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Aliases for RYR1 Gene

Aliases for RYR1 Gene

  • Ryanodine Receptor 1 2 3
  • Ryanodine Receptor 1 (Skeletal) 2 3 5
  • Skeletal Muscle Calcium Release Channel 3 4
  • Skeletal Muscle Ryanodine Receptor 3 4
  • Central Core Disease Of Muscle 2 3
  • RYR-1 3 4
  • RYDR 3 4
  • Sarcoplasmic Reticulum Calcium Release Channel 3
  • Protein Phosphatase 1, Regulatory Subunit 137 3
  • Skeletal Muscle-Type Ryanodine Receptor 4
  • Type 1-Like Ryanodine Receptor 3
  • Type 1 Ryanodine Receptor 4
  • Regulatory Subunit 137 2
  • Protein Phosphatase 1 2
  • PPP1R137 3
  • SKRR 3
  • MHS1 3
  • RyR1 4
  • RYR 3
  • CCO 3
  • MHS 3

External Ids for RYR1 Gene

Previous HGNC Symbols for RYR1 Gene

  • MHS
  • MHS1
  • CCO

Previous GeneCards Identifiers for RYR1 Gene

  • GC19P039538
  • GC19P039315
  • GC19P043600
  • GC19P043616
  • GC19P038924
  • GC19P035371

Summaries for RYR1 Gene

Entrez Gene Summary for RYR1 Gene

  • This gene encodes 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for RYR1 Gene

RYR1 (Ryanodine Receptor 1) is a Protein Coding gene. Diseases associated with RYR1 include central core disease and malignant hyperthermia susceptibility 1. Among its related pathways are Calcium signaling pathway and Circadian entrainment. GO annotations related to this gene include calcium ion binding and calmodulin binding. An important paralog of this gene is ITPR2.

UniProtKB/Swiss-Prot for RYR1 Gene

  • 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 (By similarity).

Tocris Summary for RYR1 Gene

Gene Wiki entry for RYR1 Gene

PharmGKB "VIP" Summary for RYR1 Gene

No data available for fRNAdb sequence ontologies and piRNA Summary for RYR1 Gene

Genomics for RYR1 Gene

Regulatory Elements for RYR1 Gene

Enhancers for RYR1 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RYR1 on UCSC Golden Path with GeneCards custom track

Promoters for RYR1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RYR1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RYR1 Gene

Chromosome:
19
Start:
38,433,699 bp from pter
End:
38,587,564 bp from pter
Size:
153,866 bases
Orientation:
Plus strand

Genomic View for RYR1 Gene

Genes around RYR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RYR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RYR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RYR1 Gene

Proteins for RYR1 Gene

  • Protein details for RYR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21817-RYR1_HUMAN
    Recommended name:
    Ryanodine receptor 1
    Protein Accession:
    P21817
    Secondary Accessions:
    • Q16314
    • Q16368
    • Q9NPK1
    • Q9P1U4

    Protein attributes for RYR1 Gene

    Size:
    5038 amino acids
    Molecular mass:
    565176 Da
    Quaternary structure:
    • Homotetramer. Can also form heterotetramers with RYR2. Interacts with CALM; CALM with bound calcium inhibits the RYR1 channel activity. Interacts with S100A1. Interacts with FKBP1A; this stabilizes the closed conformation of the channel. Interacts with CACNA1S; interaction with CACNA1S is important for activation of the RYR1 channel. Interacts with CACNB1. Interacts with TRDN and ASPH; these interactions stimulate RYR1 channel activity (By similarity). Identified in a complex composed of RYR1, PDE4D, PKA, FKBP1A and protein phosphatase 1 (PP1). Repeated very high-level exercise decreases interaction with PDE4D and protein phosphatase 1 (PP1). Interacts with SEPN1 (By similarity).
    Miscellaneous:
    • Channel activity is modulated by the alkaloid ryanodine that binds to the open Ca-release channel with high affinity. At low concentrations, ryanodine maintains the channel in an open conformation. High ryanodine concentrations inhibit channel activity. Channel activity is regulated by calmodulin (CALM). The calcium release is activated by increased cytoplasmic calcium levels, by nitric oxyde (NO), caffeine and ATP. Channel activity is inhibited by magnesium ions, possibly by competition for calcium binding sites (By similarity).
    • Coexpression of normal and mutant Thr-4898 RYR1 in a 1:1 ratio, produces RYR1 channels with normal halothane and caffeine sensitivities, but maximal levels of Ca(2+) release are reduced by 67%. Binding of [3H]ryanodine indicates that the heterozygous channel is activated by Ca(2+) concentrations 4-fold lower than normal. Single-cell analysis of cotransfected cells shows a significantly increased resting cytoplasmic Ca(2+) level and a significantly reduced luminal Ca(2+) level. These data indicated a leaky channel, possibly caused by a reduction in the Ca(2+) concentration required for channel activation. Comparison with 2 other coexpressed mutant/normal channels suggests that the Thr-4898 mutation produces one of the most abnormal RYR1 channels that has been investigated, and this level of abnormality is reflected in the severe and penetrant phenotype of affected CCD individuals.

    Alternative splice isoforms for RYR1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RYR1 Gene

Proteomics data for RYR1 Gene at MOPED

Post-translational modifications for RYR1 Gene

  • Activated by reversible S-nitrosylation. Repeated very high-level exercise increases S-nitrosylation.
  • Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2843 may increase channel activity. Repeated very high-level exercise increases phosphorylation at Ser-2843.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for RYR1 (RYR1)

No data available for DME Specific Peptides for RYR1 Gene

Domains & Families for RYR1 Gene

Suggested Antigen Peptide Sequences for RYR1 Gene

Graphical View of Domain Structure for InterPro Entry

P21817

UniProtKB/Swiss-Prot:

RYR1_HUMAN :
  • The calcium release channel activity resides in the C-terminal region while the remaining part of the protein constitutes the foot structure spanning the junctional gap between the sarcoplasmic reticulum (SR) and the T-tubule.
  • Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily.
Domain:
  • The calcium release channel activity resides in the C-terminal region while the remaining part of the protein constitutes the foot structure spanning the junctional gap between the sarcoplasmic reticulum (SR) and the T-tubule.
  • Contains 3 B30.2/SPRY domains.
  • Contains 5 MIR domains.
Family:
  • Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily.
genes like me logo Genes that share domains with RYR1: view

Function for RYR1 Gene

Molecular function for RYR1 Gene

GENATLAS Biochemistry:
ryanodine receptor 1,controlling intracellular Ca2+ levels by releasing Ca2+ from the sarcoplasmic reticulum,expressed in skeletal and cardiac muscle,and involved in the control of cellular activities of B cells,triggered by the dehydrine receptor(s)
UniProtKB/Swiss-Prot Function:
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 (By similarity).

Gene Ontology (GO) - Molecular Function for RYR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IEA --
GO:0005219 ryanodine-sensitive calcium-release channel activity IEA,TAS 19095005
GO:0005245 voltage-gated calcium channel activity IEA,ISS --
GO:0005262 calcium channel activity IEA,ISS --
genes like me logo Genes that share ontologies with RYR1: view
genes like me logo Genes that share phenotypes with RYR1: view

Human Phenotype Ontology for RYR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RYR1 Gene

MGI Knock Outs for RYR1:

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for RYR1 Gene

Localization for RYR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RYR1 Gene

Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane protein. Sarcoplasmic reticulum. Note=The number of predicted transmembrane domains varies between orthologs, but both N-terminus and C-terminus seem to be cytoplasmic.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RYR1 Gene COMPARTMENTS Subcellular localization image for RYR1 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 5
plasma membrane 5
cytosol 4
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for RYR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IDA 11206130
GO:0005829 cytosol ISS --
GO:0005887 integral component of plasma membrane TAS 2298749
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with RYR1: view

Pathways & Interactions for RYR1 Gene

genes like me logo Genes that share pathways with RYR1: view

Gene Ontology (GO) - Biological Process for RYR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006816 calcium ion transport IEA,ISS --
GO:0006936 muscle contraction IEA,ISS --
GO:0014808 release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IEA,ISS --
GO:0048741 skeletal muscle fiber development IEA,ISS --
GO:0051209 release of sequestered calcium ion into cytosol IEA,ISS --
genes like me logo Genes that share ontologies with RYR1: view

No data available for SIGNOR curated interactions for RYR1 Gene

Drugs & Compounds for RYR1 Gene

(55) Drugs for RYR1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dantrolene Approved Pharma Antagonist, antagonist, Target 5
Suramin Approved Pharma Antagonist, antagonist, Target, agonist 18
Caffeine Approved Nutra Antagonist, antagonist, Target 349
Procaine Approved, Investigational Pharma Channel blocker, antagonist 43
Halothane Approved Pharma Activator 1

(56) Additional Compounds for RYR1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Dantrolene, sodium salt
14663-23-1
JTV 519 fumarate
Suramin hexasodium salt
129-46-4

(5) Tocris Compounds for RYR1 Gene

Compound Action Cas Number
Dantrolene, sodium salt Ca2+ release inhibitor 14663-23-1
JTV 519 fumarate Ryanodine receptor (RyR) inhibitor
Ruthenium Red Non-selective Ca2+ channel blocker (N- and P-type) 11103-72-3
Ryanodine Ca2+ relase inhibitor 15662-33-6
Suramin hexasodium salt Non-selective P2 antagonist 129-46-4

(1) ApexBio Compounds for RYR1 Gene

Compound Action Cas Number
Chlorocresol 59-50-7
genes like me logo Genes that share compounds with RYR1: view

Transcripts for RYR1 Gene

Unigene Clusters for RYR1 Gene

Ryanodine receptor 1 (skeletal):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RYR1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36a · 36b ^ 37a · 37b ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:

ExUns: 51 ^ 52 ^ 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58a · 58b ^ 59 ^ 60 ^ 61a · 61b · 61c ^ 62 ^ 63 ^ 64 ^ 65 ^ 66 ^ 67 ^ 68 ^ 69 ^ 70
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7: -
SP8:

Relevant External Links for RYR1 Gene

GeneLoc Exon Structure for
RYR1
ECgene alternative splicing isoforms for
RYR1

Expression for RYR1 Gene

mRNA expression in normal human tissues for RYR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RYR1 Gene

This gene is overexpressed in Muscle - Skeletal (x45.0).

Protein differential expression in normal tissues from HIPED for RYR1 Gene

This gene is overexpressed in Testis (24.3), Ovary (14.6), and Tlymphocyte (7.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for RYR1 Gene



SOURCE GeneReport for Unigene cluster for RYR1 Gene Hs.466664

mRNA Expression by UniProt/SwissProt for RYR1 Gene

P21817-RYR1_HUMAN
Tissue specificity: Skeletal muscle and brain (cerebellum and hippocampus).
genes like me logo Genes that share expression patterns with RYR1: view

Primer Products

In Situ Assay Products

No data available for Protein tissue co-expression partners for RYR1 Gene

Orthologs for RYR1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RYR1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RYR1 35
  • 90.91 (n)
  • 95.97 (a)
RYR1 36
  • 96 (a)
OneToOne
dog
(Canis familiaris)
Mammalia RYR1 35
  • 92.12 (n)
  • 97.18 (a)
RYR1 36
  • 96 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ryr1 35
  • 88.23 (n)
  • 95.56 (a)
Ryr1 16
Ryr1 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia RYR1 35
  • 99.36 (n)
  • 99.56 (a)
RYR1 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ryr1 35
  • 88 (n)
  • 95.42 (a)
oppossum
(Monodelphis domestica)
Mammalia RYR1 36
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RYR1 36
  • 94 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 85 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.13303 35
zebrafish
(Danio rerio)
Actinopterygii ryr1a 36
  • 76 (a)
OneToMany
ryr1b 36
  • 76 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rya-r44F 37
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-68 37
  • 40 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.9269 35
Species with no ortholog for RYR1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RYR1 Gene

ENSEMBL:
Gene Tree for RYR1 (if available)
TreeFam:
Gene Tree for RYR1 (if available)

Paralogs for RYR1 Gene

Paralogs for RYR1 Gene

genes like me logo Genes that share paralogs with RYR1: view

Variants for RYR1 Gene

Sequence variations from dbSNP and Humsavar for RYR1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_005589 Malignant hyperthermia 1 (MHS1)
VAR_005590 Central core disease of muscle (CCD)
VAR_005590 Malignant hyperthermia 1 (MHS1)
rs1801086 - 38,446,710(+) ATGAG(A/C/G/T)GGGGA reference, missense
VAR_005592 Malignant hyperthermia 1 (MHS1)

Structural Variations from Database of Genomic Variants (DGV) for RYR1 Gene

Variant ID Type Subtype PubMed ID
nsv833822 CNV Loss 17160897
nsv911658 CNV Loss 21882294
nsv470140 CNV Gain 18288195
nsv911659 CNV Loss 21882294
nsv911660 CNV Gain 21882294
nsv833823 CNV Loss 17160897
dgv3858n71 CNV Loss 21882294
nsv833824 CNV Loss 17160897
nsv911664 CNV Loss 21882294
esv2664482 CNV Deletion 23128226
nsv833826 CNV Loss 17160897
nsv911666 CNV Loss 21882294
nsv2479 CNV Insertion 18451855
esv2718533 CNV Deletion 23290073
esv2718534 CNV Deletion 23290073
nsv833827 CNV Gain 17160897
nsv138081 CNV Insertion 16902084
nsv513526 CNV Insertion 21212237
esv2452159 CNV Insertion 19546169
nsv513527 CNV Insertion 21212237
esv1437952 CNV Insertion 17803354
nsv521114 CNV Loss 19592680

Variation tolerance for RYR1 Gene

Residual Variation Intolerance Score: 0.0301% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.52; 85.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RYR1 Gene

HapMap Linkage Disequilibrium report
RYR1
Human Gene Mutation Database (HGMD)
RYR1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RYR1 Gene

Disorders for RYR1 Gene

MalaCards: The human disease database

(34) MalaCards diseases for RYR1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
central core disease
  • neuromuscular disease, congenital, with uniform type 1 fiber
malignant hyperthermia susceptibility 1
  • king-denborough syndrome
minicore myopathy with external ophthalmoplegia
  • multicore myopathy with external ophthalmoplegia
multiminicore disease
  • minicore myopathy with external ophthalmoplegia
central core myopathy
  • central core disease
- elite association - COSMIC cancer census association via MalaCards
Search RYR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RYR1_HUMAN
  • Central core disease of muscle (CCD) [MIM:117000]: Autosomal dominant congenital myopathy, but a severe autosomal recessive form also exists. Both clinical and histological variability is observed. Affected individuals typically display hypotonia and proximal muscle weakness in infancy, leading to the delay of motor milestones. The clinical course of the disorder is usually slow or nonprogressive in adulthood, and the severity of the symptoms may vary from normal to significant muscle weakness. Microscopic examination of CCD-affected skeletal muscle reveals a predominance of type I fibers containing amorphous-looking areas (cores) that do not stain with oxidative and phosphorylase histochemical techniques. {ECO:0000269 PubMed:10051009, ECO:0000269 PubMed:10097181, ECO:0000269 PubMed:11113224, ECO:0000269 PubMed:11709545, ECO:0000269 PubMed:11741831, ECO:0000269 PubMed:12112081, ECO:0000269 PubMed:12136074, ECO:0000269 PubMed:12565913, ECO:0000269 PubMed:12566385, ECO:0000269 PubMed:12937085, ECO:0000269 PubMed:14670767, ECO:0000269 PubMed:14985404, ECO:0000269 PubMed:17204054, ECO:0000269 PubMed:17226826, ECO:0000269 PubMed:18253926, ECO:0000269 PubMed:18312400, ECO:0000269 PubMed:20142353, ECO:0000269 PubMed:21674524, ECO:0000269 PubMed:23558838, ECO:0000269 PubMed:24561095, ECO:0000269 PubMed:26381711, ECO:0000269 PubMed:7829078, ECO:0000269 PubMed:8220422, ECO:0000269 PubMed:8220423, ECO:0000269 PubMed:9497245}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Malignant hyperthermia 1 (MHS1) [MIM:145600]: Autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia. In susceptible people, an MH episode can be triggered by all commonly used inhalational anesthetics such as halothane and by depolarizing muscle relaxants such as succinylcholine. The clinical features of the myopathy are hyperthermia, accelerated muscle metabolism, contractures, metabolic acidosis, tachycardia and death, if not treated with the postsynaptic muscle relaxant, dantrolene. Susceptibility to MH can be determined with the in vitro contracture test (IVCT): observing the magnitude of contractures induced in strips of muscle tissue by caffeine alone and halothane alone. Patients with normal response are MH normal (MHN), those with abnormal response to caffeine alone or halothane alone are MH equivocal (MHE(C) and MHE(H) respectively). {ECO:0000269 PubMed:10051009, ECO:0000269 PubMed:10484775, ECO:0000269 PubMed:10612851, ECO:0000269 PubMed:10823104, ECO:0000269 PubMed:10888602, ECO:0000269 PubMed:11241852, ECO:0000269 PubMed:11389482, ECO:0000269 PubMed:11525881, ECO:0000269 PubMed:11575529, ECO:0000269 PubMed:11928716, ECO:0000269 PubMed:12059893, ECO:0000269 PubMed:12066726, ECO:0000269 PubMed:12123492, ECO:0000269 PubMed:12208234, ECO:0000269 PubMed:12411788, ECO:0000269 PubMed:12709367, ECO:0000269 PubMed:12883402, ECO:0000269 PubMed:1354642, ECO:0000269 PubMed:14732627, ECO:0000269 PubMed:14985404, ECO:0000269 PubMed:15221887, ECO:0000269 PubMed:15448513, ECO:0000269 PubMed:16163667, ECO:0000269 PubMed:1774074, ECO:0000269 PubMed:19191329, ECO:0000269 PubMed:19685112, ECO:0000269 PubMed:20142353, ECO:0000269 PubMed:20681998, ECO:0000269 PubMed:23558838, ECO:0000269 PubMed:24013571, ECO:0000269 PubMed:26381711, ECO:0000269 PubMed:26631338, ECO:0000269 PubMed:7751854, ECO:0000269 PubMed:7849712, ECO:0000269 PubMed:7881417, ECO:0000269 PubMed:8012359, ECO:0000269 PubMed:9066328, ECO:0000269 PubMed:9138151, ECO:0000269 PubMed:9389851, ECO:0000269 PubMed:9450902, ECO:0000269 PubMed:9497245}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]: Clinically heterogeneous neuromuscular disorder. General features include neonatal hypotonia, delayed motor development, and generalized muscle weakness and amyotrophy, which may progress slowly or remain stable. Muscle biopsy shows multiple, poorly circumscribed, short areas of sarcomere disorganization and mitochondria depletion (areas termed minicores) in most muscle fibers. Typically, no dystrophic signs, such as muscle fiber necrosis or regeneration or significant endomysial fibrosis, are present in multiminicore disease. {ECO:0000269 PubMed:12719381, ECO:0000269 PubMed:16380615}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, congenital, with fiber-type disproportion (CFTD) [MIM:255310]: A genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. {ECO:0000269 PubMed:20583297}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=Defects in RYR1 may be a cause of Samaritan myopathy, a congenital myopathy with benign course. Patients display severe hypotonia and respiratory distress at birth. Unlike other congenital myopathies, the health status constantly improves and patients are minimally affected at adulthood.

Relevant External Links for RYR1

Genetic Association Database (GAD)
RYR1
Human Genome Epidemiology (HuGE) Navigator
RYR1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RYR1
genes like me logo Genes that share disorders with RYR1: view

No data available for Genatlas for RYR1 Gene

Publications for RYR1 Gene

  1. Increasing the number of diagnostic mutations in malignant hyperthermia. (PMID: 19191329) Levano S. … Girard T. (Hum. Mutat. 2009) 3 4 23 48 67
  2. Azumolene inhibits a component of store-operated calcium entry coupled to the skeletal muscle ryanodine receptor. (PMID: 16945924) Zhao X. … Ma J. (J. Biol. Chem. 2006) 23 25 26
  3. Use-dependent inhibition of the skeletal muscle ryanodine receptor by the suramin analogue NF676. (PMID: 16056233) Wolner I. … Hohenegger M. (Br. J. Pharmacol. 2005) 23 25 26
  4. Identification of a dantrolene-binding sequence on the skeletal muscle ryanodine receptor. (PMID: 12167662) Paul-Pletzer K. … Parness J. (J. Biol. Chem. 2002) 23 25 26
  5. Postmortem molecular screening for mutations in ryanodine receptor type 1 (RYR1) gene in psychiatric patients suspected of having died of neuroleptic malignant syndrome. (PMID: 19931341) Sato T. … Suzuki K. (Forensic Sci. Int. 2010) 3 23

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