Gene: CACNA1A (calcium voltage-gated channel subunit alpha1 A) Homo sapiens
Symbol: CACNA1A
Name: calcium voltage-gated channel subunit alpha1 A
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: APCA; BI; brain calcium channel 1; brain calcium channel I; CACNL1A4; calcium channel, L type, alpha-1 polypeptide; calcium channel, voltage-dependent, alpha 1a subunit; calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; CAV2.1; EA2; EIEE42; fetal brain Ca2+ voltage-gated channel alpha1A pore-forming subunit; FHM; HPCA; MHP; MHP1; SCA6; voltage-dependent P/Q-type calcium channel subunit alpha-1A; voltage-gated calcium channel subunit alpha Cav2.1
Mus musculus (house mouse) : Cacna1a (calcium channel, voltage-dependent, P/Q type, alpha 1A subunit)  MGI  Alliance
Rattus norvegicus (Norway rat) : Cacna1a (calcium voltage-gated channel subunit alpha1 A)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Cacna1a (calcium voltage-gated channel subunit alpha1 A)
Pan paniscus (bonobo/pygmy chimpanzee) : CACNA1A (calcium voltage-gated channel subunit alpha1 A)
Canis lupus familiaris (dog) : CACNA1A (calcium voltage-gated channel subunit alpha1 A)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Cacna1a (calcium voltage-gated channel subunit alpha1 A)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381913,206,442 - 13,506,460 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371913,317,256 - 13,617,274 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361913,178,256 - 13,478,274 (-)NCBINCBI36hg18NCBI36
Build 341913,179,114 - 13,478,317NCBI
Celera1913,207,639 - 13,507,772 (-)NCBI
Cytogenetic Map19p13.13NCBI
HuRef1912,889,634 - 13,189,171 (-)NCBIHuRef
CHM1_11913,318,256 - 13,618,198 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on CACNA1A
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 735950
Created: 2004-02-06
Species: Homo sapiens
Last Modified: 2018-08-08
Status: ACTIVE