KEGG   Homo sapiens (human): 775
Entry
775               CDS       T01001                                 
Symbol
CACNA1C, CACH2, CACN2, CACNA1C-IT2, CACNL1A1, CCHL1A1, CaV1.2, LQT8, NEDHLSS, TS, TS. LQT8
Name
(RefSeq) voltage-dependent L-type calcium channel subunit alpha-1C isoform 18
  KO
K04850  voltage-dependent calcium channel L type alpha-1C
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04020  Calcium signaling pathway
hsa04022  cGMP-PKG signaling pathway
hsa04024  cAMP signaling pathway
hsa04260  Cardiac muscle contraction
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04713  Circadian entrainment
hsa04720  Long-term potentiation
hsa04723  Retrograde endocannabinoid signaling
hsa04724  Glutamatergic synapse
hsa04725  Cholinergic synapse
hsa04726  Serotonergic synapse
hsa04727  GABAergic synapse
hsa04728  Dopaminergic synapse
hsa04742  Taste transduction
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
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
nt06460  Alzheimer disease
nt06461  Huntington disease
nt06462  Spinocerebellar ataxia
nt06463  Parkinson disease
nt06465  Prion disease
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
  Element
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
N01639  Cardiac-type VGCC-RYR signaling
N01649  Ca2+/CAM-VGCC/RYR signaling pathway
Disease
H00720  Long QT syndrome
H00728  Brugada syndrome
H02856  Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
Drug target
Amlodipine (DG00322): D00615<JP/US> D02914 D07450<US> 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<US>
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
   04010 MAPK signaling pathway
    775 (CACNA1C)
   04020 Calcium signaling pathway
    775 (CACNA1C)
   04024 cAMP signaling pathway
    775 (CACNA1C)
   04022 cGMP-PKG signaling pathway
    775 (CACNA1C)
 09150 Organismal Systems
  09152 Endocrine system
   04911 Insulin secretion
    775 (CACNA1C)
   04929 GnRH secretion
    775 (CACNA1C)
   04912 GnRH signaling pathway
    775 (CACNA1C)
   04921 Oxytocin signaling pathway
    775 (CACNA1C)
   04935 Growth hormone synthesis, secretion and action
    775 (CACNA1C)
   04924 Renin secretion
    775 (CACNA1C)
   04925 Aldosterone synthesis and secretion
    775 (CACNA1C)
   04927 Cortisol synthesis and secretion
    775 (CACNA1C)
  09153 Circulatory system
   04260 Cardiac muscle contraction
    775 (CACNA1C)
   04261 Adrenergic signaling in cardiomyocytes
    775 (CACNA1C)
   04270 Vascular smooth muscle contraction
    775 (CACNA1C)
  09156 Nervous system
   04724 Glutamatergic synapse
    775 (CACNA1C)
   04727 GABAergic synapse
    775 (CACNA1C)
   04725 Cholinergic synapse
    775 (CACNA1C)
   04728 Dopaminergic synapse
    775 (CACNA1C)
   04726 Serotonergic synapse
    775 (CACNA1C)
   04720 Long-term potentiation
    775 (CACNA1C)
   04723 Retrograde endocannabinoid signaling
    775 (CACNA1C)
  09157 Sensory system
   04742 Taste transduction
    775 (CACNA1C)
  09159 Environmental adaptation
   04713 Circadian entrainment
    775 (CACNA1C)
 09160 Human Diseases
  09161 Cancer: overview
   05207 Chemical carcinogenesis - receptor activation
    775 (CACNA1C)
  09164 Neurodegenerative disease
   05010 Alzheimer disease
    775 (CACNA1C)
   05020 Prion disease
    775 (CACNA1C)
   05022 Pathways of neurodegeneration - multiple diseases
    775 (CACNA1C)
  09165 Substance dependence
   05031 Amphetamine addiction
    775 (CACNA1C)
  09166 Cardiovascular disease
   05410 Hypertrophic cardiomyopathy
    775 (CACNA1C)
   05412 Arrhythmogenic right ventricular cardiomyopathy
    775 (CACNA1C)
   05414 Dilated cardiomyopathy
    775 (CACNA1C)
  09167 Endocrine and metabolic disease
   04930 Type II diabetes mellitus
    775 (CACNA1C)
   04934 Cushing syndrome
    775 (CACNA1C)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04040 Ion channels [BR:hsa04040]
    775 (CACNA1C)
Ion channels [BR:hsa04040]
 Voltage-gated cation channels
  Calcium channel, voltage-gated (Cav)
   775 (CACNA1C)
SSDB
Motif
Pfam: Ion_trans Ca_chan_IQ GPHH CAC1F_C PKD_channel
Other DBs
NCBI-GeneID: 775
NCBI-ProteinID: NP_000710
OMIM: 114205
HGNC: 1390
Ensembl: ENSP00000382563.1
UniProt: Q13936
Structure
LinkDB
Position
12:1970780..2697950
AA seq 2138 aa
MVNENTRMYIPEENHQGSNYGSPRPAHANMNANAAAGLAPEHIPTPGAALSWQAAIDAAR
QAKLMGSAGNATISTVSSTQRKRQQYGKPKKQGSTTATRPPRALLCLTLKNPIRRACISI
VEWKPFEIIILLTIFANCVALAIYIPFPEDDSNATNSNLERVEYLFLIIFTVEAFLKVIA
YGLLFHPNAYLRNGWNLLDFIIVVVGLFSAILEQATKADGANALGGKGAGFDVKALRAFR
VLRPLRLVSGVPSLQVVLNSIIKAMVPLLHIALLVLFVIIIYAIIGLELFMGKMHKTCYN
QEGIADVPAEDDPSPCALETGHGRQCQNGTVCKPGWDGPKHGITNFDNFAFAMLTVFQCI
TMEGWTDVLYWVNDAVGRDWPWIYFVTLIIIGSFFVLNLVLGVLSGEFSKEREKAKARGD
FQKLREKQQLEEDLKGYLDWITQAEDIDPENEDEGMDEEKPRNMSMPTSETESVNTENVA
GGDIEGENCGARLAHRISKSKFSRYWRRWNRFCRRKCRAAVKSNVFYWLVIFLVFLNTLT
IASEHYNQPNWLTEVQDTANKALLALFTAEMLLKMYSLGLQAYFVSLFNRFDCFVVCGGI
LETILVETKIMSPLGISVLRCVRLLRIFKITRYWNSLSNLVASLLNSVRSIASLLLLLFL
FIIIFSLLGMQLFGGKFNFDEMQTRRSTFDNFPQSLLTVFQILTGEDWNSVMYDGIMAYG
GPSFPGMLVCIYFIILFICGNYILLNVFLAIAVDNLADAESLTSAQKEEEEEKERKKLAR
TASPEKKQELVEKPAVGESKEEKIELKSITADGESPPATKINMDDLQPNENEDKSPYPNP
ETTGEEDEEEPEMPVGPRPRPLSELHLKEKAVPMPEASAFFIFSSNNRFRLQCHRIVNDT
IFTNLILFFILLSSISLAAEDPVQHTSFRNHILFYFDIVFTTIFTIEIALKMTAYGAFLH
KGSFCRNYFNILDLLVVSVSLISFGIQSSAINVVKILRVLRVLRPLRAINRAKGLKHVVQ
CVFVAIRTIGNIVIVTTLLQFMFACIGVQLFKGKLYTCSDSSKQTEAECKGNYITYKDGE
VDHPIIQPRSWENSKFDFDNVLAAMMALFTVSTFEGWPELLYRSIDSHTEDKGPIYNYRV
EISIFFIIYIIIIAFFMMNIFVGFVIVTFQEQGEQEYKNCELDKNQRQCVEYALKARPLR
RYIPKNQHQYKVWYVVNSTYFEYLMFVLILLNTICLAMQHYGQSCLFKIAMNILNMLFTG
LFTVEMILKLIAFKPKHYFCDAWNTFDALIVVGSIVDIAITEVNPAEHTQCSPSMNAEEN
SRISITFFRLFRVMRLVKLLSRGEGIRTLLWTFIKSFQALPYVALLIVMLFFIYAVIGMQ
VFGKIALNDTTEINRNNNFQTFPQAVLLLFRCATGEAWQDIMLACMPGKKCAPESEPSNS
TEGETPCGSSFAVFYFISFYMLCAFLIINLFVAVIMDNFDYLTRDWSILGPHHLDEFKRI
WAEYDPEAKGRIKHLDVVTLLRRIQPPLGFGKLCPHRVACKRLVSMNMPLNSDGTVMFNA
TLFALVRTALRIKTEGNLEQANEELRAIIKKIWKRTSMKLLDQVVPPAGDDEVTVGKFYA
TFLIQEYFRKFKKRKEQGLVGKPSQRNALSLQAGLRTLHDIGPEIRRAISGDLTAEEELD
KAMKEAVSAASEDDIFRRAGGLFGNHVSYYQSDGRSAFPQTFTTQRPLHINKAGSSQGDT
ESPSHEKLVDSTFTPSSYSSTGSNANINNANNTALGRLPRPAGYPSTVSTVEGHGPPLSP
AIRVQEVAWKLSSNRCHSRESQAAMAGQEETSQDETYEVKMNHDTEACSEPSLLSTEMLS
YQDDENRQLTLPEEDKRDIRQSPKRGFLRSASLGRRASFHLECLKRQKDRGGDISQKTVL
PLHLVHHQALAVAGLSPLLQRSHSPASFPRPFATPPATPGSRGWPPQPVPTLRLEGVESS
EKLNSSFPSIHCGSWAETTPGGGGSSAARRVRPVSLMVPSQAGAPGRQFHGSASSLVEAV
LISEGLGQFAQDPKFIEVTTQELADACDMTIEEMESAADNILSGGAPQSPNGALLPFVNC
RDAGQDRAGGEEDAGCVRARGRPSEEELQDSRVYVSSL
NT seq 6417 nt   +upstreamnt  +downstreamnt
atggtcaatgagaatacgaggatgtacattccagaggaaaaccaccaaggttccaactat
gggagcccacgccccgcccatgccaacatgaatgccaatgcggcagcggggctggcccct
gagcacatccccaccccgggggctgccctgtcgtggcaggcggccatcgacgcagcccgg
caggctaagctgatgggcagcgctggcaatgcgaccatctccacagtcagctccacgcag
cggaagcggcagcaatatgggaaacccaagaagcagggcagcaccacggccacacgcccg
ccccgagccctgctctgcctgaccctgaagaaccccatccggagggcctgcatcagcatt
gtcgaatggaaaccatttgaaataattattttactgactatttttgccaattgtgtggcc
ttagcgatctatattccctttccagaagatgattccaacgccaccaattccaacctggaa
cgagtggaatatctctttctcataatttttacggtggaagcgtttttaaaagtaatcgcc
tatggactcctctttcaccccaatgcctacctccgcaacggctggaacctactagatttt
ataattgtggttgtggggctttttagtgcaattttagaacaagcaaccaaagcagatggg
gcaaacgctctcggagggaaaggggccggatttgatgtgaaggcgctgagggccttccgc
gtgctgcgccccctgcggctggtgtccggagtcccaagtctccaggtggtcctgaattcc
atcatcaaggccatggtccccctgctgcacatcgccctgcttgtgctgtttgtcatcatc
atctacgccatcatcggcttggagctcttcatggggaagatgcacaagacctgctacaac
caggagggcatagcagatgttccagcagaagatgacccttccccttgtgcgctggaaacg
ggccacgggcggcagtgccagaacggcacggtgtgcaagcccggctgggatggtcccaag
cacggcatcaccaactttgacaactttgccttcgccatgctcacggtgttccagtgcatc
accatggagggctggacggacgtgctgtactgggtcaatgatgccgtaggaagggactgg
ccctggatctattttgttacactaatcatcatagggtcattttttgtacttaacttggtt
ctcggtgtgcttagcggagagttttccaaagagagggagaaggccaaggcccggggagat
ttccagaagctgcgggagaagcagcagctagaagaggatctcaaaggctacctggattgg
atcactcaggccgaagacatcgatcctgagaatgaggacgaaggcatggatgaggagaag
ccccgaaacatgagcatgcccaccagtgagaccgagtccgtcaacaccgaaaacgtggct
ggaggtgacatcgagggagaaaactgcggggccaggctggcccaccggatctccaagtca
aagttcagccgctactggcgccggtggaatcggttctgcagaaggaagtgccgcgccgca
gtcaagtctaatgtcttctactggctggtgattttcctggtgttcctcaacacgctcacc
attgcctctgagcactacaaccagcccaactggctcacagaagtccaagacacggcaaac
aaggccctgctggccctgttcacggcagagatgctcctgaagatgtacagcctgggcctg
caggcctacttcgtgtccctcttcaaccgctttgactgcttcgtcgtgtgtggcggcatc
ctggagaccatcctggtggagaccaagatcatgtccccactgggcatctccgtgctcaga
tgcgtccggctgctgaggattttcaagatcacgaggtactggaactccttgagcaacctg
gtggcatccttgctgaactctgtgcgctccatcgcctccctgctccttctcctcttcctc
ttcatcatcatcttctccctcctggggatgcagctctttggaggaaagttcaactttgat
gagatgcagacccggaggagcacattcgataacttcccccagtccctcctcactgtgttt
cagatcctgaccggggaggactggaattcggtgatgtatgatgggatcatggcttatggc
ggcccctcttttccagggatgttagtctgtatttacttcatcatcctcttcatctgtgga
aactatatcctactgaatgtgttcttggccattgctgtggacaacctggctgatgctgag
agcctcacatctgcccaaaaggaggaggaagaggagaaggagagaaagaagctggccagg
actgccagcccagagaagaaacaagagttggtggagaagccggcagtgggggaatccaag
gaggagaagattgagctgaaatccatcacggctgacggagagtctccacccgccaccaag
atcaacatggatgacctccagcccaatgaaaatgaggataagagcccctaccccaaccca
gaaactacaggagaagaggatgaggaggagccagagatgcctgtcggccctcgcccacga
ccactctctgagcttcaccttaaggaaaaggcagtgcccatgccagaagccagcgcgttt
ttcatcttcagctctaacaacaggtttcgcctccagtgccaccgcattgtcaatgacacg
atcttcaccaacctgatcctcttcttcattctgctcagcagcatttccctggctgctgag
gacccggtccagcacacctccttcaggaaccatattctgttttattttgatattgttttt
accaccattttcaccattgaaattgctctgaagatgactgcttatggggctttcttgcac
aagggttctttctgccggaactacttcaacatcctggacctgctggtggtcagcgtgtcc
ctcatctcctttggcatccagtccagtgcaatcaatgtcgtgaagatcttgcgagtcctg
cgagtactcaggcccctgagggccatcaacagggccaaggggctaaagcatgtggttcag
tgtgtgtttgtcgccatccggaccatcgggaacatcgtgattgtcaccaccctgctgcag
ttcatgtttgcctgcatcggggtccagctcttcaagggaaagctgtacacctgttcagac
agttccaagcagacagaggcggaatgcaagggcaactacatcacgtacaaagacggggag
gttgaccaccccatcatccaaccccgcagctgggagaacagcaagtttgactttgacaat
gttctggcagccatgatggccctcttcaccgtctccaccttcgaagggtggccagagctg
ctgtaccgctccatcgactcccacacggaagacaagggccccatctacaactaccgtgtg
gagatctccatcttcttcatcatctacatcatcatcatcgccttcttcatgatgaacatc
ttcgtgggcttcgtcatcgtcacctttcaggagcagggggagcaggagtacaagaactgt
gagctggacaagaaccagcgacagtgcgtggaatacgccctcaaggcccggcccctgcgg
aggtacatccccaagaaccagcaccagtacaaagtgtggtacgtggtcaactccacctac
ttcgagtacctgatgttcgtcctcatcctgctcaacaccatctgcctggccatgcagcac
tacggccagagctgcctgttcaaaatcgccatgaacatcctcaacatgctcttcactggc
ctcttcaccgtggagatgatcctgaagctcattgccttcaaacccaagcactatttctgt
gatgcatggaatacatttgacgccttgattgttgtgggtagcattgttgatatagcaatc
accgaggtaaacccagctgaacatacccaatgctctccctctatgaacgcagaggaaaac
tcccgcatctccatcaccttcttccgcctgttccgggtcatgcgtctggtgaagctgctg
agccgtggggagggcatccggacgctgctgtggaccttcatcaagtccttccaggccctg
ccctatgtggccctcctgatcgtgatgctgttcttcatctacgcggtgatcgggatgcag
gtgtttgggaaaattgccctgaatgataccacagagatcaaccggaacaacaactttcag
accttcccccaggccgtgctgctcctcttcaggtgtgccaccggggaggcctggcaggac
atcatgctggcctgcatgccaggcaagaagtgtgccccagagtccgagcccagcaacagc
acggagggtgaaacaccctgtggtagcagctttgctgtcttctacttcatcagcttctac
atgctctgtgccttcctgatcatcaacctctttgtagctgtcatcatggacaactttgac
tacctgacaagggactggtccatccttggtccccaccacctggatgagtttaaaagaatc
tgggcagagtatgaccctgaagccaagggtcgtatcaaacacctggatgtggtgaccctc
ctccggcggattcagccgccactaggttttgggaagctgtgccctcaccgcgtggcttgc
aaacgcctggtctccatgaacatgcctctgaacagcgacgggacagtcatgttcaatgcc
accctgtttgccctggtcaggacggccctgaggatcaaaacagaagggaacctagaacaa
gccaatgaggagctgcgggcgatcatcaagaagatctggaagcggaccagcatgaagctg
ctggaccaggtggtgccccctgcaggtgatgatgaggtcaccgttggcaagttctacgcc
acgttcctgatccaggagtacttccggaagttcaagaagcgcaaagagcagggccttgtg
ggcaagccctcccagaggaacgcgctgtctctgcaggctggcttgcgcacactgcatgac
atcgggcctgagatccgacgggccatctctggagatctcaccgctgaggaggagctggac
aaggccatgaaggaggctgtgtccgctgcttctgaagatgacatcttcaggagggccggt
ggcctgttcggcaaccacgtcagctactaccaaagcgacggccggagcgccttcccccag
accttcaccactcagcgcccgctgcacatcaacaaggcgggcagcagccagggcgacact
gagtcgccatcccacgagaagctggtggactccaccttcaccccgagcagctactcgtcc
accggctccaacgccaacatcaacaacgccaacaacaccgccctgggtcgcctccctcgc
cccgccggctaccccagcacggtcagcactgtggagggccacgggccccccttgtcccct
gccatccgggtgcaggaggtggcgtggaagctcagctccaacaggtgccactcccgggag
agccaggcagccatggcgggtcaggaggagacgtctcaggatgagacctatgaagtgaag
atgaaccatgacacggaggcctgcagtgagcccagcctgctctccacagagatgctctcc
taccaggatgacgaaaatcggcaactgacgctcccagaggaggacaagagggacatccgg
caatctccgaagaggggtttcctccgctctgcctcactaggtcgaagggcctccttccac
ctggaatgtctgaagcgacagaaggaccgagggggagacatctctcagaagacagtcctg
cccttgcatctggttcatcatcaggcattggcagtggcaggcctgagccccctcctccag
agaagccattcccctgcctcattccctaggccttttgccaccccaccagccacacctggc
agccgaggctggcccccacagcccgtccccaccctgcggcttgagggggtcgagtccagt
gagaaactcaacagcagcttcccatccatccactgcggctcctgggctgagaccaccccc
ggtggcgggggcagcagcgccgcccggagagtccggcccgtctccctcatggtgcccagc
caggctggggccccagggaggcagttccacggcagtgccagcagcctggtggaagcggtc
ttgatttcagaaggactggggcagtttgctcaagatcccaagttcatcgaggtcaccacc
caggagctggccgacgcctgcgacatgaccatagaggagatggagagcgcggccgacaac
atcctcagcgggggcgccccacagagccccaatggcgccctcttaccctttgtgaactgc
agggacgcggggcaggaccgagccgggggcgaagaggacgcgggctgtgtgcgcgcgcgg
ggtcgaccgagtgaggaggagctccaggacagcagggtctacgtcagcagcctgtag

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