Cav2.1

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Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Identifiers
Symbol(s) CACNA1A; APCA; CACNL1A4; CAV2.1; EA2; FHM; HPCA; MHP; MHP1; SCA6
External IDs OMIM: 601011 MGI109482 Homologene56383
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
Human Mouse
Entrez 773 12286
Ensembl ENSG00000141837 ENSMUSG00000034656
Uniprot O00555 Q2TPN3
Refseq NM_000068 (mRNA)
NP_000059 (protein)
XM_986985 (mRNA)
XP_992079 (protein)
Location Chr 19: 13.18 - 13.48 Mb Chr 8: 87.31 - 87.53 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]


References

Further reading

  • Terwindt G, Kors E, Haan J; et al. (2002). "Mutation analysis of the CACNA1A calcium channel subunit gene in 27 patients with sporadic hemiplegic migraine.". Arch. Neurol. 59 (6): 1016–8. PMID 12056940. 
  • Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J (2006). "International Union of Pharmacology. XLVIII. Nomenclature and structure-function relationships of voltage-gated calcium channels.". Pharmacol. Rev. 57 (4): 411–25. PMID 16382099. doi:10.1124/pr.57.4.5. 
  • Perez-Reyes E, Castellano A, Kim HS; et al. (1992). "Cloning and expression of a cardiac/brain beta subunit of the L-type calcium channel.". J. Biol. Chem. 267 (3): 1792–7. PMID 1370480. 
  • Barry EL, Viglione MP, Kim YI, Froehner SC (1995). "Expression and antibody inhibition of P-type calcium channels in human small-cell lung carcinoma cells.". J. Neurosci. 15 (1 Pt 1): 274–83. PMID 7823133. 
  • Joutel A, Bousser MG, Biousse V; et al. (1993). "A gene for familial hemiplegic migraine maps to chromosome 19.". Nat. Genet. 5 (1): 40–5. PMID 8220421. doi:10.1038/ng0993-40. 
  • Margolis RL, Breschel TS, Li SH; et al. (1996). "Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain.". Somat. Cell Mol. Genet. 21 (4): 279–84. PMID 8525433. 
  • Rettig J, Sheng ZH, Kim DK; et al. (1996). "Isoform-specific interaction of the alpha1A subunits of brain Ca2+ channels with the presynaptic proteins syntaxin and SNAP-25.". Proc. Natl. Acad. Sci. U.S.A. 93 (14): 7363–8. PMID 8692999. 
  • Diriong S, Lory P, Williams ME; et al. (1997). "Chromosomal localization of the human genes for alpha 1A, alpha 1B, and alpha 1E voltage-dependent Ca2+ channel subunits.". Genomics. 30 (3): 605–9. PMID 8825650. doi:10.1006/geno.1995.1284. 
  • Ophoff RA, Terwindt GM, Vergouwe MN; et al. (1996). "Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4.". Cell. 87 (3): 543–52. PMID 8898206. 
  • Zhuchenko O, Bailey J, Bonnen P; et al. (1997). "Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.". Nat. Genet. 15 (1): 62–9. PMID 8988170. doi:10.1038/ng0197-62. 
  • De Waard M, Liu H, Walker D; et al. (1997). "Direct binding of G-protein betagamma complex to voltage-dependent calcium channels.". Nature. 385 (6615): 446–50. PMID 9009193. doi:10.1038/385446a0. 
  • Qin N, Platano D, Olcese R; et al. (1997). "Direct interaction of gbetagamma with a C-terminal gbetagamma-binding domain of the Ca2+ channel alpha1 subunit is responsible for channel inhibition by G protein-coupled receptors.". Proc. Natl. Acad. Sci. U.S.A. 94 (16): 8866–71. PMID 9238069. 
  • Riess O, Schöls L, Bottger H; et al. (1997). "SCA6 is caused by moderate CAG expansion in the alpha1A-voltage-dependent calcium channel gene.". Hum. Mol. Genet. 6 (8): 1289–93. PMID 9259275. 
  • Jodice C, Mantuano E, Veneziano L; et al. (1998). "Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.". Hum. Mol. Genet. 6 (11): 1973–8. PMID 9302278. 
  • Charvin N, L'evêque C, Walker D; et al. (1997). "Direct interaction of the calcium sensor protein synaptotagmin I with a cytoplasmic domain of the alpha1A subunit of the P/Q-type calcium channel.". EMBO J. 16 (15): 4591–6. PMID 9303303. doi:10.1093/emboj/16.15.4591. 
  • Ishikawa K, Tanaka H, Saito M; et al. (1997). "Japanese families with autosomal dominant pure cerebellar ataxia map to chromosome 19p13.1-p13.2 and are strongly associated with mild CAG expansions in the spinocerebellar ataxia type 6 gene in chromosome 19p13.1.". Am. J. Hum. Genet. 61 (2): 336–46. PMID 9311738. 
  • Walker D, Bichet D, Campbell KP, De Waard M (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. PMID 9442082. 
  • Yue Q, Jen JC, Thwe MM; et al. (1998). "De novo mutation in CACNA1A caused acetazolamide-responsive episodic ataxia.". Am. J. Med. Genet. 77 (4): 298–301. PMID 9600739. 
  • Hans M, Urrutia A, Deal C; et al. (1999). "Structural elements in domain IV that influence biophysical and pharmacological properties of human alpha1A-containing high-voltage-activated calcium channels.". Biophys. J. 76 (3): 1384–400. PMID 10049321. 
  • Walker D, Bichet D, Geib S; et al. (1999). "A new beta subtype-specific interaction in alpha1A subunit controls P/Q-type Ca2+ channel activation.". J. Biol. Chem. 274 (18): 12383–90. PMID 10212211. 
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External links

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