Cav1.2
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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
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PDB rendering based on 2be6. | ||||||||||||||
Available structures: 2be6 | ||||||||||||||
Identifiers | ||||||||||||||
Symbol(s) | CACNA1C; CACH2; CACN2; CACNL1A1; CCHL1A1; CaV1.2; MGC120730; TS | |||||||||||||
External IDs | OMIM: 114205 MGI: 103013 HomoloGene: 55484 | |||||||||||||
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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) |
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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.
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[edit] See also
[edit] References
[edit] 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: . 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: . 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: . 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: . 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.
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