CACNA1C
Summary: This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| calcium voltage-gated channel subunit alpha1 C | MIM:114205 | Ensembl:ENSG00000151067 | HGNC:HGNC:1390 | PA83 | 12p13.33 |
GO terms in CACNA1C
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | IDA | GO:0005891 | voltage-gated calcium channel complex |
| CC | IDA | GO:0014069 | postsynaptic density |
| CC | IDA | GO:0016021 | integral component of membrane |
| CC | ISS | GO:0030018 | Z disc |
| CC | IDA | GO:1990454 | L-type voltage-gated calcium channel complex |
| BP | IMP | GO:0002520 | immune system development |
| BP | IBA | GO:0006816 | calcium ion transport |
| BP | IDA | GO:0007204 | positive regulation of cytosolic calcium ion concentration |
| BP | IMP | GO:0007507 | heart development |
| BP | TAS | GO:0010881 | regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion |
| BP | IMP | GO:0035115 | embryonic forelimb morphogenesis |
| BP | TAS | GO:0035585 | calcium-mediated signaling using extracellular calcium source |
| BP | IMP | GO:0043010 | camera-type eye development |
| BP | TAS | GO:0050796 | regulation of insulin secretion |
| BP | TAS | GO:0060402 | calcium ion transport into cytosol |
| BP | IMP | GO:0061337 | cardiac conduction |
| BP | IDA | GO:0061577 | calcium ion transmembrane transport via high voltage-gated calcium channel |
| BP | IBA | GO:0070509 | calcium ion import |
| BP | IDA | GO:0070588 | calcium ion transmembrane transport |
| BP | IMP | GO:0070588 | calcium ion transmembrane transport |
| BP | IMP | GO:0086002 | cardiac muscle cell action potential involved in contraction |
| BP | IMP | GO:0086012 | membrane depolarization during cardiac muscle cell action potential |
| BP | IMP | GO:0086045 | membrane depolarization during AV node cell action potential |
| BP | TAS | GO:0086064 | cell communication by electrical coupling involved in cardiac conduction |
| BP | IMP | GO:0086091 | regulation of heart rate by cardiac conduction |
| BP | IMP | GO:0098911 | regulation of ventricular cardiac muscle cell action potential |
| BP | IMP | GO:0098912 | membrane depolarization during atrial cardiac muscle cell action potential |
| MF | IBA | GO:0005245 | voltage-gated calcium channel activity |
| MF | IDA | GO:0005245 | voltage-gated calcium channel activity |
| MF | IMP | GO:0005245 | voltage-gated calcium channel activity |
| MF | TAS | GO:0005245 | voltage-gated calcium channel activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0005516 | calmodulin binding |
| MF | IBA | GO:0008331 | high voltage-gated calcium channel activity |
| MF | IDA | GO:0008331 | high voltage-gated calcium channel activity |
| MF | TAS | GO:0008331 | high voltage-gated calcium channel activity |
| MF | IEA | GO:0046872 | metal ion binding |
| MF | IPI | GO:0051393 | alpha-actinin binding |
| MF | IMP | GO:0086007 | voltage-gated calcium channel activity involved in cardiac muscle cell action potential |
| MF | IMP | GO:0086007 | voltage-gated calcium channel activity involved in cardiac muscle cell action potential |
| MF | IMP | GO:0086056 | voltage-gated calcium channel activity involved in AV node cell action potential |
Gene expression in normal tissue: CACNA1C
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CACNA1C
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-163685 | Integration of energy metabolism |
| reactome | R-HSA-163685 | Integration of energy metabolism |
| reactome | R-HSA-375165 | NCAM signaling for neurite out-growth |
| reactome | R-HSA-397014 | Muscle contraction |
| reactome | R-HSA-400042 | Adrenaline,noradrenaline inhibits insulin secretion |
| reactome | R-HSA-419037 | NCAM1 interactions |
| reactome | R-HSA-422356 | Regulation of insulin secretion |
| reactome | R-HSA-422356 | Regulation of insulin secretion |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-5576891 | Cardiac conduction |
| reactome | R-HSA-5576892 | Phase 0 - rapid depolarisation |
| reactome | R-HSA-5576893 | Phase 2 - plateau phase |
| smpdb | SMP00296 | Acebutolol Action Pathway |
| smpdb | SMP00297 | Alprenolol Action Pathway |
| smpdb | SMP00298 | Atenolol Action Pathway |
| smpdb | SMP00299 | Betaxolol Action Pathway |
| smpdb | SMP00300 | Bisoprolol Action Pathway |
| smpdb | SMP00301 | Esmolol Action Pathway |
| smpdb | SMP00302 | Metoprolol Action Pathway |
| smpdb | SMP00303 | Nadolol Action Pathway |
| smpdb | SMP00304 | Oxprenolol Action Pathway |
| smpdb | SMP00305 | Penbutolol Action Pathway |
| smpdb | SMP00306 | Pindolol Action Pathway |
| smpdb | SMP00307 | Propranolol Action Pathway |
| smpdb | SMP00323 | Quinidine Action Pathway |
| smpdb | SMP00324 | Procainamide (Antiarrhythmic) Action Pathway |
| smpdb | SMP00325 | Disopyramide Action Pathway |
| smpdb | SMP00326 | Fosphenytoin (Antiarrhythmic) Action Pathway |
| smpdb | SMP00327 | Phenytoin (Antiarrhythmic) Action Pathway |
| smpdb | SMP00328 | Lidocaine (Antiarrhythmic) Action Pathway |
| smpdb | SMP00329 | Mexiletine Action Pathway |
| smpdb | SMP00330 | Tocainide Action Pathway |
| smpdb | SMP00331 | Flecainide Action Pathway |
| smpdb | SMP00332 | Ibutilide Action Pathway |
| smpdb | SMP00359 | Diltiazem Action Pathway |
| smpdb | SMP00366 | Nebivolol Action Pathway |
| smpdb | SMP00367 | Carvedilol Action Pathway |
| smpdb | SMP00368 | Labetalol Action Pathway |
| smpdb | SMP00375 | Verapamil Action Pathway |
| smpdb | SMP00376 | Amlodipine Action Pathway |
| smpdb | SMP00377 | Felodipine Action Pathway |
| smpdb | SMP00378 | Isradipine Action Pathway |
| smpdb | SMP00379 | Nifedipine Action Pathway |
| smpdb | SMP00380 | Nimodipine Action Pathway |
| smpdb | SMP00381 | Nisoldipine Action Pathway |
| smpdb | SMP00382 | Nitrendipine Action Pathway |
| smpdb | SMP00588 | Muscle/Heart Contraction |
| smpdb | SMP00619 | Felodipine Metabolism Pathway |
| smpdb | SMP00657 | Bopindolol Action Pathway |
| smpdb | SMP00658 | Carteolol Action Pathway |
| smpdb | SMP00659 | Timolol Action Pathway |
| smpdb | SMP00660 | Sotalol Action Pathway |
| smpdb | SMP00661 | Epinephrine Action Pathway |
| smpdb | SMP00662 | Dobutamine Action Pathway |
| smpdb | SMP00663 | Isoprenaline Action Pathway |
| smpdb | SMP00664 | Arbutamine Action Pathway |
| smpdb | SMP00665 | Amiodarone Action Pathway |
| smpdb | SMP00666 | Levobunolol Action Pathway |
| smpdb | SMP00667 | Metipranolol Action Pathway |
| smpdb | SMP00668 | Bevantolol Action Pathway |
| smpdb | SMP00669 | Practolol Action Pathway |
| smpdb | SMP00670 | Bupranolol Action Pathway |
| wikipathways | WP1603 | Nicotine Activity on Chromaffin Cells |
| wikipathways | WP2059 | Alzheimers Disease |
| wikipathways | WP2118 | Arrhythmogenic Right Ventricular Cardiomyopathy |
| wikipathways | WP382 | MAPK Signaling Pathway |
| wikipathways | WP536 | Calcium Regulation in the Cardiac Cell |
| kegg | hsa04010 | MAPK signaling pathway - Homo sapiens (human) |
| kegg | hsa04020 | Calcium signaling pathway - Homo sapiens (human) |
| kegg | hsa04022 | cGMP-PKG signaling pathway - Homo sapiens (human) |
| kegg | hsa04024 | cAMP signaling pathway - Homo sapiens (human) |
| kegg | hsa04260 | Cardiac muscle contraction - Homo sapiens (human) |
| kegg | hsa04261 | Adrenergic signaling in cardiomyocytes - Homo sapiens (human) |
| kegg | hsa04270 | Vascular smooth muscle contraction - Homo sapiens (human) |
| kegg | hsa04713 | Circadian entrainment - Homo sapiens (human) |
| kegg | hsa04720 | Long-term potentiation - Homo sapiens (human) |
| kegg | hsa04723 | Retrograde endocannabinoid signaling - Homo sapiens (human) |
| kegg | hsa04724 | Glutamatergic synapse - Homo sapiens (human) |
| kegg | hsa04725 | Cholinergic synapse - Homo sapiens (human) |
| kegg | hsa04726 | Serotonergic synapse - Homo sapiens (human) |
| kegg | hsa04727 | GABAergic synapse - Homo sapiens (human) |
| kegg | hsa04728 | Dopaminergic synapse - Homo sapiens (human) |
| kegg | hsa04742 | Taste transduction - Homo sapiens (human) |
| kegg | hsa04911 | Insulin secretion - Homo sapiens (human) |
| kegg | hsa04912 | GnRH signaling pathway - Homo sapiens (human) |
| kegg | hsa04921 | Oxytocin signaling pathway - Homo sapiens (human) |
| kegg | hsa04924 | Renin secretion - Homo sapiens (human) |
| kegg | hsa04925 | Aldosterone synthesis and secretion - Homo sapiens (human) |
| kegg | hsa04927 | Cortisol synthesis and secretion - Homo sapiens (human) |
| kegg | hsa04930 | Type II diabetes mellitus - Homo sapiens (human) |
| kegg | hsa04934 | Cushing,s syndrome - Homo sapiens (human) |
| kegg | hsa05010 | Alzheimer,s disease - Homo sapiens (human) |
| kegg | hsa05031 | Amphetamine addiction - Homo sapiens (human) |
| kegg | hsa05410 | Hypertrophic cardiomyopathy (HCM) - Homo sapiens (human) |
| kegg | hsa05412 | Arrhythmogenic right ventricular cardiomyopathy (ARVC) - Homo sapiens (human) |
| kegg | hsa05414 | Dilated cardiomyopathy (DCM) - Homo sapiens (human) |
| pharmgkb | PA152241951 | Celecoxib Pathway, Pharmacodynamics |
| pharmgkb | PA153627758 | Anti-diabetic Drug Potassium Channel Inhibitors Pathway, Pharmacodynamics |
| pharmgkb | PA162355620 | Nicotine Pathway (Chromaffin Cell), Pharmacodynamics |
| pharmgkb | PA165959313 | Valproic Acid Pathway, Pharmacodynamics |
| pharmgkb | PA165964473 | Pathway_PA165964473 |
| pharmgkb | PA2024 | Beta-agonist/Beta-blocker Pathway, Pharmacodynamics |
| pharmgkb | PA2030 | Sympathetic Nerve Pathway (Pre- and Post- Ganglionic Junction) |
| pharmgkb | PA2033 | Antiarrhythmic Pathway, Pharmacodynamics |
| pharmgkb | PA2042 | Sympathetic Nerve Pathway (Neuroeffector Junction) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD399 | Selumetinib | 1 |
| iGMDRD131 | Erlotinib | 1 |
| iGMDRD353 | PD0325901 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in CACNA1C
CLASSFICATION
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