Cacna1s - calcium channel, voltage-dependent, L type, alpha 1S subunit Gene

Mus musculus

Also known as sj; fmd; mdg; DHPR; Cav1.1; Cchl1a3; DHPR alpha1s

Gene ID: 12292 | Gene type: protein coding

About Cacna1s

Summary

Enables voltage-gated Calcium Channel activity. Acts upstream of or within several processes, including extraocular skeletal muscle development; myotube differentiation; and skeletal muscle adaptation. Located in T-tubule and sarcoplasmic reticulum. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and skeletal musculature. Used to study hypokalemic periodic paralysis. Human ortholog(s) of this gene implicated in hypokalemic periodic paralysis and malignant hyperthermia. Orthologous to human CACNA1S (calcium voltage-gated channel subunit alpha1 S). [provided by Alliance of Genome Resources, Apr 2022]

Cacna1s Products(3)

mRNA	Protein	Name
NM_001081023.3	NP_001074492.1	voltage-dependent L-type calcium channel subunit alpha-1S isoform 2
NM_001402949.1	NP_001389878.1	voltage-dependent L-type calcium channel subunit alpha-1S isoform 3
NM_014193.4	NP_055008.2	voltage-dependent L-type calcium channel subunit alpha-1S isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables voltage-gated calcium channel activity	IDA IDA: Inferred from direct assay	12954602	MGI
enables voltage-gated calcium channel activity	IMP IMP: Inferred from mutant phenotype	9929471	MGI

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within calcium ion transport	IDA IDA: Inferred from direct assay	12954602	MGI
acts upstream of or within calcium ion transport	IMP IMP: Inferred from mutant phenotype	1663002	MGI
acts upstream of or within endoplasmic reticulum organization	IMP IMP: Inferred from mutant phenotype	5041196	MGI
acts upstream of or within extraocular skeletal muscle development	IMP IMP: Inferred from mutant phenotype	14618389	MGI
acts upstream of or within muscle cell development	IMP IMP: Inferred from mutant phenotype	5041196	MGI
acts upstream of or within muscle contraction	IDA IDA: Inferred from direct assay	8143864	MGI
acts upstream of or within muscle contraction	IMP IMP: Inferred from mutant phenotype	4738109	MGI
acts upstream of or within myoblast fusion	IMP IMP: Inferred from mutant phenotype	10949052	MGI
acts upstream of or within neuromuscular junction development	IMP IMP: Inferred from mutant phenotype	6692971	MGI
acts upstream of or within skeletal muscle adaptation	IMP IMP: Inferred from mutant phenotype	2419767	MGI
acts upstream of or within skeletal muscle fiber development	IDA IDA: Inferred from direct assay	8143864	MGI
acts upstream of or within skeletal muscle fiber development	IMP IMP: Inferred from mutant phenotype	289331	MGI
acts upstream of or within skeletal muscle tissue development	IMP IMP: Inferred from mutant phenotype	6500174	MGI
acts upstream of or within skeletal system development	IMP IMP: Inferred from mutant phenotype	6501560	MGI
acts upstream of or within striated muscle contraction	IMP IMP: Inferred from mutant phenotype	1281468	MGI

Cellular Component GO Annotation	Evidence	Reference	Source
located in T-tubule	IDA IDA: Inferred from direct assay	8943043	MGI
located in sarcoplasmic reticulum	IDA IDA: Inferred from direct assay	8943043	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names

Protein Names

voltage-dependent L-type calcium channel subunit alpha-1S

dihydropyridine receptor alpha 1S	muscle dysgenesis
voltage-gated calcium channel subunit alpha Cav1.1

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01800	CACNA1S Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS21234	Cacna1s Mouse Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Cacna1s	NCBI	NCBI:779

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