KEGG   Homo sapiens (human): 776Help
Entry
776               CDS       T01001                                 

Gene name
CACNA1D, CACH3, CACN4, CACNL1A2, CCHL1A2, Cav1.3, PASNA, SANDD
Definition
(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
hsa04930  Type II diabetes mellitus
hsa04934  Cushing syndrome
hsa04973  Carbohydrate digestion and absorption
hsa05010  Alzheimer disease
hsa05031  Amphetamine addiction
hsa05410  Hypertrophic cardiomyopathy (HCM)
hsa05412  Arrhythmogenic right ventricular cardiomyopathy (ARVC)
hsa05414  Dilated cardiomyopathy (DCM)
Network
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
H01603  Primary aldosteronism
Drug target
Amlodipine (DG00322): D00615 D02914 D07450
Aranidipine: D01562
Azelnidipine: D01145
Barnidipine (DG00325): D01104 D07494
Belfosdil: D03067
Benidipine (DG00327): D02045 D07509
Bepridil (DG00333): D00631 D07520
Bevantolol: D01369
Cilnidipine: D01173
Clentiazem maleate: D03536
Clevidipine: D08892
Darodipine: D03655
Diltiazem (DG00331): D00616 D03830 D07845
Dronedarone (DG00207): D02537 D03914
Efonidipine (DG01382): D01604 D07886
Etripamil: D10932
Felodipine: D00319
Fendiline (DG00332): D07185 D07943
Flordipine: D04193
Fostedil: D04260
Gallopamil (DG00330): D01969 D08009
Isradipine: D00349
Kirenidipine hydrochloride: D09789
Lacidipine: D04657
Lemildipine: D01151
Lercanidipine (DG00326): D01849 D08111
Levosemotiadil fumarate: D09833
Manidipine (DG00324): D01553 D08155
Mibefradil (DG00328): D05024 D08217
Monatepil maleate: D01171
Nicardipine (DG00323): D00617 D08270
Nifedipine: D00437
Nilvadipine: D01908
Nimodipine: D00438
Nisoldipine: D00618
Nitrendipine: D00629
Paramethadione: D00495
Perhexiline (DG00334): D05442 D08340
Propiverine (DG00479): D01007 D08441
Tamolarizine hydrochloride: D11102
Tiapamil hydrochloride: D06129
Topiramate: D00537
Vatanidipine hydrochloride: D01933
Verapamil (DG00329): D00619 D02356
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    776 (CACNA1D)
   04020 Calcium signaling pathway
    776 (CACNA1D)
   04024 cAMP signaling pathway
    776 (CACNA1D)
   04022 cGMP-PKG signaling pathway
    776 (CACNA1D)
 09140 Cellular Processes
  09143 Cell growth and death
   04218 Cellular senescence
    776 (CACNA1D)
  09144 Cellular community - eukaryotes
   04530 Tight junction
    776 (CACNA1D)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    776 (CACNA1D)
   04912 GnRH signaling pathway
    776 (CACNA1D)
   04921 Oxytocin signaling pathway
    776 (CACNA1D)
   04924 Renin secretion
    776 (CACNA1D)
   04925 Aldosterone synthesis and secretion
    776 (CACNA1D)
   04927 Cortisol synthesis and secretion
    776 (CACNA1D)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    776 (CACNA1D)
   04261 Adrenergic signaling in cardiomyocytes
    776 (CACNA1D)
   04270 Vascular smooth muscle contraction
    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
  09164 Neurodegenerative diseases
   05010 Alzheimer disease
    776 (CACNA1D)
  09165 Substance dependence
   05031 Amphetamine addiction
    776 (CACNA1D)
  09166 Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    776 (CACNA1D)
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    776 (CACNA1D)
   05414 Dilated cardiomyopathy (DCM)
    776 (CACNA1D)
  09167 Endocrine and metabolic diseases
   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)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Ion_trans CAC1F_C Ca_chan_IQ GPHH PKD_channel Rer1
Motif
Other DBs
NCBI-GeneID: 776
NCBI-ProteinID: NP_001122312
OMIM: 114206
HGNC: 1391
Ensembl: ENSG00000157388
Vega: OTTHUMG00000158278
Pharos: Q01668(Tclin)
UniProt: Q01668 Q59GD8
Position
3p21.1
AA seq 2161 aa AA seqDB search
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 NT seq  +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

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