Aliases for CACNA1C Gene
- Calcium Voltage-Gated Channel Subunit Alpha1 C 2 3 5
- Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 1, Cardiac Muscle 3 4
- Calcium Channel, Voltage-Dependent, L Type, Alpha 1C Subunit 2 3
- Voltage-Dependent L-Type Calcium Channel Subunit Alpha-1C 3 4
- CACNL1A1 3 4
- CCHL1A1 3 4
- CACH2 3 4
- CACN2 3 4
- Voltage-Gated L-Type Calcium Channel Cav1.2 Alpha 1 Subunit, Splice Variant 10* 3
External Ids for CACNA1C Gene
Previous HGNC Symbols for CACNA1C Gene
Previous GeneCards Identifiers for CACNA1C Gene
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]
GeneCards Summary for CACNA1C Gene
CACNA1C (Calcium Voltage-Gated Channel Subunit Alpha1 C) is a Protein Coding gene. Diseases associated with CACNA1C include Timothy Syndrome and Brugada Syndrome 3. Among its related pathways are Amphetamine addiction and Dilated cardiomyopathy (DCM). Gene Ontology (GO) annotations related to this gene include enzyme binding and ion channel activity. An important paralog of this gene is CACNA1D.
UniProtKB/Swiss-Prot for CACNA1C Gene
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:8392192, PubMed:7737988, PubMed:9087614, PubMed:9013606, PubMed:9607315, PubMed:12176756, PubMed:17071743, PubMed:11741969, PubMed:8099908, PubMed:12181424, PubMed:29078335, PubMed:29742403, PubMed:16299511, PubMed:20953164, PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506, PubMed:27218670). Mediates influx of calcium ions into the cytoplasm, and thereby triggers calcium release from the sarcoplasm (By similarity). Plays an important role in excitation-contraction coupling in the heart. Required for normal heart development and normal regulation of heart rhythm (PubMed:15454078, PubMed:15863612, PubMed:17224476, PubMed:24728418, PubMed:26253506). Required for normal contraction of smooth muscle cells in blood vessels and in the intestine. Essential for normal blood pressure regulation via its role in the contraction of arterial smooth muscle cells (PubMed:28119464). Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group (Probable).
(Microbial infection) Acts as a receptor for Influenzavirus (PubMed:29779930). May play a critical role in allowing virus entry when sialylated and expressed on lung tissues (PubMed:29779930).
Voltage-gated calcium channels (CaV) are present in the membrane of most excitable cells and mediate calcium influx in response to depolarization. They regulate intracellular processes such as contraction, secretion, neurotransmission and gene expression.