Cacna1s - calcium channel, voltage-dependent, L type, alpha 1S subunit Gene
Also Known as sj; fmd; mdg; DHPR; Cav1.1; Cchl1a3; DHPR alpha1s
Species: Mus musculus
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 |
| Molecular Function GO Annotation | Evidence | References | 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 |
| Cellular Component GO Annotation | Evidence | References | 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 |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
voltage-dependent L-type calcium channel subunit alpha-1S |
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