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Cav2.1: Wikis

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Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Identifiers
Symbols CACNA1A; APCA; CACNL1A4; CAV2.1; EA2; FHM; HPCA; MHP; MHP1; SCA6
External IDs OMIM601011 MGI109482 HomoloGene56383 IUPHAR: Cav2.1 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 Q2TPN3
RefSeq (mRNA) NM_000068 XM_986985
RefSeq (protein) NP_000059 XP_992079
Location (UCSC) 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]

Contents

Interactions

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

References

  1. ^ "Entrez Gene: CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=773.  
  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): 2361–7. 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): 12383–90. ISSN 0021-9258. PMID 10212211.  

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. doi:10.1001/archneur.59.6.1016. 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. doi:10.1124/pr.57.4.5. PMID 16382099.  
  • 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. doi:10.1038/ng0993-40. PMID 8220421.  
  • 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. doi:10.1007/BF02255782. 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. doi:10.1073/pnas.93.14.7363. 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. doi:10.1006/geno.1995.1284. PMID 8825650.  
  • 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. doi:10.1016/S0092-8674(00)81373-2. 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. doi:10.1038/ng0197-62. PMID 8988170.  
  • 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. doi:10.1038/385446a0. PMID 9009193.  
  • 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. doi:10.1073/pnas.94.16.8866. 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. doi:10.1093/hmg/6.8.1289. 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. doi:10.1093/hmg/6.11.1973. 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. doi:10.1093/emboj/16.15.4591. PMID 9303303.  
  • 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. doi:10.1086/514867. 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. doi:10.1074/jbc.273.4.2361. 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. doi:10.1002/(SICI)1096-8628(19980526)77:4<298::AID-AJMG9>3.0.CO;2-J. 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. doi:10.1016/S0006-3495(99)77300-5. 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. doi:10.1074/jbc.274.18.12383. PMID 10212211.  

External links

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