Homo sapiens (human): 8912
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Entry
8912 CDS
T01001
Symbol
CACNA1H, CACNA1HB, Cav3.2, ECA6, EIG6, HALD4
Name
(RefSeq) calcium voltage-gated channel subunit alpha1 H
KO
K04855
voltage-dependent calcium channel T type alpha-1H
Organism
hsa
Homo sapiens (human)
Pathway
hsa04010
MAPK signaling pathway
hsa04020
Calcium signaling pathway
hsa04713
Circadian entrainment
hsa04925
Aldosterone synthesis and secretion
hsa04927
Cortisol synthesis and secretion
hsa04929
GnRH secretion
hsa04934
Cushing syndrome
Network
nt06316
Renin-angiotensin-aldosterone signaling
nt06460
Alzheimer disease
nt06461
Huntington disease
nt06462
Spinocerebellar ataxia
nt06463
Parkinson disease
nt06465
Prion disease
nt06466
Pathways of neurodegeneration
nt06528
Calcium signaling
Element
N00302
Mutation-activated CACNA1D/H to angiotensin-aldosterone signaling pathway
N00303
Mutation-activated KCNJ5 to angiotensin-aldosterone signaling pathway
N00304
Mutation-inactivated ATP1A1 to angiotensin-aldosterone signaling pathway
N00967
VGCC-Ca2+ -apoptotic pathway
N01637
Ca2+ entry, Voltage-gated Ca2+ channel
Disease
H00808
Idiopathic generalized epilepsies
H01603
Primary aldosteronism
H02215
Childhood absence epilepsy
Drug target
Apinocaltamide:
D12910
Bepridil (
DG00333
):
D00631
<JP>
D07520
Ethosuximide:
D00539
<JP/US>
Flunarizine (
DG01006
):
D01303
D07971
Lomerizine hydrochloride:
D02633
<JP>
Mesuximide:
D00404
<US>
Mibefradil (
DG00328
):
D05024
D08217
Penfluridol:
D02630
Suvecaltamide (
DG03155
):
D12061
D12062
Ulixacaltamide (
DG03299
):
D12819
D12820
Valproic acid (
DG00849
):
D00304
<US>
D00399
<US>
D00710
<JP/US>
D08667
Zonisamide:
D00538
<JP/US>
Brite
KEGG Orthology (KO) [BR:
hsa00001
]
09150 Organismal Systems
09152 Endocrine system
04929 GnRH secretion
8912 (CACNA1H)
04925 Aldosterone synthesis and secretion
8912 (CACNA1H)
04927 Cortisol synthesis and secretion
8912 (CACNA1H)
09159 Environmental adaptation
04713 Circadian entrainment
8912 (CACNA1H)
09160 Human Diseases
09167 Endocrine and metabolic disease
04934 Cushing syndrome
8912 (CACNA1H)
09180 Brite Hierarchies
09183 Protein families: signaling and cellular processes
04040 Ion channels [BR:
hsa04040
]
8912 (CACNA1H)
Ion channels [BR:
hsa04040
]
Voltage-gated cation channels
Calcium channel, voltage-gated (Cav)
8912 (CACNA1H)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
Ion_trans
PKD_channel
Motif
Other DBs
NCBI-GeneID:
8912
NCBI-ProteinID:
NP_066921
OMIM:
607904
HGNC:
1395
Ensembl:
ENSG00000196557
UniProt:
O95180
B3KQH9
Structure
PDB
PDBj
LinkDB
All DBs
Position
16:1153106..1221768
Genome browser
AA seq
2353 aa
AA seq
DB search
MTEGARAADEVRVPLGAPPPGPAALVGASPESPGAPGREAERGSELGVSPSESPAAERGA
ELGADEEQRVPYPALAATVFFCLGQTTRPRSWCLRLVCNPWFEHVSMLVIMLNCVTLGMF
RPCEDVECGSERCNILEAFDAFIFAFFAVEMVIKMVALGLFGQKCYLGDTWNRLDFFIVV
AGMMEYSLDGHNVSLSAIRTVRVLRPLRAINRVPSMRILVTLLLDTLPMLGNVLLLCFFV
FFIFGIVGVQLWAGLLRNRCFLDSAFVRNNNLTFLRPYYQTEEGEENPFICSSRRDNGMQ
KCSHIPGRRELRMPCTLGWEAYTQPQAEGVGAARNACINWNQYYNVCRSGDSNPHNGAIN
FDNIGYAWIAIFQVITLEGWVDIMYYVMDAHSFYNFIYFILLIIVGSFFMINLCLVVIAT
QFSETKQRESQLMREQRARHLSNDSTLASFSEPGSCYEELLKYVGHIFRKVKRRSLRLYA
RWQSRWRKKVDPSAVQGQGPGHRQRRAGRHTASVHHLVYHHHHHHHHHYHFSHGSPRRPG
PEPGACDTRLVRAGAPPSPPSPGRGPPDAESVHSIYHADCHIEGPQERARVAHAAATAAA
SLRLATGLGTMNYPTILPSGVGSGKGSTSPGPKGKWAGGPPGTGGHGPLSLNSPDPYEKI
PHVVGEHGLGQAPGHLSGLSVPCPLPSPPAGTLTCELKSCPYCTRALEDPEGELSGSESG
DSDGRGVYEFTQDVRHGDRWDPTRPPRATDTPGPGPGSPQRRAQQRAAPGEPGWMGRLWV
TFSGKLRRIVDSKYFSRGIMMAILVNTLSMGVEYHEQPEELTNALEISNIVFTSMFALEM
LLKLLACGPLGYIRNPYNIFDGIIVVISVWEIVGQADGGLSVLRTFRLLRVLKLVRFLPA
LRRQLVVLVKTMDNVATFCTLLMLFIFIFSILGMHLFGCKFSLKTDTGDTVPDRKNFDSL
LWAIVTVFQILTQEDWNVVLYNGMASTSSWAALYFVALMTFGNYVLFNLLVAILVEGFQA
EGDANRSDTDEDKTSVHFEEDFHKLRELQTTELKMCSLAVTPNGHLEGRGSLSPPLIMCT
AATPMPTPKSSPFLDAAPSLPDSRRGSSSSGDPPLGDQKPPASLRSSPCAPWGPSGAWSS
RRSSWSSLGRAPSLKRRGQCGERESLLSGEGKGSTDDEAEDGRAAPGPRATPLRRAESLD
PRPLRPAALPPTKCRDRDGQVVALPSDFFLRIDSHREDAAELDDDSEDSCCLRLHKVLEP
YKPQWCRSREAWALYLFSPQNRFRVSCQKVITHKMFDHVVLVFIFLNCVTIALERPDIDP
GSTERVFLSVSNYIFTAIFVAEMMVKVVALGLLSGEHAYLQSSWNLLDGLLVLVSLVDIV
VAMASAGGAKILGVLRVLRLLRTLRPLRVISRAPGLKLVVETLISSLRPIGNIVLICCAF
FIIFGILGVQLFKGKFYYCEGPDTRNISTKAQCRAAHYRWVRRKYNFDNLGQALMSLFVL
SSKDGWVNIMYDGLDAVGVDQQPVQNHNPWMLLYFISFLLIVSFFVLNMFVGVVVENFHK
CRQHQEAEEARRREEKRLRRLERRRRSTFPSPEAQRRPYYADYSPTRRSIHSLCTSHYLD
LFITFIICVNVITMSMEHYNQPKSLDEALKYCNYVFTIVFVFEAALKLVAFGFRRFFKDR
WNQLDLAIVLLSLMGITLEEIEMSAALPINPTIIRIMRVLRIARVLKLLKMATGMRALLD
TVVQALPQVGNLGLLFMLLFFIYAALGVELFGRLECSEDNPCEGLSRHATFSNFGMAFLT
LFRVSTGDNWNGIMKDTLRECSREDKHCLSYLPALSPVYFVTFVLVAQFVLVNVVVAVLM
KHLEESNKEAREDAELDAEIELEMAQGPGSARRVDADRPPLPQESPGARDAPNLVARKVS
VSRMLSLPNDSYMFRPVVPASAPHPRPLQEVEMETYGAGTPLGSVASVHSPPAESCASLQ
IPLAVSSPARSGEPLHALSPRGTARSPSLSRLLCRQEAVHTDSLEGKIDSPRDTLDPAEP
GEKTPVRPVTQGGSLQSPPRSPRPASVRTRKHTFGQRCVSSRPAAPGGEEAEASDPADEE
VSHITSSACPWQPTAEPHGPEASPVAGGERDLRRLYSVDAQGFLDKPGRADEQWRPSAEL
GSGEPGEAKAWGPEAEPALGARRKKKMSPPCISVEPPAEDEGSARPSAAEGGSTTLRRRT
PSCEATPHRDSLEPTEGSGAGGDPAAKGERWGQASCRAEHLTVPSFAFEPLDLGVPSGDP
FLDGSHSVTPESRASSSGAIVPLEPPESEPPMPVGDPPEKRRGLYLTVPQCPLEKPGSPS
ATPAPGGGADDPV
NT seq
7062 nt
NT seq
+upstream
nt +downstream
nt
atgaccgagggcgcacgggccgccgacgaggtccgggtgcccctgggcgcgccgccccct
ggccctgcggcgttggtgggggcgtccccggagagccccggggcgccgggacgcgaggcg
gagcgggggtccgagctcggcgtgtcaccctccgagagcccggcggccgagcgcggcgcg
gagctgggtgccgacgaggagcagcgcgtcccgtacccggccttggcggccacggtcttc
ttctgcctcggtcagaccacgcggccgcgcagctggtgcctccggctggtctgcaaccca
tggttcgagcacgtgagcatgctggtaatcatgctcaactgcgtgaccctgggcatgttc
cggccctgtgaggacgttgagtgcggctccgagcgctgcaacatcctggaggcctttgac
gccttcattttcgccttttttgcggtggagatggtcatcaagatggtggccttggggctg
ttcgggcagaagtgttacctgggtgacacgtggaacaggctggatttcttcatcgtcgtg
gcgggcatgatggagtactcgttggacggacacaacgtgagcctctcggctatcaggacc
gtgcgggtgctgcggcccctccgcgccatcaaccgcgtgcctagcatgcggatcctggtc
actctgctgctggatacgctgcccatgctcgggaacgtccttctgctgtgcttcttcgtc
ttcttcattttcggcatcgttggcgtccagctctgggctggcctcctgcggaaccgctgc
ttcctggacagtgcctttgtcaggaacaacaacctgaccttcctgcggccgtactaccag
acggaggagggcgaggagaacccgttcatctgctcctcacgccgagacaacggcatgcag
aagtgctcgcacatccccggccgccgcgagctgcgcatgccctgcaccctgggctgggag
gcctacacgcagccgcaggccgagggggtgggcgctgcacgcaacgcctgcatcaactgg
aaccagtactacaacgtgtgccgctcgggtgactccaacccccacaacggtgccatcaac
ttcgacaacatcggctacgcctggattgccatcttccaggtgatcacgctggaaggctgg
gtggacatcatgtactacgtcatggacgcccactcattctacaacttcatctatttcatc
ctgctcatcatcgtgggctccttcttcatgatcaacctgtgcctggtggtgattgccacg
cagttctcggagacgaagcagcgggagagtcagctgatgcgggagcagcgggcacgccac
ctgtccaacgacagcacgctggccagcttctccgagcctggcagctgctacgaagagctg
ctgaagtacgtgggccacatattccgcaaggtcaagcggcgcagcttgcgcctctacgcc
cgctggcagagccgctggcgcaagaaggtggaccccagtgctgtgcaaggccagggtccc
gggcaccgccagcgccgggcaggcaggcacacagcctcggtgcaccacctggtctaccac
caccatcaccaccaccaccaccactaccatttcagccatggcagcccccgcaggcccggc
cccgagccaggcgcctgcgacaccaggctggtccgagctggcgcgcccccctcgccacct
tccccaggccgcggaccccccgacgcagagtctgtgcacagcatctaccatgccgactgc
cacatagaggggccgcaggagagggcccgggtggcacatgccgcagccactgccgctgcc
agcctcagactggccacagggctgggcaccatgaactaccccacgatcctgccctcaggg
gtgggcagcggcaaaggcagcaccagccccggacccaaggggaagtgggccggtggaccg
ccaggcaccggggggcacggcccgttgagcttgaacagccctgatccctacgagaagatc
ccgcatgtggtcggggagcatggactgggccaggcccctggccatctgtcgggcctcagt
gtgccctgccccctgcccagccccccagcgggcacactgacctgtgagctgaagagctgc
ccgtactgcacccgtgccctggaggacccggagggtgagctcagcggctcggaaagtgga
gactcagatggccgtggcgtctatgaattcacgcaggacgtccggcacggtgaccgctgg
gaccccacgcgaccaccccgtgcgacggacacaccaggcccaggcccaggcagcccccag
cggcgggcacagcagagggcagccccgggcgagccaggctggatgggccgcctctgggtt
accttcagcggcaagctgcgccgcatcgtggacagcaagtacttcagccgtggcatcatg
atggccatccttgtcaacacgctgagcatgggcgtggagtaccatgagcagcccgaggag
ctgactaatgctctggagatcagcaacatcgtgttcaccagcatgtttgccctggagatg
ctgctgaagctgctggcctgcggccctctgggctacatccggaacccgtacaacatcttc
gacggcatcatcgtggtcatcagcgtctgggagatcgtggggcaggcggacggtggcttg
tctgtgctgcgcaccttccggctgctgcgtgtgctgaagctggtgcgctttctgccagcc
ctgcggcgccagctcgtggtgctggtgaagaccatggacaacgtggctaccttctgcacg
ctgctcatgctcttcattttcatcttcagcatcctgggcatgcaccttttcggctgcaag
ttcagcctgaagacagacaccggagacaccgtgcctgacaggaagaacttcgactccctg
ctgtgggccatcgtcaccgtgttccagatcctgacccaggaggactggaacgtggtcctg
tacaacggcatggcctccacctcctcctgggccgccctctacttcgtggccctcatgacc
ttcggcaactatgtgctcttcaacctgctggtggccatcctcgtggagggcttccaggcg
gagggcgatgccaacagatccgacacggacgaggacaagacgtcggtccacttcgaggag
gacttccacaagctcagagaactccagaccacagagctgaagatgtgttccctggccgtg
acccccaacgggcacctggagggacgaggcagcctgtcccctcccctcatcatgtgcaca
gctgccacgcccatgcctacccccaagagctcaccattcctggatgcagcccccagcctc
ccagactctcggcgtggcagcagcagctccggggacccgccactgggagaccagaagcct
ccggccagcctccgaagttctccctgtgccccctggggccccagtggcgcctggagcagc
cggcgctccagctggagcagcctgggccgtgcccccagcctcaagcgccgcggccagtgt
ggggaacgtgagtccctgctgtctggcgagggcaagggcagcaccgacgacgaagctgag
gacggcagggccgcgcccgggccccgtgccaccccactgcggcgggccgagtccctggac
ccacggcccctgcggccggccgccctcccgcctaccaagtgccgcgatcgcgacgggcag
gtggtggccctgcccagcgacttcttcctgcgcatcgacagccaccgtgaggatgcagcc
gagcttgacgacgactcggaggacagctgctgcctccgcctgcataaagtgctggagccc
tacaagccccagtggtgccggagccgcgaggcctgggccctctacctcttctccccacag
aaccggttccgcgtctcctgccagaaggtcatcacacacaagatgtttgatcacgtggtc
ctcgtcttcatcttcctcaactgcgtcaccatcgccctggagaggcctgacattgatccc
ggcagcaccgagcgggtcttcctcagcgtctccaattacatcttcacggccatcttcgtg
gcggagatgatggtgaaggtggtggccctggggctgctgtccggcgagcacgcctacctg
cagagcagctggaacctgctggatgggctgctggtgctggtgtccctggtggacattgtc
gtggccatggcctcggctggtggcgccaagatcctgggtgttctgcgcgtgctgcgtctg
ctgcggaccctgcggcctctgagggtcatcagccgggccccgggcctcaagctggtggtg
gagacgctgatatcatcactcaggcccattgggaacatcgtcctcatctgctgcgccttc
ttcatcatttttggcattttgggtgtgcagctcttcaaagggaagttctactactgcgag
ggccccgacaccaggaacatctccaccaaggcacagtgccgggccgcccactaccgctgg
gtgcgacgcaagtacaacttcgacaacctgggccaggccctgatgtcgctgttcgtgctg
tcatccaaggatggatgggtgaacatcatgtacgacgggctggatgccgtgggtgtcgac
cagcagcctgtgcagaaccacaacccctggatgctgctgtacttcatctccttcctgctc
atcgtcagcttcttcgtgctcaacatgttcgtgggcgtcgtggtcgagaacttccacaag
tgccggcagcaccaggaggcggaggaggcgcggcggcgagaggagaagcggctgcggcgc
ctagagaggaggcgcaggagcactttccccagcccagaggcccagcgccggccctactat
gccgactactcgcccacgcgccgctccattcactcgctgtgcaccagccactatctcgac
ctcttcatcaccttcatcatctgtgtcaacgtcatcaccatgtccatggagcactataac
caacccaagtcgctggacgaggccctcaagtactgcaactacgtcttcaccatcgtgttt
gtcttcgaggctgcactgaagctggtagcatttgggttccgtcggttcttcaaggacagg
tggaaccagctggacctggccatcgtgctgctgtcactcatgggcatcacgctggaggag
atagagatgagcgccgcgctgcccatcaaccccaccatcatccgcatcatgcgcgtgctt
cgcattgcccgtgtgctgaagctgctgaagatggctacgggcatgcgcgccctgctggac
actgtggtgcaagctctcccccaggtggggaacctgggccttcttttcatgctcctgttt
tttatctatgctgcgctgggagtggagctgttcgggaggctggagtgcagtgaagacaac
ccctgcgagggcctgagcaggcacgccaccttcagcaacttcggcatggccttcctcacg
ctgttccgcgtgtccacgggggacaactggaacgggatcatgaaggacacgctgcgcgag
tgctcccgtgaggacaagcactgcctgagctacctgccggccctgtcgcccgtctacttc
gtgaccttcgtgctggtggcccagttcgtgctggtgaacgtggtggtggccgtgctcatg
aagcacctggaggagagcaacaaggaggcacgggaggatgcggagctggacgccgagatc
gagctggagatggcgcagggccccgggagtgcacgccgggtggacgcggacaggcctccc
ttgccccaggagagtccgggcgccagggacgccccaaacctggttgcacgcaaggtgtcc
gtgtccaggatgctctcgctgcccaacgacagctacatgttcaggcccgtggtgcctgcc
tcggcgccccacccccgcccgctgcaggaggtggagatggagacctatggggccggcacc
cccttgggctccgttgcctctgtgcactctccgcccgcagagtcctgtgcctccctccag
atcccattggctgtgtcgtccccagccaggagcggcgagcccctccacgccctgtcccct
cggggcacagcccgctcccccagtctcagccggctgctctgcagacaggaggctgtgcac
accgattccttggaagggaagattgacagccctagggacaccctggatcctgcagagcct
ggtgagaaaaccccggtgaggccggtgacccaggggggctccctgcagtccccaccacgc
tccccacggcccgccagcgtccgcactcgtaagcataccttcggacagcgctgcgtctcc
agccggccggcggccccaggcggagaggaggccgaggcctcggacccagccgacgaggag
gtcagccacatcaccagctccgcctgcccctggcagcccacagccgagccccatggcccc
gaagcctctccggtggccggcggcgagcgggacctgcgcaggctctacagcgtggatgct
cagggcttcctggacaagccgggccgggcagacgagcagtggcggccctcggcggagctg
ggcagcggggagcctggggaggcgaaggcctggggccctgaggccgagcccgctctgggt
gcgcgcagaaagaagaagatgagccccccctgcatctcggtggaaccccctgcggaggac
gagggctctgcgcggccctccgcggcagagggcggcagcaccacactgaggcgcaggacc
ccgtcctgtgaggccacgcctcacagggactccctggagcccacagagggctcaggcgcc
gggggggaccctgcagccaagggggagcgctggggccaggcctcctgccgggctgagcac
ctgaccgtccccagctttgcctttgagccgctggacctcggggtccccagtggagaccct
ttcttggacggtagccacagtgtgaccccagaatccagagcttcctcttcaggggccata
gtgcccctggaacccccagaatcagagcctcccatgcccgtcggtgaccccccagagaag
aggcgggggctgtacctcacagtcccccagtgtcctctggagaaaccagggtccccctca
gccacccctgccccagggggtggtgcagatgaccccgtgtag
DBGET
integrated database retrieval system
