Cav1.2

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

PDB rendering based on 2be6.
Identifiers
Symbols CACNA1C; CACH2; CACN2; CACNL1A1; CCHL1A1; CaV1.2; MGC120730; TS
External IDs OMIM: 114205 MGI: 103013 HomoloGene: 55484 IUPHAR: Cav1.2 GeneCards: CACNA1C Gene
Orthologs
Species Human Mouse
Entrez 775 12288
Ensembl ENSG00000151067 ENSMUSG00000051331
UniProt Q13936 Q0PCR4
RefSeq (mRNA) NM_000719.6 NM_009781
RefSeq (protein) NP_000710.5 NP_033911
Location (UCSC) Chr 12:
2.08 – 2.81 Mb		 Chr 6:
118.54 – 119.15 Mb
PubMed search [1] [2]

Calcium channel, voltage-dependent, L type, alpha 1C subunit (also known as Cav1.2) is a protein that in humans is encoded by the CACNA1C gene.[1] Cav1.2 is a subunit of L-type voltage-dependent calcium channel.[2]

Contents

Structure and function

This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. The protein encoded by this gene binds to and is inhibited by dihydropyridine.[3] In the arteries of the brain, high levels of calcium in mitochondria elevates activity of nuclear factor kappa B NF-κB and transcription of CACNA1c and functional Cav1.2 expression increases [4]. Cav1.2 also regulates levels of osteoprotegerin.[5]

Clinical significance

Mutation in the CACNA1C gene are associated with a variant of Long QT syndrome called Timothy's syndrome[6] and also with Brugada syndrome.[7] A large-scale genetic analysis conducted in 2008 shows the possibility that CACNA1C is associated with bipolar disorder [8] and subsequently also with schizophrenia [9] [10]

Interactive pathway map

Click on genes, proteins and metabolites below to link to respective Wikipedia articles. [11]

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Nicotine Activity on Chromaffin Cells edit

See also

References

  1. ^ Lacerda AE, Kim HS, Ruth P, Perez-Reyes E, Flockerzi V, Hofmann F, Birnbaumer L, Brown AM (August 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. 
  2. ^ Catterall WA, Perez-Reyes E, Snutch TP, Striessnig J (December 2005). "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. 
  3. ^ "Entrez Gene: , voltage-dependent, L type, alpha 1C subunit". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=775. 
  4. ^ Narayanan D, Xi Q, Pfeffer LM, Jaggar JH (September 2010). "Mitochondria control functional CaV1.2 expression in smooth muscle cells of cerebral arteries". Circ. Res. 107 (5): 631–41. doi:10.1161/CIRCRESAHA.110.224345. PMC 3050675. PMID 20616314. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=3050675. 
  5. ^ Bergh JJ, Xu Y, Farach-Carson MC (January 2004). "Osteoprotegerin expression and secretion are regulated by calcium influx through the L-type voltage-sensitive calcium channel". Endocrinology 145 (1): 426–36. doi:10.1210/en.2003-0319. PMID 14525906. 
  6. ^ Pagon RA, Bird TC, Dolan CR, Stephens K, Splawski I, Timothy KW, Priori SG, Napolitano C, Bloise R (1993). Timothy Syndrome. PMID 20301577. 
  7. ^ Hedley PL, Jørgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M (September 2009). "The genetic basis of Brugada syndrome: a mutation update". Hum. Mutat. 30 (9): 1256–66. doi:10.1002/humu.21066. PMID 19606473. 
  8. ^ Ferreira MA, O'Donovan MC, Meng YA, et al. (September 2008). "Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder". Nat. Genet. 40 (9): 1056–8. doi:10.1038/ng.209. PMC 2703780. PMID 18711365. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2703780. Lay summary – Schizophrenia Research Forum. 
  9. ^ Green EK, Grozeva D, Jones I, Jones L, Kirov G, Caesar S, Gordon-Smith K, Fraser C, Forty L, Russell E, Hamshere ML, Moskvina V, Nikolov I, Farmer A, McGuffin P, Holmans PA, Owen MJ, O'Donovan MC, Craddock N (October 2010). "The bipolar disorder risk allele at CACNA1C also confers risk of recurrent major depression and of schizophrenia". Mol. Psychiatry 15 (10): 1016–22. doi:10.1038/mp.2009.49. PMC 3011210. PMID 19621016. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=3011210. 
  10. ^ Curtis D, Vine AE, McQuillin A, Bass NJ, Pereira A, Kandaswamy R, Lawrence J, Anjorin A, Choudhury K, Datta SR, Puri V, Krasucki R, Pimm J, Thirumalai S, Quested D, Gurling HM (February 2011). "Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes". Psychiatr. Genet. 21 (1): 1–4. doi:10.1097/YPG.0b013e3283413382. PMC 3024533. PMID 21057379. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=3024533. 
  11. ^ The interactive pathway map can be edited at WikiPathways: "NicotineActivityonChromaffinCells_WP1603". http://www.wikipathways.org/index.php/Pathway:WP1603. 

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.