CACNA1A
Summary: Voltage-dependent calcium channels 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, and gene expression. Calcium channels are multisubunit complexes composed of alpha-1, beta, alpha-2/delta, and gamma subunits. The channel activity is directed by the pore-forming alpha-1 subunit, whereas, the others act as auxiliary subunits regulating this activity. The distinctive properties of the calcium channel types are related primarily to the expression of a variety of alpha-1 isoforms, alpha-1A, B, C, D, E, and S. This gene encodes the alpha-1A subunit, which is predominantly expressed in neuronal tissue. Mutations in this gene are associated with 2 neurologic disorders, familial hemiplegic migraine and episodic ataxia 2. This gene also exhibits polymorphic variation due to (CAG)n-repeats. Multiple transcript variants encoding different isoforms have been found for this gene. In one set of transcript variants, the (CAG)n-repeats occur in the 3' UTR, and are not associated with any disease. But in another set of variants, an insertion extends the coding region to include the (CAG)n-repeats which encode a polyglutamine tract. Expansion of the (CAG)n-repeats from the normal 4-18 to 21-33 in the coding region is associated with spinocerebellar ataxia 6. [provided by RefSeq, Jul 2016].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
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OMIM IDMIM:601011 Ensembl IDEnsembl:ENSG00000141837 HGNC IDHGNC:HGNC:1388 PHARMGKB IDPA26007 Map Location19p13.13 |
GO terms in CACNA1A
Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
MF | IBA | GO:0005245 | voltage-gated calcium channel activity |
MF | IDA | GO:0005245 | voltage-gated calcium channel activity |
MF | IGI | GO:0005245 | voltage-gated calcium channel activity |
MF | ISS | GO:0005245 | voltage-gated calcium channel activity |
MF | TAS | GO:0005245 | voltage-gated calcium channel activity |
MF | TAS | GO:0005262 | calcium channel activity |
Gene expression in normal tissue: CACNA1A
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in CACNA1A
Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-112308 | Presynaptic depolarization and calcium channel opening |
reactome | R-HSA-112315 | Transmission across Chemical Synapses |
reactome | R-HSA-112316 | Neuronal System |
reactome | R-HSA-1430728 | Metabolism |
reactome | R-HSA-163685 | Integration of energy metabolism |
reactome | R-HSA-422356 | Regulation of insulin secretion |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in CACNA1A
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |