DGIdb - RYR1 Gene Record

RYR1 6261 Druggable Genome

Alternate Names:

6261
RYANODINE RECEPTOR 1
RYR1
CCO
MHS
MHS1
PPP1R137
RYDR
RYR
RYR-1
SKRR
180901
10483
ENSG00000196218
OTTHUMG00000182403
P21817
RYR1_HUMAN
Skeletal muscle ryanodine receptor
Skeletal muscle-type ryanodine receptor
Type 1 ryanodine receptor
Skeletal muscle calcium release channel
RYANODINE RECEPTOR 1 (SKELETAL MUSCLE-TYPE RYANODINE RECEPTOR) (RYR1) (RYR-1) (SKELETAL MUSCLE CALCIUM RELEASE CHANNEL). [SOURCE:UNIPROT/SWISSPROT;ACC:P21817]
PA34896
KDS

Gene Info:

Interpro Acc	IPR005821
Interpro Acc	IPR001870
Human Readable Name	B30_2 SPRY DOMAIN
Interpro Name	B30.2/SPRY domain
Interpro Type	Domain
Uniprot Status	Swiss-Prot
Human Readable Name	ION CHANNEL
Uniprot Evidence	1: Evidence at protein level
Human Readable Name	DRUGGABLE GENOME
Interpro Short Name	B30.2/SPRY
Interpro Short Name	Ion_trans_dom
Interpro Name	Ion transport domain
Target Class	Transporters
Target Subclass	TC:1.A.3.1.2
Target Subclass	RYR_ITPR
Target Subclass	Channels
Target Subclass	Voltage_gated_ion_channels
Target Main Class	Transporters
Transmembrane Helix Count	9
Initial Gene Query	RyR1
Counted Citations from 1950-2000	807
Gene Biotype	PROTEIN_CODING

(7 More Sources)

Gene Categories: Category Details

ION CHANNEL
DRUGGABLE GENOME
B30_2 SPRY DOMAIN

Publications:

Monsieurs KG et al., 1998, Gly341Arg mutation indicating malignant hyperthermia susceptibility: specific cause of chronically elevated serum creatine kinase activity., J Neurol Sci
Fagerlund TH et al., 1997, Discordance between malignant hyperthermia susceptibility and RYR1 mutation C1840T in two Scandinavian MH families exhibiting this mutation., Clin Genet
Manning BM et al., 1998, Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia., Hum Mutat
Quane KA et al., 1997, Detection of a novel mutation at amino acid position 614 in the ryanodine receptor in malignant hyperthermia., Br J Anaesth
Tong J et al., 1997, Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease., J Biol Chem
Lynch PJ et al., 1997, Identification of heterozygous and homozygous individuals with the novel RYR1 mutation Cys35Arg in a large kindred., Anesthesiology
Monsieurs KG et al., 1996, Malignant hyperthermia susceptibility in a patient with concomitant motor neuron disease., J Neurol Sci
Fagerlund T et al., 1996, RYR mutation G1021A (Gly341Arg) is not frequent in Danish and Swedish families with malignant hyperthermia susceptibility., Clin Genet
Serfas KD et al., 1996, Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family., Anesthesiology
Quane KA et al., 1993, Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia., Nat Genet
Zhang Y et al., 1993, A mutation in the human ryanodine receptor gene associated with central core disease., Nat Genet
Quane KA et al., 1994, Detection of a novel common mutation in the ryanodine receptor gene in malignant hyperthermia: implications for diagnosis and heterogeneity studies., Hum Mol Genet
Fagerlund T et al., 1994, Search for three known mutations in the RYR1 gene in 48 Danish families with malignant hyperthermia., Clin Genet
Quane KA et al., 1994, 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
Moroni I et al., 1995, Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility., J Neurol
Steinfath M et al., 1995, C1840-T mutation in the human skeletal muscle ryanodine receptor gene: frequency in northern German families susceptible to malignant hyperthermia and the relationship to in vitro contracture response., J Mol Med (Berl)
Fagerlund TH et al., 1995, A search for three known RYR1 gene mutations in 41 Swedish families with predisposition to malignant hyperthermia., Clin Genet
Fletcher JE et al., 1995, Genotype and phenotype relationships for mutations in the ryanodine receptor in patients referred for diagnosis of malignant hyperthermia., Br J Anaesth
Nelson EP et al., 2018, Management of a Patient With a History of Nonanesthesia-Related Malignant Hyperthermia Undergoing Laparoscopic Cholecystectomy: A Case Report., A A Pract
Li W et al., 2017, Sudden death due to malignant hyperthermia with a mutation of RYR1: autopsy, morphology and genetic analysis., Forensic Sci Med Pathol
Merritt A et al., 2017, Assessing the pathogenicity of RYR1 variants in malignant hyperthermia., Br J Anaesth
Kraeva N et al., 2017, Malignant hyperthermia susceptibility in patients with exertional rhabdomyolysis: a retrospective cohort study and updated systematic review., Can J Anaesth
Butala B et al., 2017, Muscular body build and male sex are independently associated with malignant hyperthermia susceptibility., Can J Anaesth
Joseph MR et al., 2017, Intraoperative Presentation of Malignant Hyperthermia (Confirmed by RYR1 Gene Mutation, c.7522C>T; p.R2508C) Leads to Diagnosis of King-Denborough Syndrome in a Child With Hypotonia and Dysmorphic Features: A Case Report., A A Case Rep
Voermans NC et al., 2016, RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction., Rev Neurol (Paris)
Lopez RJ et al., 2016, An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities., Sci Signal
Roux-Buisson N et al., 2016, Identification of variants of the ryanodine receptor type 1 in patients with exertional heat stroke and positive response to the malignant hyperthermia in vitro contracture test., Br J Anaesth
Bamaga AK et al., 2016, Neuromuscular conditions associated with malignant hyperthermia in paediatric patients: A 25-year retrospective study., Neuromuscul Disord
Miyoshi H et al., 2015, Several Ryanodine Receptor Type 1 Gene Mutations of p.Arg2508 Are Potential Sources of Malignant Hyperthermia., Anesth Analg
Broman M et al., 2015, Malignant hyperthermia, a Scandinavian update., Acta Anaesthesiol Scand
Snoeck M et al., 2015, RYR1-related myopathies: a wide spectrum of phenotypes throughout life., Eur J Neurol
Gillies RL et al., 2015, Analysis of the entire ryanodine receptor type 1 and alpha 1 subunit of the dihydropyridine receptor (CACNA1S) coding regions for variants associated with malignant hyperthermia in Australian families., Anaesth Intensive Care
Potts LE et al., 2014, Improving awareness of nonanesthesia-related malignant hyperthermia presentations: a tale of two brothers., A A Case Rep
Forrest KM et al., 2015, RYR1-related malignant hyperthermia with marked cerebellar involvement - a paradigm of heat-induced CNS injury?, Neuromuscul Disord
Larach MG et al., 2014, Malignant hyperthermia deaths related to inadequate temperature monitoring, 2007-2012: a report from the North American malignant hyperthermia registry of the malignant hyperthermia association of the United States., Anesth Analg
Broman M et al., 2015, Next-generation DNA sequencing of a Swedish malignant hyperthermia cohort., Clin Genet
Roesl C et al., 2014, Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility., Cell Calcium
Schiemann AH et al., 2014, Functional characterization of 2 known ryanodine receptor mutations causing malignant hyperthermia., Anesth Analg
Freiermuth D et al., 2013, Difficult diagnosis of malignant hyperthermia during laparoscopic surgery., Eur J Anaesthesiol
Dlamini N et al., 2013, Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis., Neuromuscul Disord
Kaufmann A et al., 2012, Novel double and single ryanodine receptor 1 variants in two Austrian malignant hyperthermia families., Anesth Analg
Taylor A et al., 2012, A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility., J Clin Neurosci
Broman M et al., 2011, Screening of the ryanodine 1 gene for malignant hyperthermia causative mutations by high resolution melt curve analysis., Anesth Analg
Kraeva N et al., 2011, Ryanodine receptor type 1 gene mutations found in the Canadian malignant hyperthermia population., Can J Anaesth
Chan B et al., 2011, RYR1-related central core myopathy in a Chinese adolescent boy., Hong Kong Med J
Tammaro A et al., 2011, Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families., Clin Genet
Rueffert H et al., 2009, Mild clinical and histopathological features in patients who carry the frequent and causative malignant hyperthermia RyR1 mutation p.Thr2206Met., Clin Neuropathol
Migita T et al., 2009, Functional analysis of ryanodine receptor type 1 p.R2508C mutation in exon 47., J Anesth
Carpenter D et al., 2009, Genetic variation in RYR1 and malignant hyperthermia phenotypes., Br J Anaesth
Broman M et al., 2009, Mutation screening of the RYR1-cDNA from peripheral B-lymphocytes in 15 Swedish malignant hyperthermia index cases., Br J Anaesth
Zullo A et al., 2009, Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes., Hum Mutat
Levano S et al., 2009, Increasing the number of diagnostic mutations in malignant hyperthermia., Hum Mutat
Girard T et al., 2008, A fulminant malignant hyperthermia episode in a patient with ryanodine receptor gene mutation p.Tyr522Ser., Anesth Analg
Carpenter D et al., 2009, Analysis of RYR1 haplotype profile in patients with malignant hyperthermia., Ann Hum Genet
Gillies RL et al., 2008, Identification of genetic mutations in Australian malignant hyperthermia families using sequencing of RYR1 hotspots., Anaesth Intensive Care
Girard T et al., 2008, Molecular genetic testing to diagnose malignant hyperthermia susceptibility., J Clin Anesth
Tanabe T et al., 2008, Malignant hyperthermia susceptibility diagnosed with a family-specific ryanodine receptor gene type 1 mutation., J Anesth
Anderson AA et al., 2008, Identification and biochemical characterization of a novel ryanodine receptor gene mutation associated with malignant hyperthermia., Anesthesiology
Gillard EF et al., 1991, A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia., Genomics
Heytens L, 2007, Molecular genetic detection of susceptibility to malignant hyperthermia in Belgian families., Acta Anaesthesiol Belg
Newmark JL et al., 2007, Delayed onset of malignant hyperthermia without creatine kinase elevation in a geriatric, ryanodine receptor type 1 gene compound heterozygous patient., Anesthesiology
Zhou H et al., 2007, Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies., Brain
Kossugue PM et al., 2007, Central core disease due to recessive mutations in RYR1 gene: is it more common than described?, Muscle Nerve
Yang T et al., 2006, Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse., Anesthesiology
Broman M et al., 2007, Malignant hyperthermia and central core disease causative mutations in Swedish patients., Acta Anaesthesiol Scand
Robinson R et al., 2006, Mutations in RYR1 in malignant hyperthermia and central core disease., Hum Mutat
Galli L et al., 2006, Frequency and localization of mutations in the 106 exons of the RYR1 gene in 50 individuals with malignant hyperthermia., Hum Mutat
Girard T et al., 2006, Perinatal diagnosis of malignant hyperthermia susceptibility., Anesthesiology
Ibarra M CA et al., 2006, Malignant hyperthermia in Japan: mutation screening of the entire ryanodine receptor type 1 gene coding region by direct sequencing., Anesthesiology
Wu S et al., 2006, Central core disease is due to RYR1 mutations in more than 90% of patients., Brain
Chelu MG et al., 2006, Heat- and anesthesia-induced malignant hyperthermia in an RyR1 knock-in mouse., FASEB J
Yeh HM et al., 2005, Denaturing high performance liquid chromatography screening of ryanodine receptor type 1 gene in patients with malignant hyperthermia in Taiwan and identification of a novel mutation (Y522C)., Anesth Analg
Monnier N et al., 2005, Correlations between genotype and pharmacological, histological, functional, and clinical phenotypes in malignant hyperthermia susceptibility., Hum Mutat
Sambuughin N et al., 2005, Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population., Anesthesiology
Sei Y et al., 2004, Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene., Anesthesiology
Wehner M et al., 2004, Functional characterization of malignant hyperthermia-associated RyR1 mutations in exon 44, using the human myotube model., Neuromuscul Disord
Rueffert H et al., 2004, Spontaneous occurrence of the disposition to malignant hyperthermia., Anesthesiology
Hogan K et al., 1992, A cysteine-for-arginine substitution (R614C) in the human skeletal muscle calcium release channel cosegregates with malignant hyperthermia., Anesth Analg
Wehner M et al., 2003, Calcium release from sarcoplasmic reticulum is facilitated in human myotubes derived from carriers of the ryanodine receptor type 1 mutations Ile2182Phe and Gly2375Ala., Genet Test
Muniz VP et al., 2003, Screening for mutations in the RYR1 gene in families with malignant hyperthermia., J Mol Neurosci
Gillard EF et al., 1992, Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia., Genomics
Loke JC et al., 2003, Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript., Anesthesiology
Tammaro A et al., 2003, Scanning for mutations of the ryanodine receptor (RYR1) gene by denaturing HPLC: detection of three novel malignant hyperthermia alleles., Clin Chem
Rüffert H et al., 2002, [Current aspects of the diagnosis of malignant hyperthermia]., Anaesthesist
Monnier N et al., 2002, Presence of two different genetic traits in malignant hyperthermia families: implication for genetic analysis, diagnosis, and incidence of malignant hyperthermia susceptibility., Anesthesiology
Sei Y et al., 2002, Patients with malignant hyperthermia demonstrate an altered calcium control mechanism in B lymphocytes., Anesthesiology
Steinfath M et al., 2002, Evidence for a spontaneous C1840-T mutation in the RYR1 gene after DNA fingerprinting in a malignant hyperthermia susceptible family., Naunyn Schmiedebergs Arch Pharmacol
Wehner M et al., 2002, Increased sensitivity to 4-chloro-m-cresol and caffeine in primary myotubes from malignant hyperthermia susceptible individuals carrying the ryanodine receptor 1 Thr2206Met (C6617T) mutation., Clin Genet
Galli L et al., 2002, 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
Fiege M et al., 2002, Results of contracture tests with halothane, caffeine, and ryanodine depend on different malignant hyperthermia-associated ryanodine receptor gene mutations., Anesthesiology
Robinson RL et al., 2002, RYR1 mutations causing central core disease are associated with more severe malignant hyperthermia in vitro contracture test phenotypes., Hum Mutat
McWilliams S et al., 2002, Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia., Clin Genet
Rueffert H et al., 2002, 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
Oyamada H et al., 2002, Novel mutations in C-terminal channel region of the ryanodine receptor in malignant hyperthermia patients., Jpn J Pharmacol
Girard T et al., 2001, Genotype-phenotype comparison of the Swiss malignant hyperthermia population., Hum Mutat
Sambuughin N et al., 2001, North American malignant hyperthermia population: screening of the ryanodine receptor gene and identification of novel mutations., Anesthesiology
Rueffert H et al., 2001, Determination of a positive malignant hyperthermia (MH) disposition without the in vitro contracture test in families carrying the RYR1 Arg614Cys mutation., Clin Genet
Sambuughin N et al., 2001, Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families., Neuromuscul Disord
Rueffert H et al., 2001, Homozygous and heterozygous Arg614Cys mutations (1840C-->T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family., Br J Anaesth
Tobin JR et al., 2001, Malignant hyperthermia and apparent heat stroke., JAMA
Monnier N et al., 2000, An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor., Hum Mol Genet
Brown RL et al., 2000, A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree., Hum Mol Genet
Chamley D et al., 2000, Malignant hyperthermia in infancy and identification of novel RYR1 mutation., Br J Anaesth
Ichihara Y et al., 2000, [Preliminary report: first identification of known mutation in the ryanodine receptor gene in a Japanese malignant hyperthermia pedigree]., Masui
Brinkmeier H et al., 1999, Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubes., Br J Anaesth
Gencik M et al., 2000, Novel mutation in the RYR1 gene (R2454C) in a patient with malignant hyperthermia., Hum Mutat
Brandt A et al., 1999, Screening of the ryanodine receptor gene in 105 malignant hyperthermia families: novel mutations and concordance with the in vitro contracture test., Hum Mol Genet
Fortunato G et al., 1999, A case of discordance between genotype and phenotype in a malignant hyperthermia family., Eur J Hum Genet
Kondo T et al., 2018, Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia., J Anesth
Porcelli S et al., 2016, Possible biomarkers modulating haloperidol efficacy and/or tolerability., Pharmacogenomics
Daly, 2007, Caffeine analogs: biomedical impact., Cell. Mol. Life Sci.
Iaizzo PA et al., 1999, 4-chloro-m-cresol triggers malignant hyperthermia in susceptible swine at doses greatly exceeding those found in drug preparations., Anesthesiology
Tong J et al., 1999, Measurement of resting cytosolic Ca2+ concentrations and Ca2+ store size in HEK-293 cells transfected with malignant hyperthermia or central core disease mutant Ca2+ release channels., J Biol Chem
Kosk-Kosicka D et al., 1997, Heterogeneous halothane binding in the SR Ca2+-ATPase., FEBS Lett
Nelson TE et al., 1988, Ca2+ uptake and Ca2+ release by skeletal muscle sarcoplasmic reticulum: differing sensitivity to inhalational anesthetics., Anesthesiology
Timmins MA et al., 2015, Malignant hyperthermia testing in probands without adverse anesthetic reaction., Anesthesiology
Larson EA et al., 2015, Integration of Genomics in Primary Care., Am J Med
Canato M et al., 2015, The disorders of the calcium release unit of skeletal muscles: what have we learned from mouse models?, J Muscle Res Cell Motil
Guerrero-Hernández A et al., 2014, Ryanodine receptors as leak channels., Eur J Pharmacol
Dexter F et al., 2013, Estimate of the relative risk of succinylcholine for triggering malignant hyperthermia., Anesth Analg
Hwang JH et al., 2012, Mapping domains and mutations on the skeletal muscle ryanodine receptor channel., Trends Mol Med
Hernandez-Lain A et al., 2011, De novo RYR1 heterozygous mutation (I4898T) causing lethal core-rod myopathy in twins., Eur J Med Genet
Glahn KP et al., 2010, Recognizing and managing a malignant hyperthermia crisis: guidelines from the European Malignant Hyperthermia Group., Br J Anaesth
Rosenberg H et al., 2020, Malignant Hyperthermia Susceptibility,
Sambuughin N et al., 2009, The ryanodine receptor type 1 gene variants in African American men with exertional rhabdomyolysis and malignant hyperthermia susceptibility., Clin Genet
Stowell KM, 2008, Malignant hyperthermia: a pharmacogenetic disorder., Pharmacogenomics
Treves S et al., 2008, Congenital muscle disorders with cores: the ryanodine receptor calcium channel paradigm., Curr Opin Pharmacol
Yang T et al., 2007, Elevated resting [Ca(2+)](i) in myotubes expressing malignant hyperthermia RyR1 cDNAs is partially restored by modulation of passive calcium leak from the SR., Am J Physiol Cell Physiol
López JR et al., 2005, Enhanced response to caffeine and 4-chloro-m-cresol in malignant hyperthermia-susceptible muscle is related in part to chronically elevated resting [Ca2+]i., Am J Physiol Cell Physiol
Ducreux S et al., 2004, Effect of ryanodine receptor mutations on interleukin-6 release and intracellular calcium homeostasis in human myotubes from malignant hyperthermia-susceptible individuals and patients affected by central core disease., J Biol Chem
Campagna JA et al., 2003, Mechanisms of actions of inhaled anesthetics., N Engl J Med
Sewry CA et al., 2002, The spectrum of pathology in central core disease., Neuromuscul Disord
Nelson TE, 2001, Heat production during anesthetic-induced malignant hyperthermia., Biosci Rep
Baur CP et al., 2000, A multicenter study of 4-chloro-m-cresol for diagnosing malignant hyperthermia susceptibility., Anesth Analg
Zhao et al., 2006, Azumolene inhibits a component of store-operated calcium entry coupled to the skeletal muscle ryanodine receptor., J. Biol. Chem.
Britt et al., 1984, Dantrolene--in vitro studies in malignant hyperthermia susceptible (MHS) and normal skeletal muscle., Can Anaesth Soc J
Gerbershagen et al., 2003, [Dantrolene. Pharmacological and therapeutic aspects]., Anaesthesist
Harrison, 1998, Control of the malignant hyperpyrexic syndrome in MHS swine by dantrolene sodium. 1975., Br J Anaesth
Tonner et al., 1995, Alterations of inositol polyphosphates in skeletal muscle during porcine malignant hyperthermia., Br J Anaesth
Paul-Pletzer et al., 2002, Identification of a dantrolene-binding sequence on the skeletal muscle ryanodine receptor., J. Biol. Chem.
Flewellen et al., 1980, Dantrolene dose response in malignant hyperthermia-susceptible (MHS) swine: method to obtain prophylaxis and therapeusis., Anesthesiology
Chen et al., 2002, TTD: Therapeutic Target Database., Nucleic Acids Res.
Krause et al., 2004, Dantrolene--a review of its pharmacology, therapeutic use and new developments., Anaesthesia

SUXAMETHONIUM RYR1

Interaction Score: 136.03

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
9543323 9520251 9450902 9389851 9334205 9066328 8902717 8828983 8602662 8220423 8220422 8012359 7889656 7829078 7751854 7633940 7586638 7547049 29608462 29101530 28403410 28326467 28063098 27918309 27663056 27382027 26994242 26951757 26381711 25960145 25735680 25611019 25466363 25268394 25256590 25086907 24361844 23736090 22415532 22030266 21965348 21455645 21282829 20681998 19919814 19685112 19346234 19191333 19191329 19020143 18945287 18564801 18502356 18306019 18212565 1774074 17710899 17667581 17483490 17226826 17122579 17081152 16835904 16732128 16732084 16621918 16284304 16244001 16163667 15731587 15448513 15210166 15108991 1510267 14641996 14500992 1354642 12883402 12709367 12434264 12411788 12237752 12220451 12208234 12151923 12123492 12059893 11928716 11668625 11575529 11553045 11525881 11493496 11448278 11063719 10888602 10823104 10793526 10700782 10612851 10484775 10360872 10352931 9873004 9037193 3177917 26068069 26031886 25989378 25424378 24291096 23628358 23223104 23069638 20888934 20837722 20301325 19807743 19648156 19018722 18313359 17182726 16917943 15537710 15299003 12761368 12467748 12411786 12124989 11725865 10625004

Sources:
PharmGKB
METHOXYFLURANE RYR1

Interaction Score: 25.53

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
9543323 9520251 9450902 9389851 9334205 9066328 8902717 8828983 8602662 8220423 8220422 8012359 7889656 7829078 7751854 7633940 7586638 7547049 29608462 29101530 28403410 28326467 28063098 27918309 27663056 27382027 26994242 26951757 26381711 25989378 25960145 25735680 25611019 25466363 25268394 25256590 25086907 24361844 23736090 23628358 22415532 22030266 21965348 21455645 21282829 20681998 19919814 19685112 19648156 19346234 19191333 19191329 19020143 18945287 18564801 18502356 18306019 18212565 1774074 17710899 17667581 17483490 17226826 17122579 17081152 16917943 16835904 16732128 16732084 16621918 16284304 16244001 16163667 15731587 15448513 15210166 15108991 1510267 14641996 14500992 1354642 12883402 12709367 12434264 12411788 12411786 12237752 12220451 12208234 12151923 12124989 12123492 12059893 11928716 11668625 11575529 11553045 11525881 11493496 11448278 11063719 10888602 10823104 10793526 10700782 10612851 10484775 10352931

Sources:
PharmGKB
HALOTHANE RYR1

Interaction Score: 20.06

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
9543323 9520251 9450902 9389851 9334205 9066328 8902717 8828983 8602662 8220423 8220422 8012359 7889656 7829078 7751854 7633940 7586638 7547049 29608462 29101530 28403410 28326467 28063098 27918309 27663056 27382027 26994242 26951757 26381711 25989378 25960145 25735680 25611019 25466363 25268394 25256590 25086907 24361844 23736090 23628358 22415532 22030266 21965348 21455645 21282829 20681998 19919814 19685112 19648156 19346234 19191333 19191329 19020143 18945287 18564801 18502356 18306019 18212565 1774074 17710899 17667581 17483490 17226826 17122579 17081152 16917943 16835904 16732128 16732084 16621918 16284304 16244001 16163667 15731587 15448513 15210166 15108991 1510267 14641996 14500992 1354642 12883402 12709367 12434264 12411788 12411786 12237752 12220451 12208234 12151923 12124989 12123492 12059893 11928716 11668625 11575529 11553045 11525881 11493496 11448278 11063719 10888602 10823104 10793526 10700782 10612851 10484775 10352931

Sources:
PharmGKB
ISOFLURANE RYR1

Interaction Score: 20.06

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
9543323 9520251 9450902 9389851 9334205 9066328 8902717 8828983 8602662 8220423 8220422 8012359 7889656 7829078 7751854 7633940 7586638 7547049 29608462 29101530 28403410 28326467 28063098 27918309 27663056 27382027 26994242 26951757 26381711 25989378 25960145 25735680 25611019 25466363 25268394 25256590 25086907 24361844 23736090 23628358 19191329 22415532 22030266 21965348 21455645 19020143 21282829 18945287 20681998 18564801 19919814 19685112 18502356 19648156 18306019 19346234 18212565 19191333 12124989 1774074 12123492 17710899 12059893 17667581 11928716 11668625 17483490 11575529 17226826 11553045 17122579 11525881 11493496 17081152 11448278 16917943 11063719 16835904 10888602 10823104 16732128 10793526 16732084 10700782 10612851 16621918 10484775 16284304 10352931 16244001 16163667 15731587 15448513 15210166 15108991 1510267 14641996 14500992 1354642 12883402 12709367 12434264 12411788 12411786 12237752 12220451 12208234 12151923

Sources:
PharmGKB
DESFLURANE RYR1

Interaction Score: 18.72

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
9543323 9520251 9450902 9389851 9334205 9066328 8902717 8828983 8602662 8220423 8220422 8012359 7889656 7829078 7751854 7633940 7586638 7547049 29608462 29101530 28403410 28326467 28063098 27918309 27663056 27382027 26994242 26951757 26381711 25989378 25960145 25735680 25611019 25466363 25268394 25256590 25086907 24361844 23736090 23628358 22415532 22030266 21965348 21455645 21282829 20681998 19919814 19685112 19648156 19346234 19191333 19191329 19020143 18945287 18564801 18502356 18306019 18212565 1774074 17710899 17667581 17483490 17226826 17122579 17081152 16917943 16835904 16732128 16732084 16621918 16284304 16244001 16163667 15731587 15448513 15210166 15108991 1510267 14641996 14500992 1354642 12883402 12709367 12434264 12411788 12411786 12237752 12220451 12208234 12151923 12124989 12123492 12059893 11928716 11668625 11575529 11553045 11525881 11493496 11448278 11063719 10888602 10823104 10793526 10700782 10612851 10484775 10352931

Sources:
PharmGKB
ENFLURANE RYR1

Interaction Score: 18.12

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
9543323 9520251 9450902 9389851 9334205 9066328 8902717 8828983 8602662 8220423 8220422 8012359 7889656 7829078 7751854 7633940 7586638 7547049 29608462 29101530 28403410 28326467 28063098 27918309 27663056 27382027 26994242 26951757 26381711 25989378 25960145 25735680 25611019 25466363 25268394 25256590 25086907 24361844 23736090 23628358 22415532 22030266 21965348 21455645 21282829 20681998 19919814 19685112 19648156 19346234 19191333 19191329 19020143 18945287 18564801 18502356 18306019 18212565 1774074 17710899 17667581 17483490 17226826 17122579 17081152 16917943 16835904 16732128 16732084 16621918 16284304 16244001 16163667 15731587 15448513 15210166 15108991 1510267 14641996 14500992 1354642 12883402 12709367 12434264 12411788 12411786 12237752 12220451 12208234 12151923 12124989 12123492 12059893 11928716 11668625 11575529 11553045 11525881 11493496 11448278 11063719 10888602 10823104 10793526 10700782 10612851 10484775 10352931

Sources:
PharmGKB
SEVOFLURANE RYR1

Interaction Score: 17.17

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
9543323 9520251 9450902 9389851 9334205 9066328 8902717 8828983 8602662 8220423 8220422 8012359 7889656 7829078 7751854 7633940 7586638 7547049 29608462 29101530 28403410 28326467 28063098 27918309 27663056 27382027 26994242 26951757 26381711 25989378 25960145 25735680 25611019 25466363 25268394 25256590 25086907 24361844 23736090 23628358 22415532 22030266 21965348 21455645 21282829 20681998 19919814 19685112 19648156 19346234 19191333 19191329 19020143 18945287 18564801 18502356 18306019 18212565 1774074 17710899 17667581 17483490 17226826 17122579 17081152 16917943 16835904 16732128 16732084 16621918 16284304 16244001 16163667 15731587 15448513 15210166 15108991 1510267 14641996 14500992 1354642 12883402 12709367 12434264 12411788 12411786 12237752 12220451 12208234 12151923 12124989 12123492 12059893 11928716 11668625 11575529 11553045 11525881 11493496 11448278 11063719 10888602 10823104 10793526 10700782 10612851 10484775 10352931

Sources:
PharmGKB FDA
CHLOROCRESOL RYR1

Interaction Score: 15.46

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
29344738 25086907

Sources:
PharmGKB
DANTROLENE RYR1

Interaction Score: 7.73

Interaction Types & Directionality:

antagonist (inhibitory)

Interaction Info:

Trial Name -

Novel drug target Established target

PMIDs:
16945924 6704779 12666006 9924249 7488490 12167662 7362049 11752352 15023108

Sources:
TdgClinicalTrial TEND PharmGKB
DANTROLENE SODIUM RYR1

Interaction Score: 1.72

Interaction Types & Directionality:

antagonist (inhibitory)

Interaction Info:

Mechanism of Interaction Ryanodine receptor 1 antagonist

Direct Interaction yes

PMIDs:
None found

Sources:
ChemblInteractions
CAFFEINE RYR1

Interaction Score: 0.95

Interaction Types & Directionality:

activator (activating)

Interaction Info:

PMIDs:
9334205 29344738 11525881 17514358

Sources:
PharmGKB
HALOPERIDOL RYR1

Interaction Score: 0.16

Interaction Types & Directionality:

n/a

Interaction Info:

PMIDs:
27023437

Sources:
PharmGKB

Ensembl: ENSG00000196218
- Version: 101_38
Alternate Names:

RYR1 Ensembl Gene Name

Gene Info:

Gene Biotype PROTEIN_CODING

Publications:

RussLampel: ENSG00000196218

Version: 26-July-2011

Alternate Names:

ENSG00000196218 Ensembl Gene Id

RYR1 Display Id

RYANODINE RECEPTOR 1 (SKELETAL MUSCLE-TYPE RYANODINE RECEPTOR) (RYR1) (RYR-1) (SKELETAL MUSCLE CALCIUM RELEASE CHANNEL). [SOURCE:UNIPROT/SWISSPROT;ACC:P21817] Description

Gene Info:

Human Readable Name DRUGGABLE GENOME

Gene Categories:

DRUGGABLE GENOME

Publications:

BaderLabGenes: RYR1
- Version: February-2014
Alternate Names:

6261 Entrez Gene ID

Gene Info:

Initial Gene Query RyR1

Counted Citations from 1950-2000 807

Gene Categories:

ION CHANNEL

Publications:
TdgClinicalTrial: P21817
- Version: January-2014
Alternate Names:

RYR1 Gene Symbol

Gene Info:

Target Class Transporters

Target Subclass TC:1.A.3.1.2

Publications:
TEND: P21817
- Version: 01-August-2011
Alternate Names:

RYR1_HUMAN Uniprot Id

ENSG00000196218 Ensembl Gene Id

RYR1 Gene Symbol

Gene Info:

Target Subclass RYR_ITPR

Target Subclass Channels

Target Subclass Voltage_gated_ion_channels

Publications:
HopkinsGroom: P21817
- Version: 11-September-2012
Alternate Names:

RYANODINE RECEPTOR 1 Uniprot Protein Name

RYR1_HUMAN Uniprot Id

P21817 Uniprot Accession

Gene Info:

Interpro Acc IPR005821

Interpro Acc IPR001870

Human Readable Name B30_2 SPRY DOMAIN

Gene Categories:

ION CHANNEL, DRUGGABLE GENOME, B30_2 SPRY DOMAIN

Publications:

PharmGKB: RYR1

Version: 18-August-2020

Alternate Names:

PA34896 PharmGKB ID

Gene Info:

Publications:

Tong J et al., 1997, Caffeine and halothane sensitivity of intracellular Ca2+ release is altered by 15 calcium release channel (ryanodine receptor) mutations associated with malignant hyperthermia and/or central core disease., J Biol Chem

Sambuughin N et al., 2001, Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families., Neuromuscul Disord

Kondo T et al., 2018, Genetic and functional analysis of the RYR1 mutation p.Thr84Met revealed a susceptibility to malignant hyperthermia., J Anesth

ChemblInteractions: RYDR
- Version: chembl_23
Alternate Names:

RYDR GENE_SYMBOL

RYR1 GENE_SYMBOL

Ryanodine receptor 1 UNIPROT

Gene Info:

Publications:
HingoraniCasas: ENSG00000196218
- Version: 31-May-2017
Alternate Names:

ENSG00000196218 Gene Symbol

RYR1 Ensembl Id

Gene Info:

Gene Categories:

DRUGGABLE GENOME

Publications:
Pharos: RYR1
- Version: 01-February-2022
Alternate Names:

Ryanodine receptor 1 Gene Name

P21817 UniProt ID

Gene Info:

Gene Categories:

ION CHANNEL

Publications:
FDA: RYR1
- Version: 04-September-2020
Alternate Names:

Gene Info:

Publications:

Mechanism of Interaction	Ryanodine receptor 1 antagonist
Direct Interaction	yes

ENSG00000196218	Ensembl Gene Id
RYR1	Display Id
RYANODINE RECEPTOR 1 (SKELETAL MUSCLE-TYPE RYANODINE RECEPTOR) (RYR1) (RYR-1) (SKELETAL MUSCLE CALCIUM RELEASE CHANNEL). [SOURCE:UNIPROT/SWISSPROT;ACC:P21817]	Description

RYR1_HUMAN	Uniprot Id
ENSG00000196218	Ensembl Gene Id
RYR1	Gene Symbol

RYANODINE RECEPTOR 1	Uniprot Protein Name
RYR1_HUMAN	Uniprot Id
P21817	Uniprot Accession

Trial Name	-
Novel drug target	Established target

RYR1 Gene Record

RYR1 6261 Druggable Genome

Alternate Names:

Gene Info:

Gene Categories: Category Details

Publications:

Interaction Types & Directionality: n/a

Interaction Info:

Sources: PharmGKB

Interaction Types & Directionality: n/a

Interaction Info:

Sources: PharmGKB

Interaction Types & Directionality: n/a

Interaction Info:

Sources: PharmGKB

Interaction Types & Directionality: n/a

Interaction Info:

Sources: PharmGKB

Interaction Types & Directionality: n/a

Interaction Info:

Sources: PharmGKB

Interaction Types & Directionality: n/a

Interaction Info:

Sources: PharmGKB

Interaction Types & Directionality: n/a

Interaction Info:

Sources: PharmGKB FDA

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: 29344738 25086907

Sources: PharmGKB

Interaction Types & Directionality: antagonist (inhibitory)

Interaction Info: Trial Name - Novel drug target Established target

PMIDs: 16945924 6704779 12666006 9924249 7488490 12167662 7362049 11752352 15023108

Sources: TdgClinicalTrial TEND PharmGKB

Interaction Types & Directionality: antagonist (inhibitory)

Interaction Info: Mechanism of Interaction Ryanodine receptor 1 antagonist Direct Interaction yes

PMIDs: None found

Sources: ChemblInteractions

Interaction Types & Directionality: activator (activating)

Interaction Info:

PMIDs: 9334205 29344738 11525881 17514358

Sources: PharmGKB

Interaction Types & Directionality: n/a

Interaction Info:

PMIDs: 27023437

Sources: PharmGKB

Ensembl: ENSG00000196218

Alternate Names: RYR1 Ensembl Gene Name

Gene Info: Gene Biotype PROTEIN_CODING

Publications:

RussLampel: ENSG00000196218

Alternate Names: ENSG00000196218 Ensembl Gene Id RYR1 Display Id RYANODINE RECEPTOR 1 (SKELETAL MUSCLE-TYPE RYANODINE RECEPTOR) (RYR1) (RYR-1) (SKELETAL MUSCLE CALCIUM RELEASE CHANNEL). [SOURCE:UNIPROT/SWISSPROT;ACC:P21817] Description

Gene Info: Human Readable Name DRUGGABLE GENOME

Gene Categories: DRUGGABLE GENOME

Publications:

BaderLabGenes: RYR1

Alternate Names: 6261 Entrez Gene ID

Gene Info: Initial Gene Query RyR1 Counted Citations from 1950-2000 807

Gene Categories: ION CHANNEL

Publications:

TdgClinicalTrial: P21817

Alternate Names: RYR1 Gene Symbol

Gene Info: Target Class Transporters Target Subclass TC:1.A.3.1.2

Publications:

TEND: P21817

Alternate Names: RYR1_HUMAN Uniprot Id ENSG00000196218 Ensembl Gene Id RYR1 Gene Symbol

Gene Info: Target Subclass RYR_ITPR Target Subclass Channels Target Subclass Voltage_gated_ion_channels

Publications:

HopkinsGroom: P21817

Alternate Names: RYANODINE RECEPTOR 1 Uniprot Protein Name RYR1_HUMAN Uniprot Id P21817 Uniprot Accession

Gene Info: Interpro Acc IPR005821 Interpro Acc IPR001870 Human Readable Name B30_2 SPRY DOMAIN

Gene Categories: ION CHANNEL, DRUGGABLE GENOME, B30_2 SPRY DOMAIN

Publications:

PharmGKB: RYR1

Alternate Names: PA34896 PharmGKB ID

Gene Info:

ChemblInteractions: RYDR

Alternate Names: RYDR GENE_SYMBOL RYR1 GENE_SYMBOL Ryanodine receptor 1 UNIPROT

Gene Info:

Interaction Types & Directionality:

n/a

Sources:
PharmGKB

Interaction Types & Directionality:

n/a

Sources:
PharmGKB

Interaction Types & Directionality:

n/a

Sources:
PharmGKB

Interaction Types & Directionality:

n/a

Sources:
PharmGKB

Interaction Types & Directionality:

n/a

Sources:
PharmGKB

Interaction Types & Directionality:

n/a

Sources:
PharmGKB

Interaction Types & Directionality:

n/a

Sources:
PharmGKB FDA

Interaction Types & Directionality:

n/a

PMIDs:
29344738 25086907

Sources:
PharmGKB

Interaction Types & Directionality:

antagonist (inhibitory)

Interaction Info:

Trial Name -

Novel drug target Established target

PMIDs:
16945924 6704779 12666006 9924249 7488490 12167662 7362049 11752352 15023108

Sources:
TdgClinicalTrial TEND PharmGKB

Interaction Types & Directionality:

antagonist (inhibitory)

Interaction Info:

Mechanism of Interaction Ryanodine receptor 1 antagonist

Direct Interaction yes

PMIDs:
None found

Sources:
ChemblInteractions

Interaction Types & Directionality:

activator (activating)

PMIDs:
9334205 29344738 11525881 17514358

Sources:
PharmGKB

Interaction Types & Directionality:

n/a

PMIDs:
27023437

Sources:
PharmGKB

Alternate Names:

RYR1 Ensembl Gene Name

Gene Info:

Gene Biotype PROTEIN_CODING

Alternate Names:

ENSG00000196218 Ensembl Gene Id

RYR1 Display Id

RYANODINE RECEPTOR 1 (SKELETAL MUSCLE-TYPE RYANODINE RECEPTOR) (RYR1) (RYR-1) (SKELETAL MUSCLE CALCIUM RELEASE CHANNEL). [SOURCE:UNIPROT/SWISSPROT;ACC:P21817] Description

Gene Info:

Human Readable Name DRUGGABLE GENOME

Gene Categories:

DRUGGABLE GENOME

Alternate Names:

6261 Entrez Gene ID

Gene Info:

Initial Gene Query RyR1

Counted Citations from 1950-2000 807

Gene Categories:

ION CHANNEL

Alternate Names:

RYR1 Gene Symbol

Gene Info:

Target Class Transporters

Target Subclass TC:1.A.3.1.2

Alternate Names:

RYR1_HUMAN Uniprot Id

ENSG00000196218 Ensembl Gene Id

RYR1 Gene Symbol

Gene Info:

Target Subclass RYR_ITPR

Target Subclass Channels

Target Subclass Voltage_gated_ion_channels

Alternate Names:

RYANODINE RECEPTOR 1 Uniprot Protein Name

RYR1_HUMAN Uniprot Id

P21817 Uniprot Accession

Gene Info:

Interpro Acc IPR005821

Interpro Acc IPR001870

Human Readable Name B30_2 SPRY DOMAIN

Gene Categories:

ION CHANNEL, DRUGGABLE GENOME, B30_2 SPRY DOMAIN

Alternate Names:

PA34896 PharmGKB ID

Alternate Names:

RYDR GENE_SYMBOL

RYR1 GENE_SYMBOL

Ryanodine receptor 1 UNIPROT

Alternate Names:

ENSG00000196218 Gene Symbol

RYR1 Ensembl Id

Gene Categories:

DRUGGABLE GENOME

Alternate Names:

Ryanodine receptor 1 Gene Name

P21817 UniProt ID

Gene Categories:

ION CHANNEL