattgccatcatcctggagaacttcagcgtggccacggaggag
agcaccgagcccctgagtgaggacgacttcgatatgttctatgagatctgggagaaattt
gacccagaggccactcagtttattgagtattcggtcctgtctgactttgccgatgccctg
tctgagccactccgtatcgccaagcccaaccagataagcctcatcaacatggacctgccc
atggtgagtggggaccgcatccattgcatggacattctctttgccttcaccaaaagggtc
ctgggggagtctggggagatggacgccctgaagatccagatggaggagaagttcatggca
gccaacccatccaagatctcctacgagcccatcaccaccacactccggcgcaagcacgaa
gaggtgtcggccatggttatccagagagccttccgcaggcacctgctgcaacgctctttg
aagcatgcctccttcctcttccgtcagcaggcgggcagcggcctctccgaagaggatgcc
cctgagcgagagggcctcatcgcctacgtgatgagtgagaacttctcccgaccccttggc
ccaccctccagctcctccatctcctccacttccttcccaccctcctatgacagtgtcact
agagccaccagcgataacctccaggtgcgggggtctgactacagccacagtgaagatctc
gccgacttccccccttctccggacagggaccgtgagtccatcgtgtga

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