Cav2.1

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CACNA1A
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CACNA1A, APCA, BI, CACNL1A4, CAV2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6, Cav2.1, calcium voltage-gated channel subunit alpha1 A
External IDs MGI: 109482 HomoloGene: 56383 GeneCards: 773
RNA expression pattern
PBB GE CACNA1A 206399 x at tn.png

PBB GE CACNA1A 210770 s at tn.png

PBB GE CACNA1A 214933 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_023035
NM_000068
NM_001127221
NM_001127222
NM_001174080

NM_001252059
NM_001252060
NM_001252061
NM_007578

RefSeq (protein)

NP_000059.3
NP_001120693.1
NP_001120694.1
NP_001167551.1
NP_075461.2

NP_031604.3

Location (UCSC) Chr 19: 13.21 – 13.62 Mb Chr 8: 84.39 – 84.64 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

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

Function[edit]

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.

Clinical significance[edit]

Mutations in this gene are associated with neurologic disorders, including 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. 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.[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 KP, 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. 273 (4): 2361–7. doi:10.1074/jbc.273.4.2361. PMID 9442082. 
  3. ^ Walker D, Bichet D, Geib S, Mori E, Cornet V, Snutch TP, 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. 274 (18): 12383–90. doi:10.1074/jbc.274.18.12383. PMID 10212211. 

Further reading[edit]

External links[edit]