Cav1.1

Calcium channel, voltage-dependent, L type, alpha 1S subunit
Identifiers
Symbols	CACNA1S ; CACNL1A3; CCHL1A3; Cav1.1; HOKPP; MHS5; hypoPP
External IDs	Template:OMIM5 Template:MGI HomoloGene: 37257
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Ca_v1.1 also known as the calcium channel, voltage-dependent, L type, alpha 1S subunit, (CACNA1S), is a human gene.

This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility.

See also

• Calcium channel

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.CS1 maint: Multiple names: authors list (link)
• Rotman EI, De Jongh KS, Florio V; et al. (1992). "Specific phosphorylation of a COOH-terminal site on the full-length form of the alpha 1 subunit of the skeletal muscle calcium channel by cAMP-dependent protein kinase". J. Biol. Chem. 267 (23): 16100–5. PMID 1322891.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Röhrkasten A, Meyer HE, Nastainczyk W; et al. (1988). "cAMP-dependent protein kinase rapidly phosphorylates serine- 687 of the skeletal muscle receptor for calcium channel blockers". J. Biol. Chem. 263 (30): 15325–9. PMID 2844809.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Tanabe T, Takeshima H, Mikami A; et al. (1987). "Primary structure of the receptor for calcium channel blockers from skeletal muscle". Nature. 328 (6128): 313–8. doi:10.1038/328313a0. PMID 3037387.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hogan K, Powers PA, Gregg RG (1995). "Cloning of the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3)". Genomics. 24 (3): 608–9. doi:10.1006/geno.1994.1677. PMID 7713519.CS1 maint: Multiple names: authors list (link)
• Elbaz A, Vale-Santos J, Jurkat-Rott K; et al. (1995). "Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families". Am. J. Hum. Genet. 56 (2): 374–80. PMID 7847370.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Boerman RH, Ophoff RA, Links TP; et al. (1995). "Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis". J. Med. Genet. 32 (1): 44–7. PMID 7897626.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gregg RG, Couch F, Hogan K, Powers PA (1993). "Assignment of the human gene for the alpha 1 subunit of the skeletal muscle DHP-sensitive Ca2+ channel (CACNL1A3) to chromosome 1q31-q32". Genomics. 15 (1): 107–12. doi:10.1006/geno.1993.1017. PMID 7916735.CS1 maint: Multiple names: authors list (link)
• Jurkat-Rott K, Lehmann-Horn F, Elbaz A; et al. (1995). "A calcium channel mutation causing hypokalemic periodic paralysis". Hum. Mol. Genet. 3 (8): 1415–9. PMID 7987325.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ptácek LJ, Tawil R, Griggs RC; et al. (1994). "Dihydropyridine receptor mutations cause hypokalemic periodic paralysis". Cell. 77 (6): 863–8. PMID 8004673.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Drouet B, Garcia L, Simon-Chazottes D; et al. (1994). "The gene coding for the alpha 1 subunit of the skeletal dihydropyridine receptor (Cchl1a3 = mdg) maps to mouse chromosome 1 and human 1q32". Mamm. Genome. 4 (9): 499–503. PMID 8118099.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Iles DE, Segers B, Olde Weghuis D; et al. (1994). "Refined localization of the alpha 1-subunit of the skeletal muscle L-type voltage-dependent calcium channel (CACNL1A3) to human chromosome 1q32 by in situ hybridization". Genomics. 19 (3): 561–3. PMID 8188298.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• O'Brien RO, Taske NL, Hansbro PM; et al. (1996). "Exclusion of defects in the skeletal muscle specific regions of the DHPR alpha 1 subunit as frequent causes of malignant hyperthermia". J. Med. Genet. 32 (11): 913–4. PMID 8592342.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hogan K, Gregg RG, Powers PA (1997). "The structure of the gene encoding the human skeletal muscle alpha 1 subunit of the dihydropyridine-sensitive L-type calcium channel (CACNL1A3)". Genomics. 31 (3): 392–4. doi:10.1006/geno.1996.0066. PMID 8838325.CS1 maint: Multiple names: authors list (link)
• Robinson RL, Monnier N, Wolz W; et al. (1997). "A genome wide search for susceptibility loci in three European malignant hyperthermia pedigrees". Hum. Mol. Genet. 6 (6): 953–61. PMID 9175745.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Monnier N, Procaccio V, Stieglitz P, Lunardi J (1997). "Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle". Am. J. Hum. Genet. 60 (6): 1316–25. PMID 9199552.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Morrill JA, Brown RH, Cannon SC (1999). "Gating of the L-type Ca channel in human skeletal myotubes: an activation defect caused by the hypokalemic periodic paralysis mutation R528H". J. Neurosci. 18 (24): 10320–34. PMID 9852570.CS1 maint: Multiple names: authors list (link)
• Protasi F, Paolini C, Nakai J; et al. (2003). "Multiple regions of RyR1 mediate functional and structural interactions with alpha(1S)-dihydropyridine receptors in skeletal muscle". Biophys. J. 83 (6): 3230–44. PMID 12496092.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Carsana A, Fortunato G, De Sarno C; et al. (2003). "Identification of new polymorphisms in the CACNA1S gene". Clin. Chem. Lab. Med. 41 (1): 20–2. PMID 12636044.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• CACNA1S+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)

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