CACNA1C (calcium voltage-gated channel subunit alpha1 C) - Chinchilla Research Resource Database
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Gene: CACNA1C (calcium voltage-gated channel subunit alpha1 C) Homo sapiens
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Symbol: CACNA1C
Name: calcium voltage-gated channel subunit alpha1 C
CRRD ID: 10268
Description: Exhibits alpha-actinin binding activity; calmodulin binding activity; and voltage-gated calcium channel activity. Involved in several processes, including calcium ion transmembrane transport via high voltage-gated calcium channel; embryonic forelimb morphogenesis; and regulation of heart contraction. Localizes to L-type voltage-gated calcium channel complex; cytoplasm; and postsynaptic density. Implicated in Brugada syndrome 3 and Timothy syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CACH2; CACN2; CACNL1A1; calcium channel, cardic dihydropyridine-sensitive, alpha-1 subunit; calcium channel, L type, alpha 1 polypeptide, isoform 1, cardic muscle; calcium channel, L type, alpha-1 polypeptide, isoform 1, cardiac muscle; calcium channel, voltage-dependent, alpha 1c subunit; calcium channel, voltage-dependent, L type, alpha 1C subunit; CaV1.2; CCHL1A1; DHPR, alpha-1 subunit; LQT8; MGC120730; TS; TS. LQT8; voltage-dependent L-type Ca2+ channel alpha 1 subunit; voltage-dependent L-type calcium channel subunit alpha-1C; voltage-gated calcium channel alpha subunit Cav1.2; voltage-gated calcium channel subunit alpha Cav1.2; voltage-gated L-type calcium channel Cav1.2 alpha 1 subunit, splice variant 10*
Orthologs:
Mus musculus (house mouse) : Cacna1c (calcium channel, voltage-dependent, L type, alpha 1C subunit)  MGI  Alliance
Rattus norvegicus (Norway rat) : Cacna1c (calcium voltage-gated channel subunit alpha1 C)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Cacna1c (calcium voltage-gated channel subunit alpha1 C)
Pan paniscus (bonobo/pygmy chimpanzee) : CACNA1C (calcium voltage-gated channel subunit alpha1 C)
Canis lupus familiaris (dog) : CACNA1C (calcium voltage-gated channel subunit alpha1 C)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Cacna1c (calcium voltage-gated channel subunit alpha1 C)
Sus scrofa (pig) : CACNA1C (calcium voltage-gated channel subunit alpha1 C)
Chlorocebus sabaeus (African green monkey) : CACNA1C (calcium voltage-gated channel subunit alpha1 C)
Heterocephalus glaber (naked mole-rat) : Cacna1c (calcium voltage-gated channel subunit alpha1 C)
more info ...
Related Pseudogenes: LOC100422463  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl121,970,786 - 2,697,950 (+)EnsemblGRCh38hg38GRCh38
GRCh38121,969,552 - 2,697,950 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37122,079,952 - 2,807,115 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,032,725 - 2,677,376 (+)NCBINCBI36hg18NCBI36
Build 34122,032,724 - 2,672,368NCBI
Celera123,770,102 - 4,421,688 (+)NCBI
Cytogenetic Map12p13.33NCBI
HuRef122,016,425 - 2,664,566 (+)NCBIHuRef
CHM1_1122,161,408 - 2,806,152 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(R)-mevalonic acid  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP,ISO)
4,4'-sulfonyldiphenol  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
aflatoxin B2  (EXP)
all-trans-retinoic acid  (ISO)
allethrin  (ISO)
amiodarone  (ISO)
amphetamine  (ISO)
androgen antagonist  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (ISO)
atenolol  (EXP)
barium(0)  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
Butylparaben  (ISO)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cisplatin  (ISO)
crizotinib  (EXP)
DDE  (ISO)
diarsenic trioxide  (ISO)
dibutyl phthalate  (ISO)
diltiazem  (ISO)
disodium selenite  (ISO)
doxorubicin  (EXP,ISO)
endosulfan  (ISO)
enzacamene  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ezogabine  (EXP)
fenvalerate  (ISO)
formaldehyde  (ISO)
furan  (ISO)
iron dextran  (ISO)
isoprenaline  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
linsidomine  (EXP)
linuron  (ISO)
methamphetamine  (ISO)
methapyrilene  (EXP)
methotrexate  (EXP)
methylene blue  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (EXP)
nicotine  (ISO)
nifedipine  (EXP,ISO)
nimodipine  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
peroxynitrous acid  (EXP)
pioglitazone  (ISO)
potassium chloride  (EXP)
pregabalin  (ISO)
prochloraz  (ISO)
procymidone  (ISO)
progesterone  (ISO)
Ptaquiloside  (ISO)
resveratrol  (ISO)
rotenone  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
simvastatin  (ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium cyanide  (ISO)
streptozocin  (ISO)
sunitinib  (EXP,ISO)
tetrachloromethane  (ISO)
thalidomide  (ISO)
torcetrapib  (EXP)
trichloroethene  (EXP)
tunicamycin  (ISO)
valproic acid  (EXP,ISO)
verapamil  (EXP,ISO)
vinclozolin  (ISO)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adult walking behavior  (ISO)
calcium ion import  (IBA)
calcium ion import across plasma membrane  (ISO)
calcium ion transmembrane transport  (IDA,IEA,IMP)
calcium ion transmembrane transport via high voltage-gated calcium channel  (IDA)
calcium ion transport  (IBA)
calcium ion transport into cytosol  (ISS,TAS)
calcium-ion regulated exocytosis  (ISO)
calcium-mediated signaling using extracellular calcium source  (TAS)
camera-type eye development  (IMP)
cardiac conduction  (IMP,TAS)
cardiac muscle cell action potential involved in contraction  (IMP)
cell communication by electrical coupling involved in cardiac conduction  (TAS)
cell communication involved in cardiac conduction  (ISO)
cellular calcium ion homeostasis  (ISO)
cellular response to amyloid-beta  (ISO)
chemical synaptic transmission  (ISO)
embryonic forelimb morphogenesis  (IMP)
glucose homeostasis  (ISO)
growth hormone secretion  (ISO)
heart development  (IMP)
immune system development  (IMP)
insulin secretion  (ISO)
membrane depolarization during atrial cardiac muscle cell action potential  (IMP)
membrane depolarization during AV node cell action potential  (IMP)
membrane depolarization during cardiac muscle cell action potential  (IMP)
positive regulation of adenylate cyclase activity  (ISS)
positive regulation of calcium ion transmembrane transport via high voltage-gated calcium channel  (ISO)
positive regulation of cytosolic calcium ion concentration  (IDA)
regulation of blood pressure  (ISO)
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion  (ISS,TAS)
regulation of heart rate by cardiac conduction  (IMP)
regulation of insulin secretion  (TAS)
regulation of ion transmembrane transport  (IEA)
regulation of organ growth  (ISO)
regulation of vasoconstriction  (ISO)
regulation of ventricular cardiac muscle cell action potential  (IMP)
smooth muscle contraction  (ISO)
smooth muscle contraction involved in micturition  (ISO)
viral process  (IEA)
visual learning  (ISO)

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway  (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
Alzheimer's disease pathway  (IEA)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
arrhythmogenic right ventricular cardiomyopathy pathway  (IEA)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway  (EXP)
calcium transport pathway  (TAS)
calcium/calcium-mediated signaling pathway  (TAS)
calcium/calmodulin dependent kinase 2 signaling pathway  (TAS)
carvedilol pharmacodynamics pathway  (EXP)
dilated cardiomyopathy pathway  (IEA)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
felodipine pharmacokinetics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
glutamate signaling pathway  (IEA)
gonadotropin-releasing hormone signaling pathway  (IEA)
hypertrophic cardiomyopathy pathway  (IEA)
ibutilide pharmacodynamics pathway  (EXP)
insulin secretion pathway  (TAS)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
long term potentiation  (IEA)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
mitogen activated protein kinase signaling pathway  (IEA)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
type 2 diabetes mellitus pathway  (IEA)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1316612   PMID:1330882   PMID:1335957   PMID:1650913   PMID:1653763   PMID:2173707   PMID:7737988   PMID:7959794   PMID:8099908   PMID:8392192   PMID:8612821   PMID:8619474  
PMID:8664319   PMID:9013606   PMID:9087614   PMID:9110174   PMID:9247274   PMID:9607315   PMID:9668070   PMID:10022083   PMID:11206130   PMID:11438518   PMID:11438519   PMID:11461190  
PMID:11576544   PMID:11741969   PMID:12130699   PMID:12163037   PMID:12166659   PMID:12176756   PMID:12477932   PMID:12593842   PMID:12832067   PMID:12962146   PMID:14140941   PMID:14702039  
PMID:14722109   PMID:14981074   PMID:15140941   PMID:15141227   PMID:15170217   PMID:15299022   PMID:15339916   PMID:15454078   PMID:15583004   PMID:15671035   PMID:15728831   PMID:15749491  
PMID:15845581   PMID:15916803   PMID:15953418   PMID:15980164   PMID:15980432   PMID:16020652   PMID:16157588   PMID:16285952   PMID:16299511   PMID:16319140   PMID:16338416   PMID:16382099  
PMID:16483597   PMID:16610939   PMID:16648185   PMID:16820363   PMID:17071743   PMID:17110593   PMID:17173968   PMID:17224476   PMID:17593353   PMID:17916557   PMID:17942635   PMID:17950697  
PMID:18174367   PMID:18250309   PMID:18317468   PMID:18359894   PMID:18535142   PMID:18535201   PMID:18536931   PMID:18596041   PMID:18603601   PMID:18618671   PMID:18675806   PMID:18711365  
PMID:18836301   PMID:18927079   PMID:19065143   PMID:19095005   PMID:19106618   PMID:19205682   PMID:19215628   PMID:19225208   PMID:19265197   PMID:19279214   PMID:19343720   PMID:19351867  
PMID:19388002   PMID:19492014   PMID:19520970   PMID:19620129   PMID:19621016   PMID:19625771   PMID:19687230   PMID:19717733   PMID:19781653   PMID:19913121   PMID:19916019   PMID:19952088  
PMID:20031608   PMID:20066046   PMID:20098439   PMID:20169111   PMID:20201926   PMID:20226536   PMID:20301308   PMID:20301577   PMID:20301690   PMID:20351715   PMID:20351721   PMID:20371314  
PMID:20379614   PMID:20424473   PMID:20628086   PMID:20636642   PMID:20638048   PMID:20677014   PMID:20679588   PMID:20719785   PMID:20723887   PMID:20817017   PMID:20819988   PMID:20924598  
PMID:20953164   PMID:21042317   PMID:21057379   PMID:21078228   PMID:21098446   PMID:21134641   PMID:21145461   PMID:21186355   PMID:21282112   PMID:21292451   PMID:21352396   PMID:21395576  
PMID:21464227   PMID:21487241   PMID:21519340   PMID:21521762   PMID:21664226   PMID:21665954   PMID:21676128   PMID:21685391   PMID:21712653   PMID:21767209   PMID:21788606   PMID:21810465  
PMID:21873635   PMID:21926972   PMID:21926974   PMID:21931320   PMID:21998324   PMID:22012475   PMID:22085483   PMID:22100296   PMID:22142827   PMID:22261054   PMID:22464935   PMID:22490625  
PMID:22590648   PMID:22614287   PMID:22614292   PMID:22647524   PMID:22665259   PMID:22688191   PMID:22705413   PMID:22914618   PMID:22957138   PMID:22985546   PMID:22990809   PMID:23222517  
PMID:23404764   PMID:23406546   PMID:23437284   PMID:23437964   PMID:23453885   PMID:23557075   PMID:23575362   PMID:23677916   PMID:23680436   PMID:23728906   PMID:23733657   PMID:23771339  
PMID:23804206   PMID:23860750   PMID:23880959   PMID:23900723   PMID:23948586   PMID:23948887   PMID:23973784   PMID:23974872   PMID:23979604   PMID:24026422   PMID:24108394   PMID:24240197  
PMID:24262814   PMID:24269271   PMID:24275578   PMID:24280982   PMID:24315451   PMID:24355530   PMID:24365142   PMID:24411473   PMID:24612926   PMID:24642287   PMID:24643163   PMID:24681347  
PMID:24716743   PMID:24728418   PMID:24816216   PMID:24941892   PMID:24996399   PMID:25056061   PMID:25107449   PMID:25184293   PMID:25290268   PMID:25341504   PMID:25403839   PMID:25470093  
PMID:25588813   PMID:25633834   PMID:25841664   PMID:25843436   PMID:25918994   PMID:26048451   PMID:26049024   PMID:26049408   PMID:26100638   PMID:26204268   PMID:26216687   PMID:26227746  
PMID:26253506   PMID:26276307   PMID:26401721   PMID:26406417   PMID:26475575   PMID:26476274   PMID:26507659   PMID:26509803   PMID:26525885   PMID:26541689   PMID:26553695   PMID:26611642  
PMID:26750869   PMID:26756527   PMID:27122098   PMID:27124316   PMID:27218670   PMID:27221213   PMID:27260792   PMID:27276213   PMID:27341015   PMID:27418245   PMID:27502440   PMID:27529678  
PMID:27620326   PMID:27744593   PMID:27790829   PMID:27868338   PMID:27893184   PMID:28119464   PMID:28391406   PMID:28398341   PMID:28427417   PMID:28481223   PMID:28493952   PMID:28494468  
PMID:28514967   PMID:28521147   PMID:28552773   PMID:28593527   PMID:28607492   PMID:28611215   PMID:28696432   PMID:28765577   PMID:28792954   PMID:28807015   PMID:28866666   PMID:29123182  
PMID:29362489   PMID:29385621   PMID:29501388   PMID:29509190   PMID:29568937   PMID:29581247   PMID:29683785   PMID:29684488   PMID:29691127   PMID:29733866   PMID:29736926   PMID:29742403  
PMID:29779930   PMID:29959960   PMID:30079586   PMID:30102687   PMID:30124797   PMID:30172029   PMID:30268820   PMID:30279520   PMID:30304534   PMID:30345660   PMID:30348784   PMID:30422117  
PMID:30513141   PMID:30733149   PMID:30978379   PMID:31012223   PMID:31033230   PMID:31061683   PMID:31076262   PMID:31291898   PMID:31302118   PMID:31324123   PMID:31355778   PMID:31462068  
PMID:31663850   PMID:31805042   PMID:31829002   PMID:32186935   PMID:32770953   PMID:32859919  


Genomics

Comparative Map Data
CACNA1C
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl121,970,786 - 2,697,950 (+)EnsemblGRCh38hg38GRCh38
GRCh38121,969,552 - 2,697,950 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37122,079,952 - 2,807,115 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36122,032,725 - 2,677,376 (+)NCBI