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Calcium channel, voltage-dependent, L type, alpha 1C subunit

PDB rendering based on 2be6.
Available structures
2be6
Identifiers
Symbols CACNA1C; CACH2; CACN2; CACNL1A1; CCHL1A1; CaV1.2; MGC120730; TS
External IDs OMIM114205 MGI103013 HomoloGene55484 IUPHAR: Cav1.2 GeneCards: CACNA1C Gene
Orthologs
Species Human Mouse
Entrez 775 12288
Ensembl n/a ENSMUSG00000051331
UniProt n/a Q0PCR4
RefSeq (mRNA) NM_000719 NM_009781
RefSeq (protein) NP_000710 NP_033911
Location (UCSC) n/a Chr 6:
118.56 - 119.02 Mb
PubMed search [1] [2]

Calcium channel, voltage-dependent, L type, alpha 1C subunit (also known as Cav1.2) is a subunit of L-type voltage-dependent calcium channel encoded by the CACNA1C gene, mutation in which are associated with a variant of Long QT syndrome called Timothy's syndrome and also with Brugada syndrome. A large-scale genetic analysis conducted in 2008 shows the possibility that CACNA1C is associated with bipolar disorder.[1][2]

Contents

See also

References

  1. ^ Ferreira MAR and 62 others. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat. Genet., published online 17 August, 2008.
  2. ^ Channeling Mental Illness: GWAS Links Ion Channels, Bipolar Disorder - 19 aug 2008, Schizophrenia Research Forum, covered by Peter Farley

Further reading

  • 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.  
  • Soldatov NM (1992). "Molecular diversity of L-type Ca2+ channel transcripts in human fibroblasts.". Proc. Natl. Acad. Sci. U.S.A. 89 (10): 4628–32. doi:10.1073/pnas.89.10.4628. PMID 1316612.  
  • Powers PA, Gregg RG, Hogan K (1992). "Linkage mapping of the human gene for the alpha 1 subunit of the cardiac DHP-sensitive Ca2+ channel (CACNL1A1) to chromosome 12p13.2-pter using a dinucleotide repeat.". Genomics 14 (1): 206–7. doi:10.1016/S0888-7543(05)80312-X. PMID 1330882.  
  • Sun W, McPherson JD, Hoang DQ, et al. (1993). "Mapping of a human brain voltage-gated calcium channel to human chromosome 12p13-pter.". Genomics 14 (4): 1092–4. doi:10.1016/S0888-7543(05)80135-1. PMID 1335957.  
  • Lacerda AE, Kim HS, Ruth P, et al. (1991). "Normalization of current kinetics by interaction between the alpha 1 and beta subunits of the skeletal muscle dihydropyridine-sensitive Ca2+ channel.". Nature 352 (6335): 527–30. doi:10.1038/352527a0. PMID 1650913.  
  • Powers PA, Gregg RG, Lalley PA, et al. (1991). "Assignment of the human gene for the alpha 1 subunit of the cardiac DHP-sensitive Ca2+ channel (CCHL1A1) to chromosome 12p12-pter.". Genomics 10 (3): 835–9. doi:10.1016/0888-7543(91)90471-P. PMID 1653763.  
  • Perez-Reyes E, Wei XY, Castellano A, Birnbaumer L (1990). "Molecular diversity of L-type calcium channels. Evidence for alternative splicing of the transcripts of three non-allelic genes.". J. Biol. Chem. 265 (33): 20430–6. PMID 2173707.  
  • Soldatov NM, Bouron A, Reuter H (1995). "Different voltage-dependent inhibition by dihydropyridines of human Ca2+ channel splice variants.". J. Biol. Chem. 270 (18): 10540–3. doi:10.1074/jbc.270.18.10540. PMID 7737988.  
  • Soldatov NM (1994). "Genomic structure of human L-type Ca2+ channel.". Genomics 22 (1): 77–87. doi:10.1006/geno.1994.1347. PMID 7959794.  
  • Tang S, Mikala G, Bahinski A, et al. (1993). "Molecular localization of ion selectivity sites within the pore of a human L-type cardiac calcium channel.". J. Biol. Chem. 268 (18): 13026–9. PMID 8099908.  
  • Schultz D, Mikala G, Yatani A, et al. (1993). "Cloning, chromosomal localization, and functional expression of the alpha 1 subunit of the L-type voltage-dependent calcium channel from normal human heart.". Proc. Natl. Acad. Sci. U.S.A. 90 (13): 6228–32. doi:10.1073/pnas.90.13.6228. PMID 8392192.  
  • Perets T, Blumenstein Y, Shistik E, et al. (1996). "A potential site of functional modulation by protein kinase A in the cardiac Ca2+ channel alpha 1C subunit.". FEBS Lett. 384 (2): 189–92. doi:10.1016/0014-5793(96)00303-1. PMID 8612821.  
  • Andersson B, Wentland MA, Ricafrente JY, et al. (1996). "A "double adaptor" method for improved shotgun library construction.". Anal. Biochem. 236 (1): 107–13. doi:10.1006/abio.1996.0138. PMID 8619474.  
  • Soldatov NM, Zühlke RD, Bouron A, Reuter H (1997). "Molecular structures involved in L-type calcium channel inactivation. Role of the carboxyl-terminal region encoded by exons 40-42 in alpha1C subunit in the kinetics and Ca2+ dependence of inactivation.". J. Biol. Chem. 272 (6): 3560–6. doi:10.1074/jbc.272.6.3560. PMID 9013606.  
  • Klöckner U, Mikala G, Eisfeld J, et al. (1997). "Properties of three COOH-terminal splice variants of a human cardiac L-type Ca2+-channel alpha1-subunit.". Am. J. Physiol. 272 (3 Pt 2): H1372–81. PMID 9087614.  
  • Yu W, Andersson B, Worley KC, et al. (1997). "Large-scale concatenation cDNA sequencing.". Genome Res. 7 (4): 353–8. PMID 9110174.  
  • Gao T, Yatani A, Dell'Acqua ML, et al. (1997). "cAMP-dependent regulation of cardiac L-type Ca2+ channels requires membrane targeting of PKA and phosphorylation of channel subunits.". Neuron 19 (1): 185–96. doi:10.1016/S0896-6273(00)80358-X. PMID 9247274.  
  • Zühlke RD, Bouron A, Soldatov NM, Reuter H (1998). "Ca2+ channel sensitivity towards the blocker isradipine is affected by alternative splicing of the human alpha1C subunit gene.". FEBS Lett. 427 (2): 220–4. doi:10.1016/S0014-5793(98)00425-6. PMID 9607315.  
  • Meyers MB, Puri TS, Chien AJ, et al. (1998). "Sorcin associates with the pore-forming subunit of voltage-dependent L-type Ca2+ channels.". J. Biol. Chem. 273 (30): 18930–5. doi:10.1074/jbc.273.30.18930. PMID 9668070.  
  • Liu WS, Soldatov NM, Gustavsson I, Chowdhary BP (1999). "Fiber-FISH analysis of the 3'-terminal region of the human L-type Ca2+ channel alpha 1C subunit gene.". Hereditas 129 (2): 169–75. doi:10.1111/j.1601-5223.1998.00169.x. PMID 10022083.  

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