| Gene Symbol |
CACNA1S
|
| Entrez Gene |
779
|
| Alt Symbol |
CACNL1A3, CCHL1A3, Cav1.1, HOKPP, HOKPP1, MHS5, TTPP1, hypoPP
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
calcium channel, voltage-dependent, L type, alpha 1S subunit
|
| Other Description |
calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis)|dihydropyridine receptor|dihydropyridine-sensitive L-type calcium channel alpha-1 subunit|voltage-dependent L-type calcium channel subunit alpha-1S|voltage-gated calcium channel subunit alpha Cav1.1
|
| Swissprots |
Q13934 A4IF51 Q12896 B1ALM2 Q13698
|
| Accessions |
AAB37235 EAW91333 EAW91334 EAW91335 Q13698 BC133671 AAI33672 L33798 AAA51902 U09784 AAA20531 U14413 AAC50397 U18986 AAC50398 XM_005245478 XP_005245535 NM_000069 NP_000060
|
| Function |
Voltage-sensitive calcium channels (VSCC) mediate the entry of calcium ions into excitable cells and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. The isoform alpha-1S gives rise to L-type calcium currents. Long-lasting (L-type) calcium channels belong to the 'high-voltage activated' (HVA) group. They are blocked by dihydropyridines (DHP), phenylalkylamines, benzothiazepines, and by omega-agatoxin-IIIA (omega-Aga-IIIA). They are however insensitive to omega-conotoxin- GVIA (omega-CTx-GVIA) and omega-agatoxin-IVA (omega-Aga-IVA). Calcium channels containing the alpha-1S subunit play an important role in excitation-contraction coupling in skeletal muscle.
|
| Subcellular Location |
Membrane; Multi-pass membrane protein.
|
| Tissue Specificity |
Skeletal muscle specific.
|
| Top Pathways |
Alzheimer's disease, Arrhythmogenic right ventricular cardiomyopathy (ARVC), cAMP signaling pathway, MAPK signaling pathway, Calcium signaling pathway
|
