MGI:Cacna1s

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Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect	Notes
	GO:0001501	skeletal system development	MGI:MGI:56124 PMID:6501560^[1]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0002074	extraocular skeletal muscle development	MGI:MGI:3613415 PMID:14618389^[2]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0005216	ion channel activity	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0407	F	From MGI
	GO:0005244	voltage-gated ion channel activity	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0851	F	From MGI
	GO:0005245	voltage-gated calcium channel activity	MGI:MGI:3028707 PMID:12954602^[3]	IDA: Inferred from Direct Assay		F	From MGI
	GO:0005245	voltage-gated calcium channel activity	MGI:MGI:3609072 PMID:9929471^[4]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	F	From MGI
	GO:0005245	voltage-gated calcium channel activity	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q13698	F	From MGI
	GO:0005262	calcium channel activity	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0107	F	From MGI
	GO:0005737	cytoplasm	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q13698	C	From MGI
	GO:0005886	plasma membrane	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q13698	C	From MGI
	GO:0005891	voltage-gated calcium channel complex	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q13698	C	From MGI
	GO:0006810	transport	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0813	P	From MGI
	GO:0006811	ion transport	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0406	P	From MGI
	GO:0006816	calcium ion transport	MGI:MGI:3028707 PMID:12954602^[3]	IDA: Inferred from Direct Assay		P	From MGI
	GO:0006816	calcium ion transport	MGI:MGI:3609072 PMID:9929471^[4]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0006816	calcium ion transport	MGI:MGI:3691389 PMID:10929205^[5]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0006816	calcium ion transport	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q13698	P	From MGI
	GO:0006816	calcium ion transport	MGI:MGI:49177 PMID:1663002^[6]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0006936	muscle contraction	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q13698	P	From MGI
	GO:0006936	muscle contraction	MGI:MGI:53849 PMID:4738109^[7]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0006936	muscle contraction	MGI:MGI:55861 PMID:6708966^[8]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0006936	muscle contraction	MGI:MGI:63173 PMID:6708965^[9]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0006936	muscle contraction	MGI:MGI:66718 PMID:8143864^[10]	IDA: Inferred from Direct Assay		P	From MGI
	GO:0006941	striated muscle contraction	MGI:MGI:51975 PMID:1281468^[11]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0007029	endoplasmic reticulum organization	MGI:MGI:53761 PMID:5041196^[12]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0007519	skeletal muscle tissue development	MGI:MGI:52955 PMID:14300095^[13]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0007519	skeletal muscle tissue development	MGI:MGI:56113 PMID:6500174^[14]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0007519	skeletal muscle tissue development	MGI:MGI:63119 PMID:14300096^[15]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0007519	skeletal muscle tissue development	MGI:MGI:76166 PMID:7635187^[16]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0007520	myoblast fusion	MGI:MGI:3618019 PMID:10949052^[17]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0007528	neuromuscular junction development	MGI:MGI:55067 PMID:7286424^[18]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0007528	neuromuscular junction development	MGI:MGI:55766 PMID:6692971^[19]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0007528	neuromuscular junction development	MGI:MGI:55767 PMID:6692972^[20]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0008331	high voltage-gated calcium channel activity	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q13698	F	From MGI
	GO:0016021	integral to membrane	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0812	C	From MGI
	GO:0016529	sarcoplasmic reticulum	MGI:MGI:3028707 PMID:12954602^[3]	IDA: Inferred from Direct Assay		C	From MGI
	GO:0016529	sarcoplasmic reticulum	MGI:MGI:3529615 PMID:15536090^[21]	IDA: Inferred from Direct Assay		C	From MGI
	GO:0016529	sarcoplasmic reticulum	MGI:MGI:84458 PMID:8943043^[22]	IDA: Inferred from Direct Assay		C	From MGI
	GO:0030315	T-tubule	MGI:MGI:1342891 PMID:10444070^[23]	IDA: Inferred from Direct Assay		C	From MGI
	GO:0030315	T-tubule	MGI:MGI:3529615 PMID:15536090^[21]	IDA: Inferred from Direct Assay		C	From MGI
	GO:0030315	T-tubule	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q13698	C	From MGI
	GO:0030315	T-tubule	MGI:MGI:84458 PMID:8943043^[22]	IDA: Inferred from Direct Assay		C	From MGI
	GO:0031674	I band	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q13698	C	From MGI
	GO:0034765	regulation of ion transmembrane transport	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0851	P	From MGI
	GO:0043501	skeletal muscle adaptation	MGI:MGI:3616422 PMID:2419767^[24]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0048741	skeletal muscle fiber development	MGI:MGI:3630139 PMID:289331^[25]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0048741	skeletal muscle fiber development	MGI:MGI:53207 PMID:8462749^[26]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0048741	skeletal muscle fiber development	MGI:MGI:66718 PMID:8143864^[10]	IDA: Inferred from Direct Assay		P	From MGI
	GO:0051925	regulation of calcium ion transport via voltage-gated calcium channel activity	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q13698	P	From MGI
	GO:0055001	muscle cell development	MGI:MGI:53761 PMID:5041196^[12]	IMP: Inferred from Mutant Phenotype	MGI:MGI:1856326	P	From MGI
	GO:0070588	calcium ion transmembrane transport	MGI:MGI:1354194	IEA: Inferred from Electronic Annotation	UniProtKB-KW:KW-0107	P	From MGI
	GO:0070588	calcium ion transmembrane transport	MGI:MGI:4834177	ISO: Inferred from Sequence Orthology	UniProtKB:Q13698	P	From MGI
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ 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 GONUTS page
↑ 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 GONUTS page
↑ ^3.0 ^3.1 ^3.2 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 GONUTS page
↑ ^4.0 ^4.1 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 GONUTS page
↑ 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 GONUTS page
↑ Shimahara T & Bournaud R (1991) Barium currents in developing skeletal muscle cells of normal and mutant mice foetuses with 'muscular dysgenesis'. Cell Calcium 12: 727-33 PubMed GONUTS page
↑ Powell JA & Fambrough DM (1973) Electrical properties of normal and dysgenic mouse skeletal muscle in culture. J Cell Physiol 82: 21-38 PubMed GONUTS page
↑ Powell JA et al. (1984) Neurons induce contractions in myotubes containing only muscular dysgenic nuclei. Muscle Nerve 7: 204-10 PubMed GONUTS page
↑ Peterson A & Pena S (1984) Relationship of genotype and in vitro contractility in mdg/mdg in equilibrium +/+ "mosaic" myotubes. Muscle Nerve 7: 194-203 PubMed GONUTS page
↑ ^10.0 ^10.1 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 GONUTS page
↑ 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 GONUTS page
↑ ^12.0 ^12.1 Platzer AC & Gluecksohn-Waelsch S (1972) Fine structure of mutant (muscular dysgenesis) embryonic mouse muscle. Dev Biol 28: 242-52 PubMed GONUTS page
↑ 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 GONUTS page
↑ 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 GONUTS page
↑ PAI AC (1965) DEVELOPMENTAL GENETICS OF A LETHAL MUTATION, MUSCULAR DYSGENESIS (MDG), IN THE MOUSE. II. DEVELOPMENTAL ANALYSIS. Dev Biol 11: 93-109 PubMed GONUTS page
↑ 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 GONUTS page
↑ 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 GONUTS page
↑ Rieger F & Pinçon-Raymond M (1981) Muscle and nerve in muscular dysgenesis in the mouse at birth: sprouting and multiple innervation. Dev Biol 87: 85-101 PubMed GONUTS page
↑ 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 GONUTS page
↑ 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 GONUTS page
↑ ^21.0 ^21.1 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 GONUTS page
↑ ^22.0 ^22.1 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 GONUTS page
↑ 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 GONUTS page
↑ Beam KG et al. (1986) A lethal mutation in mice eliminates the slow calcium current in skeletal muscle cells. Nature 320: 168-70 PubMed GONUTS page
↑ 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 GONUTS page
↑ 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 GONUTS page

[PMID:6501560-0] 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 GONUTS page

[PMID:14618389-1] 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 GONUTS page

[PMID:12954602-2] 3.0 ^3.1 ^3.2 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 GONUTS page

[PMID:9929471-3] 4.0 ^4.1 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 GONUTS page

[PMID:10929205-4] 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 GONUTS page

[PMID:1663002-5] Shimahara T & Bournaud R (1991) Barium currents in developing skeletal muscle cells of normal and mutant mice foetuses with 'muscular dysgenesis'. Cell Calcium 12: 727-33 PubMed GONUTS page

[PMID:4738109-6] Powell JA & Fambrough DM (1973) Electrical properties of normal and dysgenic mouse skeletal muscle in culture. J Cell Physiol 82: 21-38 PubMed GONUTS page

[PMID:6708966-7] Powell JA et al. (1984) Neurons induce contractions in myotubes containing only muscular dysgenic nuclei. Muscle Nerve 7: 204-10 PubMed GONUTS page

[PMID:6708965-8] Peterson A & Pena S (1984) Relationship of genotype and in vitro contractility in mdg/mdg in equilibrium +/+ "mosaic" myotubes. Muscle Nerve 7: 194-203 PubMed GONUTS page

[PMID:8143864-9] 10.0 ^10.1 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 GONUTS page

[PMID:1281468-10] 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 GONUTS page

[PMID:5041196-11] 12.0 ^12.1 Platzer AC & Gluecksohn-Waelsch S (1972) Fine structure of mutant (muscular dysgenesis) embryonic mouse muscle. Dev Biol 28: 242-52 PubMed GONUTS page

[PMID:14300095-12] 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 GONUTS page

[PMID:6500174-13] 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 GONUTS page

[PMID:14300096-14] PAI AC (1965) DEVELOPMENTAL GENETICS OF A LETHAL MUTATION, MUSCULAR DYSGENESIS (MDG), IN THE MOUSE. II. DEVELOPMENTAL ANALYSIS. Dev Biol 11: 93-109 PubMed GONUTS page

[PMID:7635187-15] 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 GONUTS page

[PMID:10949052-16] 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 GONUTS page

[PMID:7286424-17] Rieger F & Pinçon-Raymond M (1981) Muscle and nerve in muscular dysgenesis in the mouse at birth: sprouting and multiple innervation. Dev Biol 87: 85-101 PubMed GONUTS page

[PMID:6692971-18] 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 GONUTS page

[PMID:6692972-19] 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 GONUTS page

[PMID:15536090-20] 21.0 ^21.1 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 GONUTS page

[PMID:8943043-21] 22.0 ^22.1 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 GONUTS page

[PMID:10444070-22] 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 GONUTS page

[PMID:2419767-23] Beam KG et al. (1986) A lethal mutation in mice eliminates the slow calcium current in skeletal muscle cells. Nature 320: 168-70 PubMed GONUTS page

[PMID:289331-24] 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 GONUTS page

[PMID:8462749-25] 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 GONUTS page

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Species (Taxon ID)	Mus musculus (house mouse) (taxon:10090)
Gene Name(s)	Cacna1s ( synonyms: Cav1.1, Cchl1a3, DHPR alpha1s, fmd, mdg, muscle dysgenesis, sj )
Protein Name(s)	calcium channel, voltage-dependent, L type, alpha 1S subunit,
External Links
MGI	MGI:88294

MGI:Cacna1s

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