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Protein Page:
CACNA1S (human)

Overview
CACNA1S 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. Defects in CACNA1S are the cause of periodic paralysis hypokalemic type 1 (HOKPP1); also designated HYPOPP. HOKPP1 is an autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels. Defects in CACNA1S are the cause of malignant hyperthermia susceptibility type 5 (MHS5); an autosomal dominant disorder that is potentially lethal in susceptible individuals on exposure to commonly used inhalational anesthetics and depolarizing muscle relaxants. Defects in CACNA1S are the cause of susceptibility to thyrotoxic periodic paralysis type 1 (TTPP1). A sporadic muscular disorder characterized by episodic weakness and hypokalemia during a thyrotoxic state. It is clinically similar to hereditary hypokalemic periodic paralysis, except for the fact that hyperthyroidism is an absolute requirement for disease manifestation. The disease presents with recurrent episodes of acute muscular weakness of the four extremities that vary in severity from paresis to complete paralysis. Attacks are triggered by ingestion of a high carbohydrate load or strenuous physical activity followed by a period of rest. Thyrotoxic periodic paralysis can occur in association with any cause of hyperthyroidism, but is most commonly associated with Graves disease. Belongs to the calcium channel alpha-1 subunit (TC 1.A.1.11) family. CACNA1S subfamily. Note: This description may include information from UniProtKB.
Protein type: Channel, calcium; Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 1q32
Cellular Component: cytoplasm; I band; plasma membrane; T-tubule; voltage-gated calcium channel complex
Molecular Function: high voltage-gated calcium channel activity; voltage-gated calcium channel activity
Biological Process: calcium ion transport; muscle contraction
Disease: Hypokalemic Periodic Paralysis, Type 1; Malignant Hyperthermia, Susceptibility To, 5; Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Reference #:  Q13698 (UniProtKB)
Alt. Names/Synonyms: CAC1S; CACH1; CACN1; CACNA1S; CACNL1A3; calcium channel, L type, alpha 1 polypeptide, isoform 3 (skeletal muscle, hypokalemic periodic paralysis); Calcium channel, L type, alpha-1 polypeptide, isoform 3, skeletal muscle; calcium channel, voltage-dependent, L type, alpha 1S subunit; Cav1.1; CCHL1A3; dihydropyridine receptor; dihydropyridine-sensitive L-type calcium channel alpha-1 subunit; HOKPP; hypoPP; MHS5; TTPP1; Voltage-dependent L-type calcium channel subunit alpha-1S; Voltage-gated calcium channel subunit alpha Cav1.1
Gene Symbols: CACNA1S
Molecular weight: 212,350 Da
Basal Isoelectric point: 6.17  Predict pI for various phosphorylation states
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CACNA1S

Protein Structure Not Found.
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