KEGG T01001: 6331

Homo sapiens (human): 6331

Entry

6331              CDS       T01001

Symbol

SCN5A, CDCD2, CMD1E, CMPD2, HB1, HB2, HBBD, HH1, ICCD, IVF, LQT3, Nav1.5, PFHB1, SSS1, VF1

Name

(RefSeq) sodium voltage-gated channel alpha subunit 5

K04838

voltage-gated sodium channel type V alpha

Organism

hsa Homo sapiens (human)

Pathway

hsa04261

Adrenergic signaling in cardiomyocytes

Disease

H00294

Dilated cardiomyopathy

H00720

Long QT syndrome

H00728

Brugada syndrome

H00729

Sick sinus syndrome

H00730

Familial idiopathic ventricular fibrillation

H00731

Atrial fibrillation

H01263

Progressive cardiac conduction defect (PCCD)

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

Moracizine (DG00208):

D02087 D05077

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

Vernakalant:

D06665

Zonisamide:

D00538<JP/US>

p-Butylaminobenzoyldiethylaminoethyl hydrochloride:

D01967

Brite

KEGG Orthology (KO) [BR:hsa00001]
09150 Organismal Systems
  09153 Circulatory system
   04261 Adrenergic signaling in cardiomyocytes
    6331 (SCN5A)
09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    6331 (SCN5A)
Ion channels [BR:hsa04040]
Voltage-gated cation channels
  Sodium channel, voltage-gated (Nav)
   6331 (SCN5A)

SSDB

Motif

Pfam:

Ion_trans Na_trans_assoc Na_trans_cytopl PKD_channel GPHH IQ CcmD_alt

Other DBs

NCBI-GeneID:

NCBI-ProteinID:

OMIM:

HGNC:

Ensembl:

Pharos:

Q14524(Tclin)

UniProt:

Q14524 H9KVD2

Structure

LinkDB

Position

3:complement(38548062..38649687)

AA seq 2016 aa
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 +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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