QuickView for CACNA1A (gene)

Gene Symbol:

CACNA1A Homo sapiens

Full name:

calcium voltage-gated channel subunit alpha1 A

Synonyms:

APCA, BI, CACNL1A4, CAV2.1, EA2, EIEE42, FHM, HPCA, MHP, MHP1, SCA6, voltage-dependent P/Q-type calcium channel subunit alpha-1A, brain calcium channel 1, brain calcium channel I, calcium channel, L type, alpha-1 polypeptide, calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, fetal brain Ca2+ voltage-gated channel alpha1A pore-forming subunit, voltage-gated calcium channel subunit alpha Cav2.1

Genomic Location:

Chr 19: 13178256-13478274

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...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

GATTGGY_NFY_Q6_01 ,  TGANTCA_AP1_C ,  P53_DECAMER_Q2 ,  ZF5_01 ,  NGFIC_01 ,  RGAANNTTC_HSF1_01 ,  SP1_Q4_01 ,  EGR_Q6 ,  CTTTAAR_UNKNOWN ,  SP1_Q6 ,  RORA1_01 ,  RNGTGGGC_UNKNOWN ,  IRF7_01 ,  SREBP_Q3 ,  GTGGGTGK_UNKNOWN ,  RORA2_01 ,  EGR1_01 ,  SP1_Q6_01 ,  SP1_Q2_01 ,  GGGTGGRR_PAX4_03

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Cytogenetic Map:

19p13.13

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