RYR1 Calcium channel that mediates the release of Ca(2+) from the sarcoplasmic reticulum into the cytoplasm and thereby plays a key role in triggering muscle contraction following depolarization of T-tubules. Repeated very high-level exercise increases the open probability of the channel and leads to Ca(2+) leaking into the cytoplasm. Can also 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 embryonic development of muscle fibers and skeletal muscle. Required for normal heart morphogenesis, skin development and ossification during embryogenesis. Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily. Skeletal muscle and brain (cerebellum and hippocampus). 3 alternatively spliced human isoforms have been reported. 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:  calcium channel complex; cell cortex; cytoplasm; I band; junctional sarcoplasmic reticulum membrane; organelle membrane; plasma membrane; ryanodine receptor complex; sarcolemma; sarcoplasmic reticulum; sarcoplasmic reticulum membrane; smooth endoplasmic reticulum; terminal cisterna; Z disc
Molecular Function:  ATP binding; calcium channel activity; calcium ion binding; calcium-induced calcium release activity; calcium-release channel activity; calmodulin binding; ryanodine-sensitive calcium-release channel activity; voltage-gated calcium channel activity
Biological Process:  calcium ion transport; cellular response to caffeine; cellular response to calcium ion; muscle contraction; ossification involved in bone maturation; outflow tract morphogenesis; 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; striated muscle contraction
Disease: Central Core Disease Of Muscle; King-denborough Syndrome; Malignant Hyperthermia, Susceptibility To, 1; Minicore Myopathy With External Ophthalmoplegia
Reference #:  P21817 (UniProtKB)
Alt. Names/Synonyms: CCO; central core disease of muscle; MHS; MHS1; PPP1R137; protein phosphatase 1, regulatory subunit 137; 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 ryanodine receptor; 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, siRNAs or Recombinant Proteins from Cell Signaling Technology® Total Proteins
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RYR1

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  cBioPortal  |  Wikipedia  |  Reactome  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Pfam  |  RCSB PDB  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene  |  Ensembl Protein