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RYR1 Gene

protein-coding   GIFtS: 70
GCID: GC19P038924

Ryanodine Receptor 1 (Skeletal)

(Previous name: central core disease of muscle)
(Previous symbols: MHS, MHS1, CCO)
  See RYR1-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ryanodine Receptor 1 (Skeletal)1 2     RYR2
CCO1 2 5     SKRR2
MHS1 2 5     Ryanodine Receptor 12
MHS11 2     Sarcoplasmic Reticulum Calcium Release Channel2
Central Core Disease Of Muscle1 2     Type 1-Like Ryanodine Receptor2
Skeletal Muscle Calcium Release Channel2 3     RyR13
Skeletal Muscle Ryanodine Receptor2 3     Skeletal Muscle-Type Ryanodine Receptor3
RYDR2 3     Type 1 Ryanodine Receptor3
RYR-12 3     

External Ids:    HGNC: 104831   Entrez Gene: 62612   Ensembl: ENSG000001962187   OMIM: 1809015   UniProtKB: P218173   

Export aliases for RYR1 gene to outside databases

Previous GC identifers: GC19P039538 GC19P039315 GC19P043600 GC19P043616 GC19P035371


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 (skeletal)) is a protein-coding gene. Diseases associated with RYR1 include benign samaritan congenital myopathy, and king denborough syndrome. GO annotations related to this gene include protease binding and calcium ion binding. An important paralog of this gene is RYR2.

UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817
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 Wiki entry for RYR1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000019.9  NT_011109.17  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the RYR1 gene promoter:
         AhR   CREB   p53   NRSF form 1   deltaCREB   NRSF form 2   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRYR1 promoter sequence
   Search Chromatin IP Primers for RYR1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RYR1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.1   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.1

RYR1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RYR1 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P038924:  view genomic region     (about GC identifiers)

Start:
38,924,339 bp from pter      End:
39,078,204 bp from pter
Size:
153,866 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817 (See protein sequence)
Recommended Name: Ryanodine receptor 1  
Size: 5038 amino acids; 565176 Da
Subunit: 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)
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)
Miscellaneous: 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
Secondary accessions: Q16314 Q16368 Q9NPK1 Q9P1U4
Alternative splicing: 3 isoforms:  P21817-1   P21817-2   P21817-3   

Explore the universe of human proteins at neXtProt for RYR1: NX_P21817

Explore proteomics data for RYR1 at MOPED

Post-translational modifications: 

  • Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2843 may increase channel activity.
    Repeated very high-level exercise increases phosphorylation at Ser-28431
  • Activated by reversible S-nitrosylation. Repeated very high-level exercise increases S-nitrosylation1
  • Ubiquitination2 at Lys2069
  • Modification sites at PhosphoSitePlus

  • See RYR1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000531.2  NP_001036188.1  

    ENSEMBL proteins: 
     ENSP00000347667   ENSP00000352608   ENSP00000470927   ENSP00000471601   ENSP00000472497  
     ENSP00000470848   ENSP00000471404   ENSP00000472126   ENSP00000354254  
    Reactome Protein details: P21817

    RYR1 Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RYR: Ion channels / Ryanodine receptors

    IUPHAR Guide to PHARMACOLOGY protein family classification: RyR1
    Ryanodine receptor

    Selected InterPro protein domains (see all 14):
     IPR014821 Ins145_P3_rcpt
     IPR003032 Ryanodine_rcpt
     IPR001870 B30.2/SPRY
     IPR011992 EF-hand-dom_pair
     IPR013662 RIH_assoc-dom

    Graphical View of Domain Structure for InterPro Entry P21817

    ProtoNet protein and cluster: P21817

    5 Blocks protein domains:
    IPB000699 Intracellular calcium-release channel
    IPB003608 MIR domain
    IPB009460 Ryanodine Receptor TM 4-6
    IPB013333 Ryanodine receptor signature
    IPB013662 RyR and IP3R Homology associated


    UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817
    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 (By similarity)
    Similarity: Belongs to the ryanodine receptor (TC 1.A.3.1) family. RYR1 subfamily
    Similarity: Contains 3 B30.2/SPRY domains
    Similarity: Contains 5 MIR domains


    Find genes that share domains with RYR1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RYR1_HUMAN, P21817
    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)

         Genatlas biochemistry entry for RYR1:
    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)

         Gene Ontology (GO): Selected molecular function terms (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IEA--
    GO:0005216ion channel activity ----
    GO:0005219ryanodine-sensitive calcium-release channel activity TAS19095005
    GO:0005245voltage-gated calcium channel activity ISS--
    GO:0005262calcium channel activity ISS--
         
    Find genes that share ontologies with RYR1           About GenesLikeMe


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Ryr1):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  growth/size/body  homeostasis/metabolism  integument  limbs/digits/tail 
     mortality/aging  muscle  other  respiratory system  skeleton 

    Find genes that share phenotypes with RYR1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for RYR1: Ryr1tm1Alle Ryr1tm1Tno

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for RYR1
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    4 qRT-PCR Assays for microRNAs that regulate RYR1:
    hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-3714
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RYR1_HUMAN, P21817: Sarcoplasmic reticulum membrane; Multi-pass membrane protein. Membrane; Multi-pass membrane
    protein (Probable). 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: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane4
    cytosol2
    extracellular2
    mitochondrion2
    cytoskeleton1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA11206130
    GO:0005790smooth endoplasmic reticulum TAS2298749
    GO:0005886plasma membrane IDA11206130
    GO:0005887integral component of plasma membrane TAS2298749
    GO:0005938cell cortex IDA11206130

    Find genes that share ontologies with RYR1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RYR1 About   (see all 18)  
    See pathways by source

    SuperPathContained pathways About
    1Activation of cAMP-Dependent PKA
    Activation of cAMP-Dependent PKA0.77
    Activation of PKA through GPCR0.71
    cAMP Pathway0.77
    PKA Signaling0.56
    2Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    3Myometrial Relaxation and Contraction Pathways
    Myometrial Relaxation and Contraction Pathways0.43
    Calcium Regulation in the Cardiac Cell0.43
    4CREB Pathway
    Intracellular Calcium Signaling0.50
    5Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47


    Find genes that share SuperPaths with RYR1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for RYR1 (see all 9)
        Activation of PKA through GPCR
    PKA Signaling
    Netrin Signaling
    Presenilin-Mediated Signaling
    nNOS Signaling in Skeletal Muscle

    1 Cell Signaling Technology (CST) Pathway for RYR1
        Ca, cAMP and Lipid Signaling

    4 GeneGo (Thomson Reuters) Pathways for RYR1
        G-protein signaling G-Protein alpha-s signaling cascades
    Signal transduction cAMP signaling
    Signal transduction PKA signaling
    Signal transduction Calcium signaling

    2 BioSystems Pathways for RYR1
        Myometrial Relaxation and Contraction Pathways
    Calcium Regulation in the Cardiac Cell

    1 Reactome Pathway for RYR1
        Stimuli-sensing channels


    4 Kegg Pathways  (Kegg details for RYR1):
        Calcium signaling pathway
    Circadian entrainment
    Long-term depression
    Oxytocin signaling pathway

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RYR1
    Interactions:

        GeneGlobe Interaction Network for RYR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RYR1 (P218171, 2, 3 ENSP000003526084) via UniProtKB, MINT, STRING, and/or I2D (see all 58)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PLCG1P191742, 3, ENSP000002440074MINT-8112747 I2D: score=3 STRING: ENSP00000244007
    H2AFZP0C0S52, 3MINT-19797 I2D: score=1 
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IDA19120137
    GO:0003151outflow tract morphogenesis ISS--
    GO:0006811ion transport ----
    GO:0006816calcium ion transport ISS--
    GO:0006874cellular calcium ion homeostasis ----

    Find genes that share ontologies with RYR1           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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      Browse compounds at ApexBio 

    Compounds for RYR1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    (-)-Xestospongin CInhibits IP3-mediated Ca2+ release[88903-69-9]
    trans-Ned 19NAADP antagonist; inhibits Ca2+ release[1354235-96-3]
    Ionomycin calcium saltCalcium ionophore[56092-82-1]
    NAADP tetrasodium saltCa2+ mobilizing agent[5502-96-5]
    RyanodineCa2+ release inhibitor[15662-33-6]

    2 HMDB Compounds for RYR1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    MagnesiumMagnesium (see all 2)7439-95-4--

    3 DrugBank Compounds for RYR1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    DantroleneDantrolene Sodium (see all 3)7261-97-4targetantagonist15023108 7488490 12167662 6704779 16945924 12666006 11752352 7362049 9924249
    CaffeineCafeina (see all 7)58-08-2target--17514358
    SuraminBayer 205 (see all 6)145-63-1targetagonist16056233

    9 IUPHAR Ligands for RYR1 (RyR1)    About this table
    LigandTypeActionAffinityPubmed IDs
    ATP
    ActivatorNone--
    ryanodine
    Channel blockerNone--
    suramin
    ActivatorNone--
    procaine
    Channel blockerNone--
    caffeine
    ActivatorNone--
    Ca2+
    AntagonistAntagonist--
    ruthenium red
    Channel blockerNone--
    Mg2+
    AntagonistAntagonist--
    dantrolene
    AntagonistAntagonist--

    98 Novoseek inferred chemical compound relationships for RYR1 gene (see top 10)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ryanodine 98.3 1193 11226332 (5), 12151923 (4), 18353852 (4), 19802526 (4) (see all 99)
    4-chloro-m-cresol 90.6 79 12761215 (10), 16737973 (7), 16601083 (7), 11990295 (3) (see all 23)
    dihydropyridine 88.3 124 11179064 (4), 16302848 (2), 16357209 (2), 18556650 (2) (see all 71)
    calcium 84 1057 19767002 (8), 11964231 (6), 11232598 (5), 11741831 (5) (see all 99)
    pcb 95 83.8 5 19337518 (1)
    caffeine 83.7 109 12151923 (3), 11477079 (3), 11990295 (3), 11360934 (2) (see all 66)
    cyclic adp-ribose 81.2 77 7826401 (4), 12966165 (3), 7925959 (3), 17190906 (2) (see all 28)
    inositol 1,4,5 trisphosphate 78.2 43 18174159 (2), 12921667 (2), 15160398 (1), 15212806 (1) (see all 37)
    dantrolene 77.3 32 12167662 (3), 11585849 (2), 16945924 (2), 15160398 (1) (see all 21)
    ryanodol 76.3 2 10871634 (1), 11331348 (1)
    mhs-2 71.1 1 8395940 (1)
    azumolene 71 3 16945924 (2), 15831441 (1)
    ruthenium 67.9 14 11695987 (1), 18083933 (1), 7806531 (1), 9326287 (1) (see all 14)
    halothane 65.2 22 12151923 (3), 12393358 (3), 1312798 (2), 10643591 (2) (see all 14)
    7-diethylamino-3-(4'-maleimidylphenyl)-4-methylcoumarin 64.9 3 17237236 (1)
    calmodulins 63.8 2 11591164 (1), 10869186 (1)
    tetracaine 63.2 6 17446473 (1), 14634821 (1), 11973361 (1), 15795312 (1) (see all 6)
    tacrolimus 59.8 39 17950843 (3), 10856121 (2), 16405911 (2), 8599646 (1) (see all 19)
    thapsigargin 59.8 10 19411104 (2), 16945924 (1), 20434232 (1), 16467427 (1) (see all 6)
    dm-nitrophen 58.3 1 10398857 (1)
    naadp 55.8 10 12102654 (2), 19541638 (2), 17074764 (1), 16790499 (1) (see all 6)
    cyclopiazonic acid 55.8 2 19458227 (1), 16467427 (1)
    tm 10 53.2 3 14593104 (2)
    succinylcholine 50.4 2 19918671 (1), 19346234 (1)
    atp 50.2 52 19636685 (4), 19303362 (2), 18534980 (2), 10809765 (1) (see all 32)
    amp-pcp 49.1 4 12788371 (1), 12488550 (1), 10512814 (1)
    procaine 44 3 9326287 (1), 17157326 (1), 14566411 (1)
    rapamycin 38.9 10 8635249 (2), 17950843 (2), 14600284 (1), 16405911 (1) (see all 7)
    lipid 37.7 37 15681238 (2), 11040108 (1), 11585849 (1), 11867448 (1) (see all 34)
    sphingosylphosphorylcholine 36.9 8 10556518 (3), 12632186 (2), 19910470 (1)
    inositol triphosphate 34.5 2 17157326 (1), 8387229 (1)
    aroclor 1254 32.4 1 15212806 (1)
    niflumic acid 31.7 3 9374644 (2), 8843711 (1)
    magnesium 31.7 10 12839831 (2), 9160164 (1), 15530142 (1), 19636685 (1) (see all 5)
    adpribose 29.6 1 7925959 (1)
    p-mca 28.9 2 11734659 (1), 17051729 (1)
    naphthoquinone 25.9 3 10220560 (1), 8114670 (1)
    copper(i) 23.2 3 17182746 (2)
    nad+ 22 3 12860382 (2), 7925959 (1)
    peroxy 21.7 1 7849012 (1)
    bzatp 20.3 1 8386621 (1)
    nifedipine 20 1 11720987 (1)
    imidazole 19.8 6 16853946 (3), 15012093 (1), 18956030 (1), 19246375 (1)
    oxygen 17.9 42 19713530 (4), 1653624 (2), 7926003 (2), 20144583 (2) (see all 26)
    pcbs 17.5 5 11208908 (1), 16411661 (1), 19337518 (1), 18954145 (1)
    cysteine 17.4 13 8114670 (2), 11232598 (1), 14535845 (1), 19685112 (1) (see all 9)
    suramin 16.3 9 11179450 (2), 12364321 (2), 16056233 (2), 12609870 (1) (see all 5)
    gsno 15.6 7 15998242 (3), 12509428 (2), 19053230 (1)
    acetylcholine 15.5 6 17307394 (1), 9486861 (1), 15589053 (1), 10768628 (1) (see all 5)
    dithiothreitol 14.3 1 7806531 (1)
    n-ethylmaleimide 12.6 13 11232598 (2), 10601232 (2), 10998412 (2), 9312113 (1) (see all 5)
    perchlorate 11.9 5 9503332 (2), 9374644 (2), 18083933 (1)
    carbachol 11.4 2 10493909 (1)
    neomycin 9.89 4 17879109 (2), 7806531 (1), 10864448 (1)
    hydrogen 8.74 49 16407159 (5), 17023543 (4), 16060655 (4), 16306266 (2) (see all 16)
    inositol 7.39 1 9268725 (1)
    thimerosal 6.27 1 15464060 (1)
    copper 6.03 36 18522804 (4), 19295170 (3), 17008312 (3), 16631971 (3) (see all 10)
    nitric oxide 5.82 66 16099502 (5), 19713530 (4), 20144583 (4), 17194179 (3) (see all 17)
    lead 5.42 2 16056233 (1), 16909197 (1)
    gaba 4.78 1 16467427 (1)
    propionate 3.3 2 8913591 (1)
    pip2 2.08 1 10535676 (1)
    norepinephrine 1.84 1 15795312 (1)
    azide 1.82 6 10455126 (2), 18361486 (1)
    glutamate 1.56 4 7707359 (1), 16239337 (1), 11389482 (1)
    glucose 0.688 7 15033925 (1), 12538591 (1), 10553576 (1), 15978749 (1)
    phospholipid 0.495 8 15963451 (1), 10087041 (1), 12206898 (1), 14613863 (1)
    cyanide 0.35 5 10455126 (4)
    h2o 0.0305 6 16306266 (1), 7926003 (1), 17023543 (1), 18632561 (1) (see all 5)
    2-mercaptoethanol 0 1 7806531 (1)
    chloride 0 3 8913591 (2)
    cadmium 0 1 9508832 (1)
    dids 0 3 12609870 (1), 8843711 (1)
    nadph 0 1 16227345 (1)
    phenol 0 3 15012093 (1), 10603942 (1), 18956030 (1)
    glyceraldehyde 3-phosphate 0 1 9288554 (1)
    purine 0 1 16529557 (1)
    proline 0 2 7707359 (1), 10757649 (1)
    mgcl2 0 1 7826401 (1)
    mgatp 0 1 15041652 (1)
    benzo(a)pyrene 0 2 11179446 (1)
    potassium 0 7 11734659 (1), 15054223 (1), 14593104 (1), 18658224 (1) (see all 5)
    alanine 0 3 11575546 (1), 11964231 (1)
    carvedilol 0 2 16191273 (1), 17448375 (1)
    arginine 0 6 17164295 (1), 19685112 (1), 9389851 (1), 9066328 (1) (see all 5)
    aspartate 0 2 16239337 (1)
    digoxin 0 1 7712023 (1)
    ouabain 0 1 15979760 (1)
    creatinine 0 1 7665184 (1)
    doxorubicin 0 1 10220560 (1)
    serine 0 4 16284304 (1), 7707359 (1), 16120606 (1)
    heparin 0 3 10393102 (1)
    succinate 0 2 1668320 (1), 1327605 (1)
    glutamine 0 4 12586832 (1), 16239337 (1), 15863483 (1)
    h2o2 0 17 17430883 (3), 15998242 (2), 7926003 (2), 8679619 (1) (see all 5)
    nmda 0 8 14600284 (1), 15212806 (1), 15910885 (1), 19747726 (1) (see all 5)
    isoproterenol 0 2 18353852 (1), 12919952 (1)

    9 PharmGKB related drug/compound annotations for RYR1 gene    About this table
    Drug/compound PharmGKB Annotation
    desfluraneCA  
    enfluraneCA  
    etherCA  
    halothaneCA  
    hmg coa reductase inhibitorsCA  
    isofluraneCA  
    methoxyfluraneCA  
    sevofluraneCA  
    succinylcholine  CA  



    Find genes that share compounds with RYR1           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
    About This Section

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    REFSEQ mRNAs for RYR1 gene (2 alternative transcripts): 
    NM_000540.2  NM_001042723.1  

    Unigene Cluster for RYR1:

    Ryanodine receptor 1 (skeletal)
    Hs.466664  [show with all ESTs]
    Unigene Representative Sequence: NM_000540
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355481(uc002oiu.3) ENST00000359596(uc002oit.3) ENST00000594111
    ENST00000594335 ENST00000599547 ENST00000600337 ENST00000601514 ENST00000596431
    ENST00000593322 ENST00000593677 ENST00000360985(uc002oiv.1 uc010xuf.1)

    miRNA
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    Block miRNA regulation of human, mouse, rat RYR1 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate RYR1:
    hsa-miR-3910 hsa-miR-124 hsa-miR-506 hsa-miR-3714
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat RYR1
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    OriGene clones in human, mouse for RYR1 (see all 5)
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): RYR1 (NM_000540)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RYR1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RYR1
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for RYR1
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat RYR1
      QuantiTect SYBR Green Assays in human, mouse, rat RYR1
      QuantiFast Probe-based Assays in human, mouse, rat RYR1

    Additional mRNA sequence: 

    AB209425.1 AF075460.1 AK293785.1 J05200.1 

    10 DOTS entries:

    DT.113052  DT.100019702  DT.121502810  DT.100748838  DT.121502805  DT.65286971  DT.75101790  DT.97788775 
    DT.40260655  DT.91978919 

    Selected AceView cDNA sequences (see all 107):

    BQ962760 BG830167 F31264 AF075460 F34300 F36856 BE764223 NM_000540 
    BM805728 BE764184 BQ185433 AA808825 CB129444 F21877 BQ189108 F15827 
    CA427848 F34519 F24310 J05200 BX283152 BF036839 BE764181 BE764241 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RYR1 (see all 8)    About this scheme

    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:                                                                                                                                                            

    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:                                                                                                                                                            

    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:                                                                                                                                          


    ECgene alternative splicing isoforms for RYR1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    RYR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTTCCTGA
    RYR1 Expression
    About this image


    RYR1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Larynx (Respiratory System)
    RYR1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RYR1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.466664

    UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817
    Tissue specificity: Skeletal muscle and brain (cerebellum and hippocampus)

        Custom PCR Arrays for RYR1
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RYR1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RYR1 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ryr11 , 5 ryanodine receptor 1, skeletal muscle1, 5 88.23(n)1
    95.56(a)1
      7 (16.94 cM)5
    201901  NM_009109.21  NP_033135.21 
     290033405 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    85(a)
    84(a)
    (see all 3)
    many → 1
    many → 1
    (see all 3)
    GL343427.1(594163-627241)
    GL343427.1(685880-727627)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.133032 Transcribed sequence with strong similarity to protein more 85.53(n)    BX726845.1 
    zebrafish
    (Danio rerio)
    Actinopterygii ryr1b6
    ryr1a6
    ryanodine receptor 1a (skeletal)
    76(a)
    76(a)
    many → 1
    many → 1
    18(33835785-34021041) ENSDARG00000023797
    10(34434994-34568619) ENSDARG00000011422
    wheat
    (Triticum aestivum)
    Liliopsida Ta.92692 Triticum aestivum transcribed sequence with weak similarity more 72.17(n)    BQ838200.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for RYR1 gene
    RYR22  ITPR32  ITPR22  ITPR12  RYR32  
    3 SIMAP similar genes for RYR1 using alignment to 11 protein entries:     RYR1_HUMAN (see all proteins):
    RYR3    RyR    RYR2

    Find genes that share paralogs with RYR1           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RYR1 (see all 4900)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1121053811,2,,4
    CMalignant hyperthermia 1 (MHS1)4 --39113181(+) GACTGC/GGAAGG 4 A G mis10--------
    rs1178866181,2,,4
    CMalignant hyperthermia 1 (MHS1)4 untested139133979(+) TACGAC/G/TGGGCT 4 D E mis12EA EU 1401
    rs1416466421,2,,4
    C,FCentral core disease of muscle (CCD)4 untested139135793(+) ATGCAC/G/TGAGAC 4 H Q mis11NA 4552
    rs1472138951,2,,4
    C,FMalignant hyperthermia 1 (MHS1)4 untested139138756(+) CGTCAA/GCGGTG 4 N S mis12Minor allele frequency- G:0.00NA EU 5869
    rs289333961,2,,4
    CMalignant hyperthermia 1 (MHS1)4 pathogenic139139512(+) CGGACA/G/TCTGTG 6 H R L mis1 ese30--------
    rs289333971,2,,4
    CMalignant hyperthermia 1 (MHS1)4 other139140169(+) TCCTCC/TGCTCC 4 R C mis1 ese30--------
    rs351805841,2,,4
    C,FMalignant hyperthermia 1 (MHS1)4 other139144843(+) GAAGAC/GCCACC 4 T S mis16Minor allele frequency- G:0.01NA WA EU 5941
    rs1379321991,2,,4
    C,FCentral core disease of muscle (CCD)4 untested139158842(+) GCTGCG/ACAAGA 4 /H /R mis11Minor allele frequency- A:0.00NA 4510
    rs1439878571,2,,4
    C,FCentral core disease of muscle (CCD)4 untested139165043(+) GACCCG/ATTACG 4 /H /R mis12Minor allele frequency- A:0.00NA EU 5619
    rs1471363391,2,,4
    C,FCentral core disease of muscle (CCD)4 untested139183101(+) CTTCTA/GCTGGT 4 Y C mis11Minor allele frequency- G:0.00NA 4548

    HapMap Linkage Disequilibrium report for RYR1 (38924339 - 39078204 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for RYR1 (see all 22):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664482CNV Deletion23128226
    esv2718533CNV Deletion23290073
    esv2718534CNV Deletion23290073
    nsv513527CNV Insertion21212237
    nsv513526CNV Insertion21212237
    esv1437952CNV Insertion17803354
    esv2452159CNV Insertion19546169
    nsv138081CNV Insertion16902084
    nsv2479CNV Insertion18451855
    dgv3858n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): RYR1
    Locus Specific Mutation Databases (LSDB): RYR1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RYR1
    DNA2.0 Custom Variant and Variant Library Synthesis for RYR1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 180901   
    OMIM disorders: 145600  117000  255320  
    UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817
  • 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). Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • 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. 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. 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. 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

  • Selected diseases for RYR1 (see all 23):    
    About MalaCards
    benign samaritan congenital myopathy    king denborough syndrome    congenital neuromuscular disease with uniform type 1 fiber    minicore myopathy with external ophthalmoplegia
    ryr1-related multiminicore disease    malignant hyperthermia susceptibility type 1    malignant hyperthermia susceptibility    ryr1-related congenital fiber-type disproportion
    central core myopathy    neuromuscular disease    ryr1-related malignant hyperthermia susceptibility    multiminicore disease
    myopathy, congenital, with fiber-type disproportion 1    malignant hyperthermia    centronuclear myopathy    ophthalmoplegia
    hypokalemic periodic paralysis    congenital fiber-type disproportion    catecholaminergic polymorphic ventricular tachycardia    myasthenia gravis

    4 diseases from the University of Copenhagen DISEASES database for RYR1:
    Malignant hyperthermia     Myopathy     Thymoma     Neuropathy

    Find genes that share disorders with RYR1           About GenesLikeMe

    Selected Novoseek inferred disease relationships for RYR1 gene (see all 36)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    central core disease 96.4 114 12565913 (4), 17538032 (2), 12883401 (2), 11741831 (2) (see all 65)
    myopathy, congenital 86.4 20 17483490 (2), 11274444 (1), 14670767 (1), 15564033 (1) (see all 13)
    ventricular tachycardia, catecholaminergic polymorphic 75 7 15951021 (1), 19167631 (1), 18006483 (1), 18362417 (1) (see all 7)
    muscle contracture 71 2 1341035 (1), 19807743 (1)
    contracture 70.7 14 12151923 (3), 18564801 (2), 9334205 (1), 7633940 (1) (see all 6)
    myopathy 69.7 45 16940308 (3), 17190947 (3), 17033962 (3), 18171678 (2) (see all 24)
    myasthenia gravis 59.8 22 8021674 (5), 7499495 (1), 9397486 (1), 17536276 (1) (see all 13)
    thymoma 56.5 48 7499495 (5), 10896269 (5), 11182151 (4), 9736058 (4) (see all 17)
    hypokalemic periodic paralysis 49.5 2 9307247 (1), 15336973 (1)
    myopathies nemaline 48.4 3 12565913 (1), 15336973 (1), 18312400 (1)

    GeneTests: RYR1
    GeneReviews: RYR1
    Genetic Association Database (GAD): RYR1
    Human Genome Epidemiology (HuGE) Navigator: RYR1 (10 documents)

    Export disorders for RYR1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RYR1 gene, integrated from 10 sources (see all 888):
    (articles sorted by number of sources associating them with RYR1)
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    1. Increasing the number of diagnostic mutations in malignant hyperthermia. (PubMed id 19191329)1, 2, 4, 9 Levano S....Girard T. (Hum. Mutat. 2009)
    2. The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia. (PubMed id 7881417)1, 2, 4, 9 Phillips M.S....McLennan D.H. (Hum. Mol. Genet. 1994)
    3. Malignant hyperthermia in North America: genetic screening of the three hot spots in the type I ryanodine receptor gene. (PubMed id 15448513)1, 2, 4 Sei Y.... Muldoon S.M. (Anesthesiology 2004)
    4. 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. (PubMed id 12059893)1, 2, 4 Rueffert H.... Froster U.G. (Acta Anaesthesiol. Scand. 2002)
    5. Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores. (PubMed id 7829078)1, 2, 4 Quane K.A....McCarthy T.V. (Genomics 1994)
    6. 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. (PubMed id 11741831)2, 4, 9 Tilgen N....Treves S. (Hum. Mol. Genet. 2001)
    7. Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with cores. (PubMed id 18253926)1, 2, 9 Monnier N.... Lunardi J. (Hum. Mutat. 2008)
    8. Genetic variation in RYR1 and malignant hyperthermia phenotypes. (PubMed id 19648156)1, 4, 9 Carpenter D....Hopkins P.M. (Br J Anaesth 2009)
    9. Detection of a novel ryanodine receptor subtype 1 mutation (R328W) in a malignant hyperthermia family by sequencing of a leukocyte transcript. (PubMed id 12883402)2, 4, 9 Loke J.C.P....MacLennan D.H. (Anesthesiology 2003)
    10. Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. (PubMed id 11709545)1, 2, 9 Monnier N.... Lunardi J. (Hum. Mol. Genet. 2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 6261 HGNC: 10483 AceView: RYR1 Ensembl:ENSG00000196218 euGenes: HUgn6261
    ECgene: RYR1 Kegg: 6261 H-InvDB: RYR1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RYR1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=RYR1[genesymbol]
    Wikipedia http://en.wikipedia.org/wiki/Ryanodine_receptor
    Wikipedia http://en.wikipedia.org/wiki/RYR1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RYR1 gene:
    Search GeneIP for patents involving RYR1

    GeneCards and IP:
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