This page uses content from Wikipedia and is licensed under CC BY-SA.

Cav2.1

CACNA1A
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCACNA1A, APCA, BI, CACNL1A4, CAV2.1, EA2, FHM, HPCA, MHP, MHP1, SCA6, Cav2.1, calcium voltage-gated channel subunit alpha1 A, EIEE42
External IDsOMIM: 601011 MGI: 109482 HomoloGene: 56383 GeneCards: CACNA1A
Gene location (Human)
Chromosome 19 (human)
Chr.Chromosome 19 (human)[1]
Chromosome 19 (human)
Genomic location for CACNA1A
Genomic location for CACNA1A
Band19p13.13Start13,206,442 bp[1]
End13,633,025 bp[1]
RNA expression pattern
PBB GE CACNA1A 214933 at fs.png

PBB GE CACNA1A 206399 x at fs.png

PBB GE CACNA1A 210770 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
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
NP_001120693
NP_001120694
NP_001167551
NP_075461

NP_001238988
NP_001238989
NP_001238990
NP_031604

Location (UCSC)Chr 19: 13.21 – 13.63 MbChr 8: 84.34 – 84.64 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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

Mutations in this gene are associated with neurologic disorders, including familial hemiplegic migraine and episodic ataxia 2. One particular mutation (S218L) which is associated with hemiplegic migraine, ataxia, and seizures, may also confer a vulnerability to life-threatening cerebral edema after a minor head injury.[5]

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.[6]

Interactions

Cav2.1 has been shown to interact with CACNB4.[7][8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000141837 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034656 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Stam AH, Luijckx GJ, Poll-Thé BT, Ginjaar IB, Frants RR, Haan J, Ferrari MD, Terwindt GM, van den Maagdenberg AM (2009). "Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation". J Neurol Neurosurg Psychiatry. 80 (10): 1125–1129. doi:10.1136/jnnp.2009.177279. PMID 19520699.
  6. ^ "Entrez Gene: CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit".
  7. ^ 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.
  8. ^ 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

External links