CACNA1A
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3BXK
Identifiers
Aliases	CACNA1A, APCA, BI, CACNL1A4, CAV2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6, Cav2.1, calcium voltage-gated channel subunit alpha1 A, EIEE42, DEE42
External IDs	OMIM: 601011 MGI: 109482 HomoloGene: 56383 GeneCards: CACNA1A
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19p13.13 Start 13,206,442 bp[1] End 13,633,025 bp[1]
Gene location (Mouse) Chr. Chromosome 8 (mouse)[2] Band 8 C2- C3|8 40.95 cM Start 85,065,268 bp[2] End 85,366,875 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in cerebellar hemisphere Brodmann area 23 postcentral gyrus pons superior frontal gyrus endothelial cell middle temporal gyrus entorhinal cortex nucleus accumbens Brodmann area 46 Top expressed in cerebellar cortex superior frontal gyrus cerebellar vermis inferior colliculus primary motor cortex spermatid piriform cortex olfactory bulb medial geniculate nucleus Region I of hippocampus proper More reference expression data BioGPS More reference expression data
Gene ontology Molecular function metal ion binding ion channel activity voltage-gated ion channel activity syntaxin binding protein binding voltage-gated calcium channel activity calcium channel activity high voltage-gated calcium channel activity amyloid-beta binding Cellular component cytoplasm voltage-gated calcium channel complex cell projection nucleus membrane integral component of membrane plasma membrane neuronal cell body Biological process calcium ion transport cell death transmembrane transport membrane depolarization during action potential regulation of ion transmembrane transport ion transport transport regulation of insulin secretion calcium ion transmembrane transport positive regulation of cytosolic calcium ion concentration membrane depolarization chemical synaptic transmission modulation of chemical synaptic transmission calcium ion import response to amyloid-beta cellular response to amyloid-beta Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 773 12286 Ensembl ENSG00000141837 ENSMUSG00000034656 UniProt O00555 P97445 RefSeq (mRNA) NM_023035 NM_000068 NM_001127221 NM_001127222 NM_001174080 NM_001252059 NM_001252060 NM_001252061 NM_007578 RefSeq (protein) NP_000059 NP_001120693 NP_001120694 NP_001167551 NP_075461 NP_001238988 NP_001238989 NP_001238990 NP_031604 Location (UCSC) Chr 19: 13.21 – 13.63 Mb Chr 8: 85.07 – 85.37 Mb PubMed search [3] [4]
Wikidata
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Ca_v2.1, also called the P/Q voltage-dependent calcium channel, is a calcium channel found mainly in the brain.^[5] Specifically, it is found on the presynaptic terminals of neurons in the brain and cerebellum.^[5] Ca_v2.1 plays an important role in controlling the release of neurotransmitters between neurons.^[5] It is composed of multiple subunits, including alpha-1, beta, alpha-2/delta, and gamma subunits.^[6] The alpha-1 subunit is the pore-forming subunit, meaning that the calcium ions flow through it.^[6] Different kinds of calcium channels have different isoforms (versions) of the alpha-1 subunit. Ca_v2.1 has the alpha-1A subunit,^[6] which is encoded by the CACNA1A gene.^[a][5] Mutations in CACNA1A have been associated with various neurologic disorders, including familial hemiplegic migraine, episodic ataxia type 2, and spinocerebellar ataxia type 6.^[5]

Function

"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."^[6]

Clinical significance

Mutations in the CACNA1A gene are associated with multiple neurologic disorders, many of which are episodic, such as familial hemiplegic migraine, movement disorders such as episodic ataxia, and epilepsy with multiple seizure types.^[8]

"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. However, 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 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6."^[6]

Interactions

Cav2.1 has been shown to interact with CACNB4.^[9][10]