KEGG   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 channel protein type 5 subunit alpha isoform a
  KO
K04838  voltage-gated sodium channel type V alpha
Organism
hsa  Homo sapiens (human)
Pathway
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04519  Cadherin signaling
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)
H02964  Sudden infant death syndrome
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<US> 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]
 09130 Environmental Information Processing
  09133 Signaling molecules and interaction
   04519 Cadherin signaling
    6331 (SCN5A)
 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 IQ_SCN5A_C GPHH CcmD_alt IQ FraC
Other DBs
NCBI-GeneID: 6331
NCBI-ProteinID: NP_932173
OMIM: 600163
HGNC: 10593
UniProt: Q14524
Structure
LinkDB
Position
3:complement(38548062..38649687)
AA seq 2016 aa
MANFLLPRGTSSFRRFTRESLAAIEKRMAEKQARGSTTLQESREGLPEEEAPRPQLDLQA
SKKLPDLYGNPPQELIGEPLEDLDPFYSTQKTFIVLNKGKTIFRFSATNALYVLSPFHPI
RRAAVKILVHSLFNMLIMCTILTNCVFMAQHDPPPWTKYVEYTFTAIYTFESLVKILARG
FCLHAFTFLRDPWNWLDFSVIIMAYTTEFVDLGNVSALRTFRVLRALKTISVISGLKTIV
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
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
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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