KEGG T01001: 6331

Homo sapiens (human): 6331

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)

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:

D00642 D00643 D02272 D08458 D08459

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:

Other:

D01554 D01785 D02098 D06517 D08048 D08377 D08394

Class

SSDB

Motif

Pfam:

Ion_trans Na_trans_assoc DUF3451 PKD_channel IQ WLM

Other DBs

NCBI-GI:

NCBI-GeneID:

OMIM:

HGNC:

HPRD:

Ensembl:

Vega:

UniProt:

Q14524 E9PG18 E9PHB6 H9KVD2 K4DIA1 Q86V90

Structure

PDB:

4DJC 4DCK 2L53 2KBI

Position

3p21

AA seq 2015 aa
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 +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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Ontology (5)   
   KEGG BRITE (5)   
Disease (16)   
   KEGG DISEASE (7)   
   OMIM (9)   
Drug (68)   
   KEGG DRUG (68)   
Chemical substance (1)   
   KEGG COMPOUND (1)   
Genome (1)   
   KEGG GENOME (1)   
Gene (34)   
   KEGG ORTHOLOGY (1)   
   NCBI-Gene (1)   
   NCBI-GI (26)   
   UniGene (1)   
   HGNC (1)   
   HPRD (1)   
   ENSEMBL-HSA (1)   
   OC (1)   
   VEGA (1)   
Protein sequence (12)   
   UniProt (6)   
   RefSeq(pep) (6)   
DNA sequence (62)   
   RefSeq(nuc) (6)   
   GenBank (28)   
   EMBL (28)   
3D Structure (4)   
   PDB (4)   
Protein domain (6)   
   Pfam (6)   
All databases (209)   

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