Aliases for CACNA1C Gene
- Calcium Channel, Voltage-Dependent, L Type, Alpha 1C Subunit 2 3
- Calcium Channel, L Type, Alpha-1 Polypeptide, Isoform 1, Cardiac Muscle 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
- Calcium Channel, Cardic Dihydropyridine-Sensitive, Alpha-1 Subunit 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 Channel, Voltage-Dependent, L Type, Alpha 1C Subunit) is a Protein Coding gene. Diseases associated with CACNA1C include timothy syndrome type 1 and timothy syndrome. Among its related pathways are MAPK signaling pathway and Developmental Biology. 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
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1C gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the high-voltage activated (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin-GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1C subunit play an important role in excitation-contraction coupling in the heart. The various isoforms display marked differences in the sensitivity to DHP compounds. Binding of calmodulin or CABP1 at the same regulatory sites results in an opposit effects on the channel function.
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.