Entry |
|
Symbol |
SCN4A, CMS16, CMYO22A, CMYP22A, HOKPP2, HYKPP, HYPP, NAC1A, Na(V)1.4, Nav1.4, SkM1
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Name |
(RefSeq) sodium voltage-gated channel alpha subunit 4
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KO |
K04837 | voltage-gated sodium channel type IV alpha |
|
Organism |
|
Disease |
H00744 | Potassium-aggravated myotonia |
H00745 | Hyperkalemic periodic paralysis |
H00746 | Hypokalemic periodic paralysis |
H00770 | Congenital myasthenic syndrome |
H01780 | Non-dystrophic myotonia |
|
Drug target |
Ethyl piperidinoacetylaminobenzoate: | D01519 |
Indecainide hydrochloride: | D04521 |
Levosemotiadil fumarate: | D09833 |
p-Butylaminobenzoyldiethylaminoethyl hydrochloride: | D01967 |
|
Brite |
KEGG Orthology (KO) [BR:hsa00001]
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04040 Ion channels [BR:hsa04040]
6329 (SCN4A)
Ion channels [BR:hsa04040]
Voltage-gated cation channels
Sodium channel, voltage-gated (Nav)
6329 (SCN4A)
|
SSDB |
|
Motif |
|
Other DBs |
|
Structure |
|
LinkDB |
|
Position |
17:complement(63938554..63972918)
|
AA seq |
1836 aa
MARPSLCTLVPLGPECLRPFTRESLAAIEQRAVEEEARLQRNKQMEIEEPERKPRSDLEA
GKNLPMIYGDPPPEVIGIPLEDLDPYYSNKKTFIVLNKGKAIFRFSATPALYLLSPFSVV
RRGAIKVLIHALFSMFIMITILTNCVFMTMSDPPPWSKNVEYTFTGIYTFESLIKILARG
FCVDDFTFLRDPWNWLDFSVIMMAYLTEFVDLGNISALRTFRVLRALKTITVIPGLKTIV
GALIQSVKKLSDVMILTVFCLSVFALVGLQLFMGNLRQKCVRWPPPFNDTNTTWYSNDTW
YGNDTWYGNEMWYGNDSWYANDTWNSHASWATNDTFDWDAYISDEGNFYFLEGSNDALLC
GNSSDAGHCPEGYECIKTGRNPNYGYTSYDTFSWAFLALFRLMTQDYWENLFQLTLRAAG
KTYMIFFVVIIFLGSFYLINLILAVVAMAYAEQNEATLAEDKEKEEEFQQMLEKFKKHQE
ELEKAKAAQALEGGEADGDPAHGKDCNGSLDTSQGEKGAPRQSSSGDSGISDAMEELEEA
HQKCPPWWYKCAHKVLIWNCCAPWLKFKNIIHLIVMDPFVDLGITICIVLNTLFMAMEHY
PMTEHFDNVLTVGNLVFTGIFTAEMVLKLIAMDPYEYFQQGWNIFDSIIVTLSLVELGLA
NVQGLSVLRSFRLLRVFKLAKSWPTLNMLIKIIGNSVGALGNLTLVLAIIVFIFAVVGMQ
LFGKSYKECVCKIALDCNLPRWHMHDFFHSFLIVFRILCGEWIETMWDCMEVAGQAMCLT
VFLMVMVIGNLVVLNLFLALLLSSFSADSLAASDEDGEMNNLQIAIGRIKLGIGFAKAFL
LGLLHGKILSPKDIMLSLGEADGAGEAGEAGETAPEDEKKEPPEEDLKKDNHILNHMGLA
DGPPSSLELDHLNFINNPYLTIQVPIASEESDLEMPTEEETDTFSEPEDSKKPPQPLYDG
NSSVCSTADYKPPEEDPEEQAEENPEGEQPEECFTEACVQRWPCLYVDISQGRGKKWWTL
RRACFKIVEHNWFETFIVFMILLSSGALAFEDIYIEQRRVIRTILEYADKVFTYIFIMEM
LLKWVAYGFKVYFTNAWCWLDFLIVDVSIISLVANWLGYSELGPIKSLRTLRALRPLRAL
SRFEGMRVVVNALLGAIPSIMNVLLVCLIFWLIFSIMGVNLFAGKFYYCINTTTSERFDI
SEVNNKSECESLMHTGQVRWLNVKVNYDNVGLGYLSLLQVATFKGWMDIMYAAVDSREKE
EQPQYEVNLYMYLYFVIFIIFGSFFTLNLFIGVIIDNFNQQKKKLGGKDIFMTEEQKKYY
NAMKKLGSKKPQKPIPRPQNKIQGMVYDLVTKQAFDITIMILICLNMVTMMVETDNQSQL
KVDILYNINMIFIIIFTGECVLKMLALRQYYFTVGWNIFDFVVVILSIVGLALSDLIQKY
FVSPTLFRVIRLARIGRVLRLIRGAKGIRTLLFALMMSLPALFNIGLLLFLVMFIYSIFG
MSNFAYVKKESGIDDMFNFETFGNSIICLFEITTSAGWDGLLNPILNSGPPDCDPNLENP
GTSVKGDCGNPSIGICFFCSYIIISFLIVVNMYIAIILENFNVATEESSEPLGEDDFEMF
YETWEKFDPDATQFIAYSRLSDFVDTLQEPLRIAKPNKIKLITLDLPMVPGDKIHCLDIL
FALTKEVLGDSGEMDALKQTMEEKFMAANPSKVSYEPITTTLKRKHEEVCAIKIQRAYRR
HLLQRSMKQASYMYRHSHDGSGDDAPEKEGLLANTMSKMYGHENGNSSSPSPEEKGEAGD
AGPTMGLMPISPSDTAWPPAPPPGQTVRPGVKESLV |
NT seq |
5511 nt +upstreamnt +downstreamnt
atggccagaccatctctgtgcaccctggtgcctctgggccctgagtgcttgcgccccttc
acccgggagtcactggcagccatagaacagcgggcggtggaggaggaggcccggctgcag
cggaataagcagatggagattgaggagcccgaacggaagccacgaagtgacttggaggct
ggcaagaacctacccatgatctacggagaccccccgccggaggtcatcggcatccccctg
gaggacctggatccctactacagcaataagaagaccttcatcgtactcaacaagggcaag
gccatcttccgcttctccgccacacctgctctctacctgctgagccccttcagcgtagtc
aggcgcggggccatcaaggtgctcatccatgcgctgttcagcatgttcatcatgatcacc
atcttgaccaactgcgtattcatgaccatgagtgacccgcctccctggtccaagaatgtg
gagtacaccttcacagggatctacacctttgagtccctcatcaagatactggcccgaggc
ttctgtgtcgacgacttcacattcctccgggacccctggaactggctggacttcagtgtc
atcatgatggcgtacctgacagagtttgtggacttgggcaacatctcagccctgaggacc
ttccgggtgctgcgggccctcaaaaccatcacggtcatcccagggctgaagacgatcgtg
ggggccctgatccagtcggtgaaaaagctgtcggatgtgatgatcctcactgtcttctgc
ctgagcgtctttgcgctggtaggactgcagctcttcatgggaaacctgaggcagaagtgt
gtgcgctggcccccgccgttcaacgacaccaacaccacgtggtacagcaatgacacgtgg
tacggcaatgacacatggtatggcaatgagatgtggtacggcaatgactcatggtatgcc
aacgacacgtggaacagccatgcaagctgggccaccaacgatacctttgattgggacgcc
tacatcagtgatgaagggaacttctacttcctggagggctccaacgatgccctgctctgt
gggaacagcagtgatgctgggcactgccctgagggttatgagtgcatcaagaccgggcgg
aaccccaactatggctacaccagctatgacaccttcagctgggccttcttggctctcttc
cgcctcatgacacaggactattgggagaacctcttccagctgacccttcgagcagctggc
aagacctacatgatcttcttcgtggtcatcatcttcctgggctctttctacctcatcaat
ctgatcctggccgtggtggccatggcatatgccgagcagaatgaggccaccctggccgag
gataaggagaaagaggaggagtttcagcagatgcttgagaagttcaaaaagcaccaggag
gagctggagaaggccaaggccgcccaagctctggaaggtggggaggcagatggggaccca
gcccatggcaaagactgcaatggcagcctggacacatcgcaaggggagaagggagccccg
aggcagagcagcagcggagacagcggcatctccgacgccatggaagaactggaagaggcc
caccaaaagtgcccaccatggtggtacaagtgcgcccacaaagtgctcatatggaactgc
tgcgccccgtggctgaagttcaagaacatcatccacctgatcgtcatggacccgttcgtg
gacctgggcatcaccatctgcatcgtgctcaacaccctcttcatggccatggaacattac
cccatgacggagcactttgacaacgtgctcactgtgggcaacctggtcttcacaggcatc
ttcacagcagagatggttctgaagctgattgccatggacccctacgagtatttccagcag
ggttggaatatcttcgacagcatcatcgtcaccctcagcctggtagagctaggcctggcc
aacgtacagggactgtctgtgctacgctccttccgtctgctgcgggtcttcaagctggcc
aagtcgtggccaacgctgaacatgctcatcaagatcattggcaattcagtgggggcgctg
ggtaacctgacgctggtgctggctatcatcgtgttcatcttcgccgtggtgggcatgcag
ctgtttggcaagagctacaaggagtgcgtgtgcaagattgccttggactgcaacctgccg
cgctggcacatgcatgatttcttccactccttcctcatcgtcttccgcatcctgtgcggg
gagtggatcgagaccatgtgggactgcatggaggtggccggccaagccatgtgcctcacc
gtcttcctcatggtcatggtcatcggcaatcttgtggtcctgaacctgttcctggctctg
ctgctgagctccttcagcgccgacagtctggcagcctcggatgaggatggcgagatgaac
aacctgcagattgccatcgggcgcatcaagttgggcatcggctttgccaaggccttcctc
ctggggctgctgcatggcaagatcctgagccccaaggacatcatgctcagcctcggggag
gctgacggggccggggaggctggagaggcgggggagactgcccccgaggatgagaagaag
gagccgcccgaggaggacctgaagaaggacaatcacatcctgaaccacatgggcctggct
gacggccccccatccagcctcgagctggaccaccttaacttcatcaacaacccctacctg
accatacaggtgcccatcgcctccgaggagtccgacctggagatgcccaccgaggaggaa
accgacactttctcagagcctgaggatagcaagaagccgccgcagcctctctatgatggg
aactcgtccgtctgcagcacagctgactacaagccccccgaggaggaccctgaggagcag
gcagaggagaaccccgagggggagcagcctgaggagtgcttcactgaggcctgcgtgcag
cgctggccctgcctctacgtggacatctcccagggccgtgggaagaagtggtggactctg
cgcagggcctgcttcaagattgtcgagcacaactggttcgagaccttcattgtcttcatg
atcctgctcagcagtggggctctggccttcgaggacatctacattgagcagcggcgagtc
attcgcaccatcctagaatatgccgacaaggtcttcacctacatcttcatcatggagatg
ctgctcaaatgggtggcctacggctttaaggtgtacttcaccaacgcctggtgctggctc
gacttcctcatcgtggatgtctccatcatcagcttggtggccaactggctgggctactcg
gagctgggacccatcaaatccctgcggacactgcgggccctgcgtcccctgagggcactg
tcccgattcgagggcatgagggtggtggtgaacgccctcctaggcgccatcccctccatc
atgaatgtgctgcttgtctgcctcatcttctggctgatcttcagcatcatgggtgtcaac
ctgtttgccggcaagttctactactgcatcaacaccaccacctctgagaggttcgacatc
tccgaggtcaacaacaagtctgagtgcgagagcctcatgcacacaggccaggtccgctgg
ctcaatgtcaaggtcaactacgacaacgtgggtctgggctacctctccctcctgcaggtg
gccaccttcaagggttggatggacatcatgtatgcagccgtggactcccgggagaaggag
gagcagccgcagtacgaggtgaacctctacatgtacctctactttgtcatcttcatcatc
tttggctccttcttcaccctcaacctcttcattggcgtcatcattgacaacttcaaccag
cagaagaagaagttaggggggaaagacatctttatgacggaggaacagaagaaatactat
aacgccatgaagaagcttggctccaagaagcctcagaagccaattccccggccccagaac
aagatccagggcatggtgtatgacctcgtgacgaagcaggccttcgacatcaccatcatg
atcctcatctgcctcaacatggtcaccatgatggtggagacagacaaccagagccagctc
aaggtggacatcctgtacaacatcaacatgatcttcatcatcatcttcacaggggagtgc
gtgctcaagatgctcgccctgcgccagtactacttcaccgttggctggaacatctttgac
ttcgtggtcgtcatcctgtccattgtgggccttgccctctctgacctgatccagaagtac
ttcgtgtcacccacgctgttccgtgtgatccgcctggcgcggattgggcgtgtcctgcgg
ctgatccgcggggccaagggcatccggacgctgctgttcgccctcatgatgtcgctgcct
gccctcttcaacatcggcctcctcctcttcctggtcatgttcatctactccatcttcggc
atgtccaactttgcctacgtcaagaaggagtcgggcatcgatgatatgttcaacttcgag
accttcggcaacagcatcatctgcctgttcgagatcaccacgtcggccggctgggacggg
ctcctcaaccccatcctcaacagcgggcccccagactgtgaccccaacctggagaacccg
ggcaccagtgtcaagggtgactgcggcaacccctccatcggcatctgcttcttctgcagc
tatatcatcatctccttcctcatcgtggtcaacatgtacatcgccatcatcctggagaac
ttcaatgtggccacagaggagagcagcgagccccttggtgaagatgactttgagatgttc
tacgagacatgggagaagttcgaccccgacgccacccagttcatcgcctacagccgcctc
tcagacttcgtggacaccctgcaggaaccgctgaggattgccaagcccaacaagatcaag
ctcatcacactggacttgcccatggtgccaggggacaagatccactgcctggacatcctc
tttgccctgaccaaagaggtcctgggtgactctggggaaatggacgccctcaagcagacc
atggaggagaagttcatggcagccaacccctccaaggtgtcctacgagcccatcaccacc
accctcaagaggaagcacgaggaggtgtgcgccatcaagatccagagggcctaccgccgg
cacctgctacagcgctccatgaagcaggcatcctacatgtaccgccacagccacgacggc
agcggggatgacgcccctgagaaggaggggctgcttgccaacaccatgagcaagatgtat
ggccacgagaatgggaacagcagctcgccaagcccggaggagaagggcgaggcaggggac
gccggacccactatggggctgatgcccatcagcccctcagacactgcctggcctcccgcc
cctcccccagggcagactgtgcgcccaggtgtcaaggagtctcttgtctag |