Cav2.1

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Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols CACNA1A ; APCA; BI; CACNL1A4; CAV2.1; EA2; FHM; HPCA; MHP; MHP1; SCA6
External IDs OMIM601011 MGI109482 HomoloGene56383 IUPHAR: Cav2.1 ChEMBL: 4266 GeneCards: CACNA1A Gene
RNA expression pattern
PBB GE CACNA1A 214933 at tn.png
PBB GE CACNA1A 206399 x at tn.png
PBB GE CACNA1A 210770 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 773 12286
Ensembl ENSG00000141837 ENSMUSG00000034656
UniProt O00555 P97445
RefSeq (mRNA) NM_000068 NM_001252059
RefSeq (protein) NP_000059 NP_001238988
Location (UCSC) Chr 19:
13.32 – 13.73 Mb
Chr 8:
84.39 – 84.64 Mb
PubMed search [1] [2]

The Cav2.1 P/Q voltage-dependent calcium channel is encoded by the CACNA1A gene.

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 have been described, however, the full-length nature of not all is known. 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 4-16 to 21-28 in the coding region is associated with spinocerebellar ataxia 6.[1]

Interactions[edit]

Cav2.1 has been shown to interact with CACNB4.[2][3]

References[edit]

  1. ^ "Entrez Gene: CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit". 
  2. ^ Walker, D; Bichet D; Campbell K P; De Waard M (Jan 1998). "A beta 4 isoform-specific interaction site in the carboxyl-terminal region of the voltage-dependent Ca2+ channel alpha 1A subunit". J. Biol. Chem. (UNITED STATES) 273 (4): 2361–2367. doi:10.1074/jbc.273.4.2361. ISSN 0021-9258. PMID 9442082. 
  3. ^ Walker, D; Bichet D; Geib S; Mori E; Cornet V; Snutch T P; Mori Y; De Waard M (Apr 1999). "A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation". J. Biol. Chem. (UNITED STATES) 274 (18): 12383–12390. doi:10.1074/jbc.274.18.12383. ISSN 0021-9258. PMID 10212211. 

Further reading[edit]

External links[edit]