Gene: CACNA1A (calcium voltage-gated channel subunit alpha1 A) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
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