KEGG   Homo sapiens (human): 776
Entry
776               CDS       T01001                                 
Symbol
CACNA1D, CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA, SANDD
Name
(RefSeq) calcium voltage-gated channel subunit alpha1 D
  KO
K04851  voltage-dependent calcium channel L type alpha-1D
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04218  Cellular senescence
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04530  Tight junction
hsa04713  Circadian entrainment
hsa04723  Retrograde endocannabinoid signaling
hsa04724  Glutamatergic synapse
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04728  Dopaminergic synapse
hsa04911  Insulin secretion
hsa04912  GnRH signaling pathway
hsa04921  Oxytocin signaling pathway
hsa04924  Renin secretion
hsa04925  Aldosterone synthesis and secretion
hsa04927  Cortisol synthesis and secretion
hsa04929  GnRH secretion
hsa04930  Type II diabetes mellitus
hsa04934  Cushing syndrome
hsa04935  Growth hormone synthesis, secretion and action
hsa04973  Carbohydrate digestion and absorption
hsa05010  Alzheimer disease
hsa05020  Prion disease
hsa05022  Pathways of neurodegeneration - multiple diseases
hsa05031  Amphetamine addiction
hsa05207  Chemical carcinogenesis - receptor activation
hsa05410  Hypertrophic cardiomyopathy
hsa05412  Arrhythmogenic right ventricular cardiomyopathy
hsa05414  Dilated cardiomyopathy
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
N01004  Mutation-caused aberrant Abeta to VGCC-Ca2+ -apoptotic pathway
N01201  Scrapie conformation PrPSc to VGCC-Ca2+ -apoptotic pathway
N01637  Ca2+ entry, Voltage-gated Ca2+ channel
Disease
H01603  Primary aldosteronism
H02636  Sinoatrial node dysfunction and deafness
Drug target
Amlodipine (DG00322): D00615<JP/US> D02914 D07450 D11881<US>
Aranidipine: D01562
Azelnidipine: D01145<JP>
Barnidipine (DG00325): D01104<JP> D07494
Belfosdil: D03067
Benidipine (DG00327): D02045<JP> D07509
Bepridil (DG00333): D00631<JP> D07520
Bevantolol: D01369<JP>
Cilnidipine: D01173<JP>
Clentiazem maleate: D03536
Clevidipine: D08892<US>
Darodipine: D03655
Diltiazem (DG00331): D00616<JP/US> D03830 D07845
Dronedarone (DG00207): D02537 D03914<US>
Efonidipine (DG01382): D01604<JP> D07886
Etripamil: D10932
Felodipine: D00319<JP/US>
Fendiline (DG00332): D07185 D07943
Flordipine: D04193
Fostedil: D04260
Gallopamil (DG00330): D01969 D08009
Isradipine: D00349<US>
Kirenidipine hydrochloride: D09789
Lacidipine: D04657
Lemildipine: D01151
Lercanidipine (DG00326): D01849 D08111
Levamlodipine (DG03091): D08941 D11723<US>
Levosemotiadil fumarate: D09833
Manidipine (DG00324): D01553<JP> D08155
Mibefradil (DG00328): D05024 D08217
Monatepil maleate: D01171
Nicardipine (DG00323): D00617<JP/US> D08270
Nifedipine: D00437<JP/US>
Nilvadipine: D01908<JP>
Nimodipine: D00438<US>
Nisoldipine: D00618<US>
Nitrendipine: D00629<JP>
Paramethadione: D00495
Perhexiline (DG00334): D05442 D08340
Propiverine (DG00479): D01007<JP> D08441
Tamolarizine hydrochloride: D11102
Tiapamil hydrochloride: D06129
Topiramate: D00537<JP/US>
Vatanidipine hydrochloride: D01933
Verapamil (DG00329): D00619<JP/US> D02356
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04024 cAMP signaling pathway
    776 (CACNA1D)
   04022 cGMP-PKG signaling pathway
    776 (CACNA1D)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    776 (CACNA1D)
   04929 GnRH secretion
    776 (CACNA1D)
   04921 Oxytocin signaling pathway
    776 (CACNA1D)
   04935 Growth hormone synthesis, secretion and action
    776 (CACNA1D)
   04924 Renin secretion
    776 (CACNA1D)
   04925 Aldosterone synthesis and secretion
    776 (CACNA1D)
   04927 Cortisol synthesis and secretion
    776 (CACNA1D)
  09154 Digestive system
   04973 Carbohydrate digestion and absorption
    776 (CACNA1D)
  09156 Nervous system
   04724 Glutamatergic synapse
    776 (CACNA1D)
   04727 GABAergic synapse
    776 (CACNA1D)
   04725 Cholinergic synapse
    776 (CACNA1D)
   04728 Dopaminergic synapse
    776 (CACNA1D)
   04726 Serotonergic synapse
    776 (CACNA1D)
   04723 Retrograde endocannabinoid signaling
    776 (CACNA1D)
  09159 Environmental adaptation
   04713 Circadian entrainment
    776 (CACNA1D)
 09160 Human Diseases
  09161 Cancer: overview
   05207 Chemical carcinogenesis - receptor activation
    776 (CACNA1D)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    776 (CACNA1D)
   05020 Prion disease
    776 (CACNA1D)
   05022 Pathways of neurodegeneration - multiple diseases
    776 (CACNA1D)
  09165 Substance dependence
   05031 Amphetamine addiction
    776 (CACNA1D)
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    776 (CACNA1D)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    776 (CACNA1D)
   05414 Dilated cardiomyopathy
    776 (CACNA1D)
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    776 (CACNA1D)
   04934 Cushing syndrome
    776 (CACNA1D)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    776 (CACNA1D)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   776 (CACNA1D)
SSDB
Motif
Pfam: Ion_trans CAC1F_C Ca_chan_IQ GPHH PKD_channel
Other DBs
NCBI-GeneID: 776
NCBI-ProteinID: NP_001122312
OMIM: 114206
HGNC: 1391
Ensembl: ENSG00000157388
UniProt: Q01668 Q59GD8
Structure
LinkDB
Position
3:53494611..53813733
AA seq 2161 aa
MMMMMMMKKMQHQRQQQADHANEANYARGTRLPLSGEGPTSQPNSSKQTVLSWQAAIDAA
RQAKAAQTMSTSAPPPVGSLSQRKRQQYAKSKKQGNSSNSRPARALFCLSLNNPIRRACI
SIVEWKPFDIFILLAIFANCVALAIYIPFPEDDSNSTNHNLEKVEYAFLIIFTVETFLKI
IAYGLLLHPNAYVRNGWNLLDFVIVIVGLFSVILEQLTKETEGGNHSSGKSGGFDVKALR
AFRVLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFIGKMHKT
CFFADSDIVAEEDPAPCAFSGNGRQCTANGTECRSGWVGPNGGITNFDNFAFAMLTVFQC
ITMEGWTDVLYWMNDAMGFELPWVYFVSLVIFGSFFVLNLVLGVLSGEFSKEREKAKARG
DFQKLREKQQLEEDLKGYLDWITQAEDIDPENEEEGGEEGKRNTSMPTSETESVNTENVS
GEGENRGCCGSLCQAISKSKLSRRWRRWNRFNRRRCRAAVKSVTFYWLVIVLVFLNTLTI
SSEHYNQPDWLTQIQDIANKVLLALFTCEMLVKMYSLGLQAYFVSLFNRFDCFVVCGGIT
ETILVELEIMSPLGISVFRCVRLLRIFKVTRHWTSLSNLVASLLNSMKSIASLLLLLFLF
IIIFSLLGMQLFGGKFNFDETQTKRSTFDNFPQALLTVFQILTGEDWNAVMYDGIMAYGG
PSSSGMIVCIYFIILFICGNYILLNVFLAIAVDNLADAESLNTAQKEEAEEKERKKIARK
ESLENKKNNKPEVNQIANSDNKVTIDDYREEDEDKDPYPPCDVPVGEEEEEEEEDEPEVP
AGPRPRRISELNMKEKIAPIPEGSAFFILSKTNPIRVGCHKLINHHIFTNLILVFIMLSS
AALAAEDPIRSHSFRNTILGYFDYAFTAIFTVEILLKMTTFGAFLHKGAFCRNYFNLLDM
LVVGVSLVSFGIQSSAISVVKILRVLRVLRPLRAINRAKGLKHVVQCVFVAIRTIGNIMI
VTTLLQFMFACIGVQLFKGKFYRCTDEAKSNPEECRGLFILYKDGDVDSPVVRERIWQNS
DFNFDNVLSAMMALFTVSTFEGWPALLYKAIDSNGENIGPIYNHRVEISIFFIIYIIIVA
FFMMNIFVGFVIVTFQEQGEKEYKNCELDKNQRQCVEYALKARPLRRYIPKNPYQYKFWY
VVNSSPFEYMMFVLIMLNTLCLAMQHYEQSKMFNDAMDILNMVFTGVFTVEMVLKVIAFK
PKGYFSDAWNTFDSLIVIGSIIDVALSEADPTESENVPVPTATPGNSEESNRISITFFRL
FRVMRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIAMLFFIYAVIGMQMFGKVAMRDN
NQINRNNNFQTFPQAVLLLFRCATGEAWQEIMLACLPGKLCDPESDYNPGEEYTCGSNFA
IVYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRIWSEYDPEAKGRI
KHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVAMNMPLNSDGTVMFNATLFALVRTALKI
KTEGNLEQANEELRAVIKKIWKKTSMKLLDQVVPPAGDDEVTVGKFYATFLIQDYFRKFK
KRKEQGLVGKYPAKNTTIALQAGLRTLHDIGPEIRRAISCDLQDDEPEETKREEEDDVFK
RNGALLGNHVNHVNSDRRDSLQQTNTTHRPLHVQRPSIPPASDTEKPLFPPAGNSVCHNH
HNHNSIGKQVPTSTNANLNNANMSKAAHGKRPSIGNLEHVSENGHHSSHKHDREPQRRSS
VKRTRYYETYIRSDSGDEQLPTICREDPEIHGYFRDPHCLGEQEYFSSEECYEDDSSPTW
SRQNYGYYSRYPGRNIDSERPRGYHHPQGFLEDDDSPVCYDSRRSPRRRLLPPTPASHRR
SSFNFECLRRQSSQEEVPSSPIFPHRTALPLHLMQQQIMAVAGLDSSKAQKYSPSHSTRS
WATPPATPPYRDWTPCYTPLIQVEQSEALDQVNGSLPSLHRSSWYTDEPDISYRTFTPAS
LTVPSSFRNKNSDKQRSADSLVEAVLISEGLGRYARDPKFVSATKHEIADACDLTIDEME
SAASTLLNGNVRPRANGDVGPLSHRQDYELQDFGPGYSDEEPDPGRDEEDLADEMICITT
L
NT seq 6486 nt   +upstreamnt  +downstreamnt
atgatgatgatgatgatgatgaaaaaaatgcagcatcaacggcagcagcaagcggaccac
gcgaacgaggcaaactatgcaagaggcaccagacttcctctttctggtgaaggaccaact
tctcagccgaatagctccaagcaaactgtcctgtcttggcaagctgcaatcgatgctgct
agacaggccaaggctgcccaaactatgagcacctctgcacccccacctgtaggatctctc
tcccaaagaaaacgtcagcaatacgccaagagcaaaaaacagggtaactcgtccaacagc
cgacctgcccgcgcccttttctgtttatcactcaataaccccatccgaagagcctgcatt
agtatagtggaatggaaaccatttgacatatttatattattggctatttttgccaattgt
gtggccttagctatttacatcccattccctgaagatgattctaattcaacaaatcataac
ttggaaaaagtagaatatgccttcctgattatttttacagtcgagacatttttgaagatt
atagcgtatggattattgctacatcctaatgcttatgttaggaatggatggaatttactg
gattttgttatagtaatagtaggattgtttagtgtaattttggaacaattaaccaaagaa
acagaaggcgggaaccactcaagcggcaaatctggaggctttgatgtcaaagccctccgt
gcctttcgagtgttgcgaccacttcgactagtgtcaggagtgcccagtttacaagttgtc
ctgaactccattataaaagccatggttcccctccttcacatagcccttttggtattattt
gtaatcataatctatgctattataggattggaactttttattggaaaaatgcacaaaaca
tgtttttttgctgactcagatatcgtagctgaagaggacccagctccatgtgcgttctca
gggaatggacgccagtgtactgccaatggcacggaatgtaggagtggctgggttggcccg
aacggaggcatcaccaactttgataactttgcctttgccatgcttactgtgtttcagtgc
atcaccatggagggctggacagatgtgctctactggatgaatgatgctatgggatttgaa
ttgccctgggtgtattttgtcagtctcgtcatctttgggtcatttttcgtactaaatctt
gtacttggtgtattgagcggagaattctcaaaggaaagagagaaggcaaaagcacgggga
gatttccagaagctccgggagaagcagcagctggaggaggatctaaagggctacttggat
tggatcacccaagctgaggacatcgatccggagaatgaggaagaaggaggagaggaaggc
aaacgaaatactagcatgcccaccagcgagactgagtctgtgaacacagagaacgtcagc
ggtgaaggcgagaaccgaggctgctgtggaagtctctgtcaagccatctcaaaatccaaa
ctcagccgacgctggcgtcgctggaaccgattcaatcgcagaagatgtagggccgccgtg
aagtctgtcacgttttactggctggttatcgtcctggtgtttctgaacaccttaaccatt
tcctctgagcactacaatcagccagattggttgacacagattcaagatattgccaacaaa
gtcctcttggctctgttcacctgcgagatgctggtaaaaatgtacagcttgggcctccaa
gcatatttcgtctctcttttcaaccggtttgattgcttcgtggtgtgtggtggaatcact
gagacgatcttggtggaactggaaatcatgtctcccctggggatctctgtgtttcggtgt
gtgcgcctcttaagaatcttcaaagtgaccaggcactggacttccctgagcaacttagtg
gcatccttattaaactccatgaagtccatcgcttcgctgttgcttctgctttttctcttc
attatcatcttttccttgcttgggatgcagctgtttggcggcaagtttaattttgatgaa
acgcaaaccaagcggagcacctttgacaatttccctcaagcacttctcacagtgttccag
atcctgacaggcgaagactggaatgctgtgatgtacgatggcatcatggcttacgggggc
ccatcctcttcaggaatgatcgtctgcatctacttcatcatcctcttcatttgtggtaac
tatattctactgaatgtcttcttggccatcgctgtagacaatttggctgatgctgaaagt
ctgaacactgctcagaaagaagaagcggaagaaaaggagaggaaaaagattgccagaaaa
gagagcctagaaaataaaaagaacaacaaaccagaagtcaaccagatagccaacagtgac
aacaaggttacaattgatgactatagagaagaggatgaagacaaggacccctatccgcct
tgcgatgtgccagtaggggaagaggaagaggaagaggaggaggatgaacctgaggttcct
gccggaccccgtcctcgaaggatctcggagttgaacatgaaggaaaaaattgcccccatc
cctgaagggagcgctttcttcattcttagcaagaccaacccgatccgcgtaggctgccac
aagctcatcaaccaccacatcttcaccaacctcatccttgtcttcatcatgctgagcagc
gctgccctggccgcagaggaccccatccgcagccactccttccggaacacgatactgggt
tactttgactatgccttcacagccatctttactgttgagatcctgttgaagatgacaact
tttggagctttcctccacaaaggggccttctgcaggaactacttcaatttgctggatatg
ctggtggttggggtgtctctggtgtcatttgggattcaatccagtgccatctccgttgtg
aagattctgagggtcttaagggtcctgcgtcccctcagggccatcaacagagcaaaagga
cttaagcacgtggtccagtgcgtcttcgtggccatccggaccatcggcaacatcatgatc
gtcaccaccctcctgcagttcatgtttgcctgtatcggggtccagttgttcaaggggaag
ttctatcgctgtacggatgaagccaaaagtaaccctgaagaatgcaggggacttttcatc
ctctacaaggatggggatgttgacagtcctgtggtccgtgaacggatctggcaaaacagt
gatttcaacttcgacaacgtcctctctgctatgatggcgctcttcacagtctccacgttt
gagggctggcctgcgttgctgtataaagccatcgactcgaatggagagaacatcggccca
atctacaaccaccgcgtggagatctccatcttcttcatcatctacatcatcattgtagct
ttcttcatgatgaacatctttgtgggctttgtcatcgttacatttcaggaacaaggagaa
aaagagtataagaactgtgagctggacaaaaatcagcgtcagtgtgttgaatacgccttg
aaagcacgtcccttgcggagatacatccccaaaaacccctaccagtacaagttctggtac
gtggtgaactcttcgcctttcgaatacatgatgtttgtcctcatcatgctcaacacactc
tgcttggccatgcagcactacgagcagtccaagatgttcaatgatgccatggacattctg
aacatggtcttcaccggggtgttcaccgtcgagatggttttgaaagtcatcgcatttaag
cctaaggggtattttagtgacgcctggaacacgtttgactccctcatcgtaatcggcagc
attatagacgtggccctcagcgaagcagacccaactgaaagtgaaaatgtccctgtccca
actgctacacctgggaactctgaagagagcaatagaatctccatcacctttttccgtctt
ttccgagtgatgcgattggtgaagcttctcagcaggggggaaggcatccggacattgctg
tggacttttattaagtcctttcaggcgctcccgtatgtggccctcctcatagccatgctg
ttcttcatctatgcggtcattggcatgcagatgtttgggaaagttgccatgagagataac
aaccagatcaataggaacaataacttccagacgtttccccaggcggtgctgctgctcttc
aggtgtgcaacaggtgaggcctggcaggagatcatgctggcctgtctcccagggaagctc
tgtgaccctgagtcagattacaaccccggggaggagtatacatgtgggagcaactttgcc
attgtctatttcatcagtttttacatgctctgtgcatttctgatcatcaatctgtttgtg
gctgtcatcatggataatttcgactatctgacccgggactggtctattttggggcctcac
catttagatgaattcaaaagaatatggtcagaatatgaccctgaggcaaagggaaggata
aaacaccttgatgtggtcactctgcttcgacgcatccagcctcccctggggtttgggaag
ttatgtccacacagggtagcgtgcaagagattagttgccatgaacatgcctctcaacagt
gacgggacagtcatgtttaatgcaaccctgtttgctttggttcgaacggctcttaagatc
aagaccgaagggaacctggagcaagctaatgaagaacttcgggctgtgataaagaaaatt
tggaagaaaaccagcatgaaattacttgaccaagttgtccctccagctggtgatgatgag
gtaaccgtggggaagttctatgccactttcctgatacaggactactttaggaaattcaag
aaacggaaagaacaaggactggtgggaaagtaccctgcgaagaacaccacaattgcccta
caggcgggattaaggacactgcatgacattgggccagaaatccggcgtgctatatcgtgt
gatttgcaagatgacgagcctgaggaaacaaaacgagaagaagaagatgatgtgttcaaa
agaaatggtgccctgcttggaaaccatgtcaatcatgttaatagtgataggagagattcc
cttcagcagaccaataccacccaccgtcccctgcatgtccaaaggccttcaattccacct
gcaagtgatactgagaaaccgctgtttcctccagcaggaaattcggtgtgtcataaccat
cataaccataattccataggaaagcaagttcccacctcaacaaatgccaatctcaataat
gccaatatgtccaaagctgcccatggaaagcggcccagcattgggaaccttgagcatgtg
tctgaaaatgggcatcattcttcccacaagcatgaccgggagcctcagagaaggtccagt
gtgaaaagaacccgctattatgaaacttacattaggtccgactcaggagatgaacagctc
ccaactatttgccgggaagacccagagatacatggctatttcagggacccccactgcttg
ggggagcaggagtatttcagtagtgaggaatgctacgaggatgacagctcgcccacctgg
agcaggcaaaactatggctactacagcagatacccaggcagaaacatcgactctgagagg
ccccgaggctaccatcatccccaaggattcttggaggacgatgactcgcccgtttgctat
gattcacggagatctccaaggagacgcctactacctcccaccccagcatcccaccggaga
tcctccttcaactttgagtgcctgcgccggcagagcagccaggaagaggtcccgtcgtct
cccatcttcccccatcgcacggccctgcctctgcatctaatgcagcaacagatcatggca
gttgccggcctagattcaagtaaagcccagaagtactcaccgagtcactcgacccggtcg
tgggccacccctccagcaacccctccctaccgggactggacaccgtgctacacccccctg
atccaagtggagcagtcagaggccctggaccaggtgaacggcagcctgccgtccctgcac
cgcagctcctggtacacagacgagcccgacatctcctaccggactttcacaccagccagc
ctgactgtccccagcagcttccggaacaaaaacagcgacaagcagaggagtgcggacagc
ttggtggaggcagtcctgatatccgaaggcttgggacgctatgcaagggacccaaaattt
gtgtcagcaacaaaacacgaaatcgctgatgcctgtgacctcaccatcgacgagatggag
agtgcagccagcaccctgcttaatgggaacgtgcgtccccgagccaacggggatgtgggc
cccctctcacaccggcaggactatgagctacaggactttggtcctggctacagcgacgaa
gagccagaccctgggagggatgaggaggacctggcggatgaaatgatatgcatcaccacc
ttgtag

KEGG   Homo sapiens (human): 8912
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)
SSDB
Motif
Pfam: Ion_trans PKD_channel
Other DBs
NCBI-GeneID: 8912
NCBI-ProteinID: NP_066921
OMIM: 607904
HGNC: 1395
Ensembl: ENSG00000196557
UniProt: O95180 B3KQH9
Structure
LinkDB
Position
16:1153106..1221768
AA seq 2353 aa
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   +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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