Ryanodine Receptor 1, Skeletal (RYR1)

CCO; MHS; MHS1; RYDR; RYR; SKRR; Central Core Disease Of Muscle; Skeletal muscle calcium release channel

SPN	U084
HGNC	10483
MGI	99659
PubMed	19191333
RGD	1586637
UniProt	P21817
Wiki	RYR1

Ryanodine receptor 1 is a ryanodine receptor found in skeletal muscle. The encoded protein functions as a calcium release channel in the sarcoplasmic reticulum but also serves to connect the sarcoplasmic reticulum and transverse tubule. Mutations in this gene are associated with malignant hyperthermia susceptibility, central core disease, and minicore myopathy with external ophthalmoplegia. Alternatively spliced transcripts encoding different isoforms have been described.

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.Skeletal muscle and brain (cerebellum and hippocampus).

Reference

"Molecular cloning of cDNA encoding human and rabbit forms of the Ca2+ release channel (ryanodine receptor) of skeletal muscle sarcoplasmic reticulum."
J. Biol. Chem. 265:2244-2256(1990) [PubMed] [Europe PMC] [Abstract]

"Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia."
Genomics 13:1247-1254(1992) [PubMed] [Europe PMC] [Abstract]

"A mutation in the human ryanodine receptor gene associated with central core disease."
Nat. Genet. 5:46-50(1993) [PubMed] [Europe PMC] [Abstract]

"The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene."
Genomics 34:24-41(1996) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence and biology of human chromosome 19."
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]

"Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia."
Genomics 13:835-837(1992) [PubMed] [Europe PMC] [Abstract]

"A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia."
Genomics 11:751-755(1991) [PubMed] [Europe PMC] [Abstract]

"Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility."
J. Neurol. 242:127-133(1995) [PubMed] [Europe PMC] [Abstract]

"Isolation and partial cloning of ryanodine-sensitive Ca2+ release channel protein isoforms from human myometrial smooth muscle."
FEBS Lett. 372:6-12(1995) [PubMed] [Europe PMC] [Abstract]

"Partial cloning and differential expression of ryanodine receptor/calcium-release channel genes in human tissues including the hippocampus and cerebellum."
Neuroscience 85:205-216(1998) [PubMed] [Europe PMC] [Abstract]

"Cysteine-3635 is responsible for skeletal muscle ryanodine receptor modulation by NO."
Proc. Natl. Acad. Sci. U.S.A. 98:11158-11162(2001) [PubMed] [Europe PMC] [Abstract]

"S100A1 and calmodulin compete for the same binding site on ryanodine receptor."
J. Biol. Chem. 283:26676-26683(2008) [PubMed] [Europe PMC] [Abstract]

"Remodeling of ryanodine receptor complex causes 'leaky' channels: a molecular mechanism for decreased exercise capacity."
Proc. Natl. Acad. Sci. U.S.A. 105:2198-2202(2008) [PubMed] [Europe PMC] [Abstract]

"Large-scale phosphoproteome analysis of human liver tissue by enrichment and fractionation of phosphopeptides with strong anion exchange chromatography."
Proteomics 8:1346-1361(2008) [PubMed] [Europe PMC] [Abstract]

"Ryanodine receptors: structure, expression, molecular details, and function in calcium release."
Cold Spring Harb. Perspect. Biol. 2:E3996-E3996(2010) [PubMed] [Europe PMC] [Abstract]

"Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation."
Acta Neuropathol. 124:575-581(2012) [PubMed] [Europe PMC] [Abstract]

"Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia."
Nat. Genet. 5:51-55(1993) [PubMed] [Europe PMC] [Abstract]

"Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores."
Genomics 23:236-239(1994) [PubMed] [Europe PMC] [Abstract]

"Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies."
Hum. Mol. Genet. 3:471-476(1994) [PubMed] [Europe PMC] [Abstract]

"Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees."
Hum. Mol. Genet. 3:1855-1858(1994) [PubMed] [Europe PMC] [Abstract]

"The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia."
Hum. Mol. Genet. 3:2181-2186(1994) [PubMed] [Europe PMC] [Abstract]

"Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred."
Anesthesiology 86:620-626(1997) [PubMed] [Europe PMC] [Abstract]

"Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia."
Br. J. Anaesth. 79:332-337(1997) [PubMed] [Europe PMC] [Abstract]

"Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes."
J. Med. Genet. 34:291-296(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of novel mutations in the ryanodine-receptor gene (RYR1) in malignant hyperthermia: genotype-phenotype correlation."
Am. J. Hum. Genet. 62:599-609(1998) [PubMed] [Europe PMC] [Abstract]

"Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia."
Hum. Mutat. 11:45-50(1998) [PubMed] [Europe PMC] [Abstract]

"Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test."
Hum. Mol. Genet. 8:2055-2062(1999) [PubMed] [Europe PMC] [Abstract]

"Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families."
J. Med. Genet. 36:115-118(1999) [PubMed] [Europe PMC] [Abstract]

"A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca(2+) release channel function and severe central core disease."
Proc. Natl. Acad. Sci. U.S.A. 96:4164-4169(1999) [PubMed] [Europe PMC] [Abstract]

"Malignant hyperthermia in infancy and identification of novel RYR1 mutation."
Br. J. Anaesth. 84:500-504(2000) [PubMed] [Europe PMC] [Abstract]

"A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree."
Hum. Mol. Genet. 9:1515-1524(2000) [PubMed] [Europe PMC] [Abstract]

"Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia."
Hum. Mutat. 15:122-122(2000) [PubMed] [Europe PMC] [Abstract]

"A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy."
Neurology 55:1689-1696(2000) [PubMed] [Europe PMC] [Abstract]

"Single-amino-acid deletion in the RYR1 gene, associated with malignant hyperthermia susceptibility and unusual contraction phenotype."
Am. J. Hum. Genet. 69:204-208(2001) [PubMed] [Europe PMC] [Abstract]

"North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations."
Anesthesiology 95:594-599(2001) [PubMed] [Europe PMC] [Abstract]

"Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor."
Hum. Mol. Genet. 10:2581-2592(2001) [PubMed] [Europe PMC] [Abstract]

"Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis."
Hum. Mol. Genet. 10:2879-2887(2001) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel mutation in the ryanodine receptor gene (RYR1) in patients with malignant hyperthermia."
Hum. Mutat. 17:238-238(2001) [PubMed] [Europe PMC] [Abstract]

"Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families."
Neuromuscul. Disord. 11:530-537(2001) [PubMed] [Europe PMC] [Abstract]

"Mutation screening in the ryanodine receptor 1 gene (RYR1) in patients susceptible to malignant hyperthermia who show definite IVCT results: identification of three novel mutations."
Acta Anaesthesiol. Scand. 46:692-698(2002) [PubMed] [Europe PMC] [Abstract]

"Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility."
Anesthesiology 97:1067-1074(2002) [PubMed] [Europe PMC] [Abstract]

"A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene."
Ann. Neurol. 51:750-759(2002) [PubMed] [Europe PMC] [Abstract]

"Malignant hyperthermia associated with exercise-induced rhabdomyolysis or congenital abnormalities and a novel RYR1 mutation in New Zealand and Australian pedigrees."
Br. J. Anaesth. 88:508-515(2002) [PubMed] [Europe PMC] [Abstract]

"Mutations in the RYR1 gene in Italian patients at risk for malignant hyperthermia: evidence for a cluster of novel mutations in the C-terminal region."
Cell Calcium 32:143-151(2002) [PubMed] [Europe PMC] [Abstract]

"Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia."
Clin. Genet. 62:80-83(2002) [PubMed] [Europe PMC] [Abstract]

"Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients."
Jpn. J. Pharmacol. 88:159-166(2002) [PubMed] [Europe PMC] [Abstract]

"Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores."
Neurology 59:284-287(2002) [PubMed] [Europe PMC] [Abstract]

"Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript."
Anesthesiology 99:297-302(2003) [PubMed] [Europe PMC] [Abstract]

"Central core disease: clinical, pathological, and genetic features."
Arch. Dis. Child. 88:1051-1055(2003) [PubMed] [Europe PMC] [Abstract]

"Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia."
Brain 126:2341-2349(2003) [PubMed] [Europe PMC] [Abstract]

"Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles."
Clin. Chem. 49:761-768(2003) [PubMed] [Europe PMC] [Abstract]

"Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor."
Hum. Mol. Genet. 12:379-388(2003) [PubMed] [Europe PMC] [Abstract]

"A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia."
Hum. Mol. Genet. 12:1171-1178(2003) [PubMed] [Europe PMC] [Abstract]

"Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene."
Neuromuscul. Disord. 13:151-157(2003) [PubMed] [Europe PMC] [Abstract]

"Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene."
Anesthesiology 101:824-830(2004) [PubMed] [Europe PMC] [Abstract]

"Multiminicore disease in a family susceptible to malignant hyperthermia: histology, in vitro contracture tests, and genetic characterization."
Arch. Neurol. 61:106-113(2004) [PubMed] [Europe PMC] [Abstract]

"RYR1 mutations in UK central core disease patients: more than just the C-terminal transmembrane region of the RYR1 gene."
J. Med. Genet. 41:E33-E33(2004) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of two patients with hypokalemic periodic paralysis and suspected malignant hyperthermia."
Muscle Nerve 30:114-117(2004) [PubMed] [Europe PMC] [Abstract]

"Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility."
Hum. Mutat. 26:413-425(2005) [PubMed] [Europe PMC] [Abstract]

"Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene."
Neurology 65:1930-1935(2005) [PubMed] [Europe PMC] [Abstract]

"Inheritance of a novel RYR1 mutation in a family with myotonic dystrophy type 1."
Clin. Genet. 71:93-94(2007) [PubMed] [Europe PMC] [Abstract]

"Central core disease due to recessive mutations in RYR1 gene: is it more common than described?"
Muscle Nerve 35:670-674(2007) [PubMed] [Europe PMC] [Abstract]

"Novel RYR1 missense mutation causes core rod myopathy."
Eur. J. Neurol. 15:E31-E32(2008) [PubMed] [Europe PMC] [Abstract]

"Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores."
Hum. Mutat. 29:670-678(2008) [PubMed] [Europe PMC] [Abstract]

"Increasing the number of diagnostic mutations in malignant hyperthermia."
Hum. Mutat. 30:590-598(2009) [PubMed] [Europe PMC] [Abstract]

"Functional properties of RYR1 mutations identified in Swedish patients with malignant hyperthermia and central core disease."
Anesth. Analg. 111:185-190(2010) [PubMed] [Europe PMC] [Abstract]

"Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion."
Hum. Mutat. 31:E1544-E1550(2010) [PubMed] [Europe PMC] [Abstract]

"Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families."
Clin. Genet. 79:438-447(2011) [PubMed] [Europe PMC] [Abstract]

"Dominant and recessive RYR1 mutations in adults with core lesions and mild muscle symptoms."
Muscle Nerve 44:102-108(2011) [PubMed] [Europe PMC] [Abstract]

"Exome sequencing reveals novel rare variants in the ryanodine receptor and calcium channel genes in malignant hyperthermia families."
Anesthesiology 119:1054-1065(2013) [PubMed] [Europe PMC] [Abstract]

"Ryanodine receptor type 1 gene variants in the malignant hyperthermia-susceptible population of the United States."
Anesth. Analg. 116:1078-1086(2013) [PubMed] [Europe PMC] [Abstract]

"Novel RYR1 missense mutations in six Chinese patients with central core disease."
Neurosci. Lett. 566:32-35(2014) [PubMed] [Europe PMC] [Abstract]