CACNA1c

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The correct title of this article is Cav1.2. It features superscript or subscript characters that are substituted or omitted because of technical limitations.
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 OMIM: 114205 MGI: 103013 HomoloGene: 55484
Orthologs
Human Mouse
Entrez 775 12288
Ensembl n/a ENSMUSG00000051331
Uniprot n/a Q0PCR4
Refseq NM_000719 (mRNA)
NP_000710 (protein)		 NM_009781 (mRNA)
NP_033911 (protein)
Location 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.12

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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. 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. PMID 10022083. 

External links

 This membrane protein-related article is a stub. You can help Wikipedia by expanding it.
v • d • e
Membrane transport protein: ion channels
Ca2+: Calcium channel
L-type/Cavα (1.1, 1.2, 1.3, 1.4) • N-type/Cavα2.2 • P-type/Cavα(2.1) • Q-type/Cavα2.1 • R-type/Cavα2.3 • T-type/Cavα(3.2)
α2δ-subunits (1, 2) • β-subunits (β1, β2, β3, β4) • γ-subunits (γ1, γ2, γ3, γ4)
Cation channels of sperm (1, 2, 3, 4)  • Two-pore channel (1, 2)
Ligand-gated
Na+: Sodium channel
Navα (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.8, 1.9, 7A) • Navβ (1, 2, 3, 4)
Other
K+: Potassium channel
Kvα1-6 (1.1, 1.2, 1.3, 1.4, 1.5, 1.6, 1.7, 1.10) • (2.1, 2.2) • (3.1, 3.2, 3.3, 3.4) • (4.1, 4.2, 4.3) • (5.1) • (6.1, 6.2, 6.3, 6.4)
Kvα7-12 (7.1, 7.2, 7.3, 7.4, 7.5) • (8.1, 8.2) • (9.1, 9.2, 9.3) • (10.1, 10.2) • (11.1/hERG, 11.2, 11.3) • (12.1, 12.2, 12.3)
Kvβ (1, 2, 3) • KCNIP (1, 2, 3, 4) • minK/ISK • minK/ISK-like • MiRP (1, 2, 3) • Shaker gene
BK channel (α1, β1, β2, β3, β4) • SK channel (SK1, SK2, SK3, SK4) • KCa (1.1, 2.1, 2.2, 2.3, 3.1, 4.1, 4.2, 5.1)
Kir (1.1, 2.1, 2.2, 2.3, 2.4) • GIRK/Kir (3.1, 3.2, 3.3, 3.4) • Kir (4.1, 4.2, 5.1, 6.1, 6.2, 7.1)
K2P (1, 2, 3, 4, 5, 6, 7, 9, 10, 12, 13, 15, 16, 17, 18)
M+: TRP cation channel
TRPA (1) • TRPC (1, 2, 3, 4, 4AP, 5, 6, 7) • TRPM (1, 2, 3, 4, 5, 6, 7, 8) • TRPML (1, 2, 3) • TRPP (1, 2) • TRPV (1, 2, 3, 4, 5, 6)
Cl-: Chloride channel
ANO1 • Bestrophin (1, 2)  • CFTR • CLCA (1, 2, 3, 4) • CLCN (1, 2, 3, 4, 5, 6, 7, KA, KB) • CLIC (1, 2, 3, 4, 5, 6, L1) • CLNS (1A, 1B)
Cyclic nucleotide-gated (FC)
α (1, 2, 3, 4) • β (1, 2, 3) • HCN (1, 2, 3, 4)
Porin
Other/general

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  • This page was last modified on 17 December 2008, at 15:22.

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