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Gene Ontology Classifications
calcium channel, voltage-dependent, L type, alpha 1S subunit

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GO curators for mouse genes have assigned the following annotations to the gene product of Cacna1s. (This text reflects annotations as of Tuesday, May 26, 2015.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of May 17, 2007. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.
Summary from NCBI RefSeq

[Summary is not available for the mouse gene. This summary is for the human ortholog.] 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. [provided by RefSeq, Jul 2008]
Summary text based on GO annotations supported by experimental evidence in mouse
Summary text based on GO annotations supported by experimental evidence in other organisms
Summary text based on GO annotations supported by structural data
Summary text for additional MGI annotations
  1. Ashby PR et al. (1993) Regulation of myogenesis in paralyzed muscles in the mouse mutants peroneal muscular atrophy and muscular dysgenesis. Dev Biol, 156:529-36. (PubMed:8462749)
  2. Atchley WR et al. (1984) Effects of the muscular dysgenesis gene on developmental stability in the mouse mandible. J Craniofac Genet Dev Biol, 4:179-89. (PubMed:6501560)
  3. Beam KG et al. (1986) A lethal mutation in mice eliminates the slow calcium current in skeletal muscle cells. Nature, 320:168-70. (PubMed:2419767)
  4. Chaudhari N. (1992) A single nucleotide deletion in the skeletal muscle-specific calcium channel transcript of muscular dysgenesis (mdg) mice. J Biol Chem, 267:25636-9. (PubMed:1281468)
  5. Conklin MW et al. (1999) Ca2+ sparks in embryonic mouse skeletal muscle selectively deficient in dihydropyridine receptor alpha1S or beta1a subunits. Biophys J, 76:657-69. (PubMed:9929471)
  6. Flucher BE et al. (1999) Type 3 and type 1 ryanodine receptors are localized in triads of the same mammalian skeletal muscle fibers. J Cell Biol, 146:621-30. (PubMed:10444070)
  7. Gregg RG et al. (1996) Absence of the beta subunit (cchb1) of the skeletal muscle dihydropyridine receptor alters expression of the alpha 1 subunit and eliminates excitation-contraction coupling. Proc Natl Acad Sci U S A, 93:13961-6. (PubMed:8943043)
  8. Heimann P et al. (2004) Elimination by necrosis, not apoptosis, of embryonic extraocular muscles in the muscular dysgenesis mutant of the mouse. Cell Tissue Res, 315:243-7. (PubMed:14618389)
  9. Joffroy S et al. (2000) Modification of mitochondrial metabolism in fibroblasts from mice with a skeletal muscle mutation (muscular dysgenesis). Evidence of embryonic communication between myoblasts and fibroblasts. Differentiation, 65:261-70. (PubMed:10929205)
  10. Joffroy S et al. (2000) M-calpain levels increase during fusion of myoblasts in the mutant muscular dysgenesis (mdg) mouse. Int J Dev Biol, 44:421-8. (PubMed:10949052)
  11. Obermair GJ et al. (2005) The Ca2+ channel alpha2delta-1 subunit determines Ca2+ current kinetics in skeletal muscle but not targeting of alpha1S or excitation-contraction coupling. J Biol Chem, 280:2229-37. (PubMed:15536090)
  12. Pai AC. (1965) Developmental genetics of a lethal mutation, muscular dysgenesis (mdg), in the mouse. II. Developmental analysis Dev Biol, 11:93-109. (PubMed:14300096)
  13. Pai AC. (1965) Developmental genetics of a lethal mutation, muscular dysgenesis (mdg), in the mouse. I. Genetic analysis and gross morphology. Dev Biol, 11:82-92. (PubMed:14300095)
  14. Peterson A et al. (1984) Relationship of genotype and in vitro contractility in mdg/mdg in equilibrium +/+ mosaic myotubes. Muscle Nerve, 7:194-203. (PubMed:6708965)
  15. Platzer AC et al. (1972) Fine structure of mutant (muscular dysgenesis) embryonic mouse muscle. Dev Biol, 28:242-52. (PubMed:5041196)
  16. Powell JA et al. (1973) Electrical properties of normal and dysgenic mouse skeletal muscle in culture. J Cell Physiol, 82:21-38. (PubMed:4738109)
  17. Powell JA et al. (1984) Neurons induce contractions in myotubes containing only muscular dysgenic nuclei. Muscle Nerve, 7:204-10. (PubMed:6708966)
  18. Powell JA et al. (1979) Tissue culture study of murine muscular dysgenesis: role of spontaneous action potential generation in the regulation of muscle maturation. Ann N Y Acad Sci, 317:550-70. (PubMed:289331)
  19. Powell JA et al. (1984) Distribution and quantification of ACh receptors and innervation in diaphragm muscle of normal and mdg mouse embryos. Dev Biol, 101:168-80. (PubMed:6692971)
  20. Rieger F et al. (1981) Muscle and nerve in muscular dysgenesis in the mouse at birth: sprouting and multiple innervation. Dev Biol, 87:85-101. (PubMed:7286424)
  21. Rieger F et al. (1984) Disease expression in +-/+- ----mdg/mdg mouse chimeras: evidence for an extramuscular component in the pathogenesis of both dysgenic abnormal diaphragm innervation and skeletal muscle 16 S acetylcholinesterase deficiency. Dev Biol, 106:296-306. (PubMed:6500174)
  22. Rieger F et al. (1984) Extensive nerve overgrowth and paucity of the tailed asymmetric form (16 S) of acetylcholinesterase in the developing skeletal neuromuscular system of the dysgenic (mdg/mdg) mouse. Dev Biol, 101:181-91. (PubMed:6692972)
  23. Seigneurin-Venin S et al. (1994) Restoration of normal ultrastructure after expression of the alpha 1 subunit of the L-type Ca2+ channel in dysgenic myotubes. FEBS Lett, 342:129-34. (PubMed:8143864)
  24. Shimahara T et al. (1991) Barium currents in developing skeletal muscle cells of normal and mutant mice foetuses with 'muscular dysgenesis'. Cell Calcium, 12:727-33. (PubMed:1663002)
  25. Shtifman A et al. (2004) Ca2+ influx through alpha1S DHPR may play a role in regulating Ca2+ release from RyR1 in skeletal muscle. Am J Physiol Cell Physiol, 286:C73-8. (PubMed:12954602)
  26. Varadi G et al. (1995) Endogenous cardiac Ca2+ channels do not overcome the E-C coupling defect in immortalized dysgenic muscle cells: evidence for a missing link. FEBS Lett, 368:405-10. (PubMed:7635187)

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Gene Ontology Evidence Code Abbreviations:

  EXP Inferred from experiment
  IAS Inferred from ancestral sequence
  IBA Inferred from biological aspect of ancestor
  IBD Inferred from biological aspect of descendant
  IC Inferred by curator
  IDA Inferred from direct assay
  IEA Inferred from electronic annotation
  IGI Inferred from genetic interaction
  IKR Inferred from key residues
  IMP Inferred from mutant phenotype
  IMR Inferred from missing residues
  IPI Inferred from physical interaction
  IRD Inferred from rapid divergence
  ISS Inferred from sequence or structural similarity
  ISO Inferred from sequence orthology
  ISA Inferred from sequence alignment
  ISM Inferred from sequence model
  NAS Non-traceable author statement
  ND No biological data available
  RCA Reviewed computational analysis
  TAS Traceable author statement


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