KEGG   Homo sapiens (human): 8912Help
Entry
8912              CDS       T01001                                 

Gene name
CACNA1H, CACNA1HB, Cav3.2, ECA6, EIG6, HALD4
Definition
(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  Angiotensin-aldosterone 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
Disease
H00808  Idiopathic generalized epilepsies
H01603  Primary aldosteronism
H02215  Childhood absence epilepsy
Drug target
Bepridil (DG00333): D00631 D07520
Ethosuximide: D00539
Flunarizine (DG01006): D01303 D07971
Lomerizine hydrochloride: D02633
Mesuximide: D00404
Mibefradil (DG00328): D05024 D08217
Penfluridol: D02630
Valproic acid (DG00849): D00304 D00399 D00710 D08667
Zonisamide: D00538
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    8912 (CACNA1H)
   04020 Calcium signaling pathway
    8912 (CACNA1H)
 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 OrthologParalogGFIT
Motif
Pfam: Ion_trans PKD_channel
Motif
Other DBs
NCBI-GeneID: 8912
NCBI-ProteinID: NP_066921
OMIM: 607904
HGNC: 1395
Ensembl: ENSG00000196557
Vega: OTTHUMG00000172992
Pharos: O95180(Tclin)
UniProt: O95180 B3KQH9
LinkDB All DBs
Position
16p13.3
AA seq 2353 aa AA seqDB 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  +upstreamnt  +downstreamnt
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

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