| 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 |