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
hsa04261  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: 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
Encainide (DG00203): D03991 D07894
Eslicarbazepine (DG00848): D09215 D09612
Ethyl piperidinoacetylaminobenzoate: D01519
Etidocaine (DG00804): D00737 D04095
Flecainide (DG00201): D00638 D07962
Fosphenytoin (DG00847): D02096 D07595 D07993
Lamotrigine: D00354
Levobupivacaine (DG00807): D01287 D08116
Lidocaine (DG00196): D00358 D02086 D08127
Lorajmine: D04774
Mephenytoin: D00375
Mepivacaine (DG00802): D00738 D08181
Mexiletine (DG00197): D00639 D08215
Moracizine (DG00208): D02087 D05077
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
Ropivacaine (DG00806): D04048 D08490
Rufinamide: D05775
Sparteine (DG00195): D01041 D02239
Tetracaine (DG00296): D00551 D00741
Tocainide (DG00198): D02088 D06172
Topiramate: D00537
Vernakalant: D06665
Zonisamide: D00538
p-Butylaminobenzoyldiethylaminoethyl hydrochloride: D01967
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
Pfam: Ion_trans Na_trans_assoc Na_trans_cytopl PKD_channel GPHH IQ
Motif
Other DBs
NCBI-GeneID: 6331
NCBI-ProteinID: NP_001092874
OMIM: 600163
HGNC: 10593
Ensembl: ENSG00000183873
Vega: OTTHUMG00000156166
Pharos: Q14524(Tclin)
UniProt: Q14524 H9KVD2
Structure
PDB: 

Jmol
Position
3p22.2
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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