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RYR1 Calcium channel that controls communication between transverse-tubules and sarcoplasmic reticulum. Contraction of skeletal muscle is triggered by release of calcium ions from SR following depolarization of T-tubules. Can mediate the release of Ca(2+) from intracellular stores in neurons, and may thereby promote prolonged Ca(2+) signaling in the brain. Required for normal development of muscle fibers, skeletal muscle, heart morphogenesis, and skin development and ossification during embryogenesis. Defects in RYR1 are the cause of malignant hyperthermia susceptibility type 1 (MHS1) and central core disease of muscle (CCD). CCD is an autosomal dominant congenital myopathy, but a severe autosomal recessive form also exists. Defects in RYR1 are the cause of multiminicore disease with external ophthalmoplegia (MMDO), congenital myopathy with fiber-type disproportion (CFTD). Defects in RYR1 may be a cause of Samaritan myopathy, a congenital myopathy with benign course. Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily. 3 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Channel, calcium; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel
Chromosomal Location of Human Ortholog: 19q13.2
Cellular Component: cell cortex; cytoplasm; I band; integral component of plasma membrane; junctional membrane complex; plasma membrane; sarcoplasmic reticulum; sarcoplasmic reticulum membrane; smooth endoplasmic reticulum; T-tubule
Molecular Function: ATP binding; calcium channel activity; calcium ion binding; calcium-induced calcium release activity; calcium-release channel activity; calmodulin binding; protease binding; protein binding; ryanodine-sensitive calcium-release channel activity; voltage-gated calcium channel activity
Biological Process: calcium ion transport; muscle contraction; protein homotetramerization; regulation of cytosolic calcium ion concentration; release of sequestered calcium ion into cytosol; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; response to caffeine; response to hypoxia; skeletal muscle fiber development; skin development
Disease: Central Core Disease Of Muscle; Malignant Hyperthermia, Susceptibility To, 1; Minicore Myopathy With External Ophthalmoplegia; Myopathy, Congenital, With Fiber-type Disproportion
Reference #:  P21817 (UniProtKB)
Alt. Names/Synonyms: CCO; central core disease of muscle; MHS; MHS1; Ryanodine receptor 1; ryanodine receptor 1 (skeletal); ryanodine receptor type1; RYDR; RYR; RYR-1; RYR1; sarcoplasmic reticulum calcium release channel; Skeletal muscle calcium release channel; skeletal muscle ryanodine receptor; Skeletal muscle-type ryanodine receptor; SKRR; type 1-like ryanodine receptor
Gene Symbols: RYR1
Molecular weight: 565,176 Da
Basal Isoelectric point: 5.18  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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