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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

RYR1 Gene

protein-coding   GIFtS: 68
GCID: GC19P038924

ryanodine receptor 1 (skeletal)

(Previous name: central core disease of muscle )
(Previous symbols: MHS, MHS1, CCO)
 Explore 57 diseases affiliated with
RYR1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for RYR1    

Aliases
for RYR1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Ryanodine Receptor 1 (Skeletal)1 2     RYDR2 3
CCO1 2 5     RYR-12 3
MHS1 2 5     SKRR2
MHS11 2     Ryanodine Receptor 12
RYR1 2     Ryanodine Receptor Type12
Central Core Disease Of Muscle1 2     Sarcoplasmic Reticulum Calcium Release Channel2
Skeletal Muscle Calcium Release Channel2 3     Type 1-Like Ryanodine Receptor2
Skeletal Muscle Ryanodine Receptor2 3     RyR13
Type 1 Ryanodine Receptor2 3     Skeletal Muscle-Type Ryanodine Receptor3

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


Summaries
for RYR1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for RYR1:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011109.16  
Regulatory elements:
   SABiosciences 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 plasmid: RYR1 promoter sequence
   Search SABiosciences Chromatin IP Primers for RYR1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
 38,924,340 bp from pter      End:
 39,078,204 bp from pter
Size:
 153,865 bases      Orientation:
 plus strand

Proteins
for RYR1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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)
Subcellular location: 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
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P21817

    • RYR1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000352608   ENSP00000347667   ENSP00000354254  
    Reactome Protein details: P21817
    Human Recombinant Protein Products: 
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    Uscn Proteins for RYR1

    Gene Ontology (GO): 5/14 cellular component terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005624membrane fraction ----
    GO:0005737cytoplasm IDA11206130
    GO:0005790smooth endoplasmic reticulum TAS2298749
    GO:0005886plasma membrane IDA11206130
    GO:0005887integral to plasma membrane TAS2298749


    RYR1 for ontologies           About GeneDecksing



    RYR1 Antibody Products: 
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    ThermoFisher Antibody for RYR1

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    Uscn ELISAs and CLIAs for RYR1

    Protein Domains /
    Families
    for RYR1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    RYR1 for domains           About GeneDecksing

    5/14 InterPro domains/families (see all 14):
     IPR014821 Ins145_P3_rcpt
     IPR003032 Ryanodine_rcpt
     IPR001870 B30.2/SPRY
     IPR011992 EF-hand-like_dom
     IPR000699 Ca-rel_channel

    Graphical View of Domain Structure for InterPro Entry P21817

    ProtoNet protein and cluster: P21817

    5 Blocks protein families:
    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


    Function
    for RYR1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

         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)

    miRNA
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    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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RYR1 (see all 4)
    OriGene shRNA RFP: RYR1
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RYR1

    Gene Editing
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    Clone
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    Cell Line
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    Search LifeMap BioReagents cell lines for RYR1

    In Situ Assay
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    Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002020protease binding IEA--
    GO:0004872receptor activity ----
    GO:0005219ryanodine-sensitive calcium-release channel activity TAS19095005
    GO:0005245voltage-gated calcium channel activity ISS--
    GO:0005262calcium channel activity ISS--


    RYR1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for RYR1: Ryr1tm1Alle Ryr1tm1Tno
         15 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Ryr1):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  craniofacial 
     digestive/alimentary  growth/size  homeostasis/metabolism  integument  limbs/digits/tail 
     mortality/aging  muscle  other  respiratory system  skeleton 

    RYR1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for RYR1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Activation of cAMP-Dependent PKA
    		Activation of cAMP-Dependent PKA1.00
    		Activation of PKA through GPCR0.71
    		cAMP Pathway0.77
    		PKA Signaling0.56
    2G Protein Signaling Pathways
    		Signal transduction cAMP signaling0.44
    		Signal transduction_PKA signaling0.23
    		Signal transduction_cAMP signaling0.44
    		Signal transduction PKA signaling0.23
    3Ion channel transport
    		Ion channel transport1.00
    		Stimuli-sensing channels0.49
    4Signal transduction Calcium signaling
    		Signal transduction Calcium signaling1.00
    		Signal transduction_Calcium signaling0.97
    5Calcium Regulation in the Cardiac Cell
    		Calcium Regulation in the Cardiac Cell1.00
    		Myometrial Relaxation and Contraction Pathways0.43

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    4 EMD Millipore Pathways for RYR1
        Signal transduction Calcium signaling
    G-protein signaling G-Protein alpha-s signaling cascades
    Signal transduction cAMP signaling
    Signal transduction PKA signaling

    5/9 Downloadable PowerPoint Slides of QIAGEN 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

    3        Reactome Pathways for RYR1
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport


    2         Kegg Pathways  (Kegg details for RYR1):
        Calcium signaling pathway
    Long-term depression


    RYR1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for RYR1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 23)

    48/52 Interacting proteins for RYR1 (P218171, 2, 3 ENSP000003526084) via UniProtKB, MINT, STRING, and/or I2D (see all 52) (see top 5)
    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 
    GRB2P629933, ENSP000003390074I2D: score=2 STRING: ENSP00000339007
    HOMER1Q86YM73, ENSP000003343824I2D: score=2 STRING: ENSP00000334382
    HOMER3Q9NSC53, ENSP000003481504I2D: score=2 STRING: ENSP00000348150
    S100A1P232973, ENSP000002921694I2D: score=2 STRING: ENSP00000292169
    CACNA1SQ136983, ENSP000003551924I2D: score=1 STRING: ENSP00000355192
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    FKBP1AP629423, ENSP000003711384I2D: score=2 STRING: ENSP00000371138
    RYR2Q927363, ENSP000003555334I2D: score=2 STRING: ENSP00000355533
    HOMER2Q9NSB83, ENSP000003056324I2D: score=2 STRING: ENSP00000305632
    PRKG1Q139763, ENSP000003630924I2D: score=1 STRING: ENSP00000363092
    TFP027873, ENSP000002649984I2D: score=1 STRING: ENSP00000264998
    NCK1P163333, ENSP000002889864I2D: score=2 STRING: ENSP00000288986
    TRDNQ130613I2D: score=2 
    MYOM2P542961EBI-1221290,EBI-5357134
    BST1ENSP000002650164STRING: ENSP00000265016
    CACNA1AENSP000003533624STRING: ENSP00000353362
    CD38ENSP000002262794STRING: ENSP00000226279
    CAMK2GENSP000003190604STRING: ENSP00000319060
    JPH1ENSP000003444884STRING: ENSP00000344488
    JPH2ENSP000003620714STRING: ENSP00000362071
    JPH3ENSP000002842624STRING: ENSP00000284262
    RYR3ENSP000003738844STRING: ENSP00000373884
    --ENSP000003812274STRING: ENSP00000381227
    --Q9CQE02MINT-19678
    --Q9JK422MINT-19543
    --P478022MINT-19568
    --O704942MINT-19794
    --Q132803I2D: score=1 
    --Q9R1V72MINT-19549
    --Q9DB752MINT-19533
    --O551082MINT-19559
    --P390542MINT-19850
    --Q8R5B32MINT-19587
    --Q7TNC42MINT-19765
    --P630892MINT-19571
    --Q8BP922MINT-19503
    --P490702MINT-19528
    --Q920A72MINT-19694
    --Q9D2R62MINT-19714
    --P185722MINT-19860
    --Q9D0S92MINT-19536
    --Q9JK382MINT-19704
    --O351492MINT-19811
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IDA19120137
    GO:0003151outflow tract morphogenesis ISS--
    GO:0006816calcium ion transport ISS--
    GO:0006936muscle contraction ISS--
    GO:0014808release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS--


    RYR1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for RYR1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    RYR1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for RYR1

    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

    10/98 Novoseek chemical compound relationships for RYR1 gene (see all 98)    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)

    1 PharmGKB related drug/compound annotation for RYR1 gene
    Drug/compound PharmGKB Annotation
    hmg coa reductase inhibitorsCA  
    About this table

    Search CenterWatch for drugs/clinical trials and news about RYR1 

    Transcripts
    for RYR1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000359596(uc002oit.3) ENST00000355481(uc002oiu.3) ENST00000360985(uc002oiv.1 uc010xuf.1)


    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RYR1
    4 QIAGEN miScript miRNA 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
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for RYR1 (see all 4)
    OriGene shRNA RFP: RYR1
    OriGene siRNA: RYR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RYR1
    Clone
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    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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    Browse OriGene validated miRNA SYBR primer pairs
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RYR1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RYR1

    Additional cDNA 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 

    24/107 AceView cDNA sequences (see all 107):

    BE764184 BQ185433 BM805728 F34519 CB129444 BQ962760 F34300 AA808825 
    NM_000540 F31264 BQ189108 F15827 BG830167 CA427848 BE764223 F21877 
    F36856 AF075460 F00754 BE764204 BI457578 BI000785 BE764174 AI382958 

    GeneLoc Exon Structure

    5/8 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

    Expression
    for RYR1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    RYR1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTTTTCCTGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    RYR1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    AdiposeInterscapular Brown Adipose DepotAdipose
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See RYR1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for RYR1

    SOURCE GeneReport for Unigene cluster: Hs.466664

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

        SABiosciences Custom PCR Arrays for RYR1
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    In Situ
    Assay Products:     
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    Orthologs
    for RYR1 gene

    (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
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RYR1 gene from 7/22 species (see all 22)    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 88.55(n)1
    96.02(a)1    		   7 (16.94 cM)5
    201901  NM_009109.21  NP_033135.21 
     290033405 
    lizard
    (Anolis carolinensis)    		 Reptilia --
    --
    (see all 3)    		 --
    		 86(a)
    84(a)
    (see all 3)    		 many → 1
    many → 1
    (see all 3)    		 GL343427.1(685880-727627)
    GL343427.1(594163-625539)
    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 ryr1b1 ryanodine receptor 1b (skeletal) 71.86(n)
    78(a)    		   570245  NM_001102571.1  NP_001096041.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta Rya-r44F3 muscle contraction ryanodine-sensitive
    calcium-release more    		 57(a)   44F2   --
    worm
    (Caenorhabditis elegans)    		 Secernentea unc-683 ryanodine receptor 40(a)   V(6904616-6926793)   --
    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
    for RYR1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for RYR1 gene
    RYR22  ITPR32  ITPR22  ITPR12  RYR32  
    2 SIMAP similar genes for RYR1 using alignment to 11 protein entries:     RYR1_HUMAN (see all proteins):
    RYR3    RYR2

    RYR1 for paralogs           About GeneDecksing



    Genomic Variants
    for RYR1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3652 NCBI SNPs in RYR1 are shown (see all 3652)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 19 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1181921601,2
    		Cnon-pathogenic38933001(+) CCCCCA/GATCTG 4 N D mis10--------
    rs1181921131,2
    		Cnon-pathogenic38933035(+) GCAGTA/CCCTGT 4 Y S mis10--------
    rs1181921151,2
    		Cnon-pathogenic38937124(+) GACGGA/GAGGTC 4 E G mis10--------
    rs1181921171,2
    		Cnon-pathogenic38942486(+) CCGCAC/TGATCC 4 T M mis10--------
    rs1181921181,2
    		Cnon-pathogenic38943494(+) GGGCTC/TGGGGC 4 S L mis10--------
    rs1181921191,2
    		Cnon-pathogenic38945968(+) CAGCCA/GAGTCC 4 K E mis10--------
    rs1181921201,2
    		Cnon-pathogenic38973951(+) CAGCCA/GCCATG 4 T A mis10--------
    rs1181921211,2
    		Cnon-pathogenic38987550(+) TTGACA/CACAAT 4 N H mis10--------
    rs1181921241,2
    		Cnon-pathogenic38991276(+) CCCTGC/TGGATC 4 R W mis10--------
    rs1181921231,2
    		Cnon-pathogenic38991280(+) GCGGAC/TCCGCG 4 T I mis10--------

    HapMap Linkage Disequilibrium report for RYR1 (38924340 - 39078204 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for RYR1
         1 CNV: 50139
         1 Indel: 102838
    Human Gene Mutation Database (HGMD): RYR1

    Locus Specific Mutation Databases (LSDB): RYR1

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    Disorders / Diseases
    for RYR1 gene

    (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
    RYR1 for disorders           About GeneDecksing

    OMIM gene information: 180901   
    OMIM disorders: 145600  117000  255320  
    UniProtKB/Swiss-Prot: RYR1_HUMAN, P21817
  • Defects in RYR1 are the cause of malignant hyperthermia susceptibility type 1 (MHS1) [MIM:145600]. MH is an
    • 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)
  • Defects in RYR1 are a cause of central core disease of muscle (CCD) [MIM:117000]. CCD is an 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
  • Defects in RYR1 are the cause of multiminicore disease with external ophthalmoplegia (MMDO) [MIM:255320]; also
    • known as multicore myopathy with external ophthalmoplegia or minicore myopathy with external ophthalmoplegia. MMD is a
    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
  • Defects in RYR1 are a cause of congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]; also
    • known as congenital fiber-type disproportion myopathy (CFTDM). CFTD is 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=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

    20/57 diseases for RYR1 (see all 57):    About MalaCards
    minicore myopathy with external ophthalmoplegia    malignant hyperthermia susceptibility    malignant hyperthermia    3-methylglutaconic aciduria
    congenital neuromuscular disease with uniform type 1 fiber    arrhythmogenic right ventricular dysplasia    myopathy    congenital fiber-type disproportion
    ophthalmoplegia    3 methylglutaconic aciduria type iv    hypokalemic periodic paralysis    king denborough syndrome
    malignant hyperthermia susceptibility type 1    central core myopathy    mitochondrial encephalomyopathy    ventricular tachycardia
    centronuclear myopathy    neuromuscular disease    myotonic dystrophy    myasthenia gravis

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

    10/36 Novoseek 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
    Central Core Disease
    Multiminicore Disease
    Malignant Hyperthermia Susceptibility

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

    Export disorders for RYR1 gene to outside databases

    Publications
    for RYR1 gene

    (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)
    About This Section

    PubMed articles for RYR1 gene, integrated from 9 sources (see all 866):
    (articles sorted by number of sources associating them with RYR1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (1994)
    2. 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. (2004)
    3. 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. (2002)
    4. 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. (1994)
    5. 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. (2001)
    6. 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. (2008)
    7. 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....MacLennan D.H. (2003)
    8. 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. (2001)
    9. Increasing the number of diagnostic mutations in malignant hyperthermia. (PubMed id 19191329)1, 2, 9 Levano S....Girard T. (2009)
    10. Central core disease is due to RYR1 mutations in more than 90% of patients. (PubMed id 16621918)1, 3, 9 Wu S....Nishino I. (2006)

    External Searches for RYR1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
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    Genome Databases showing RYR1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6261 HGNC: 10483 AceView: RYR1 Ensembl:ENSG00000196218 euGenes: HUgn6261
    ECgene: RYR1 Kegg: 6261 H-InvDB: RYR1

    Other Databases showing RYR1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing RYR1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for RYR1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/RYR1
    Wikipedia http://en.wikipedia.org/wiki/Ryanodine_receptor
    Wikipedia http://en.wikipedia.org/wiki/RYR1

    Intellectual Property
    for RYR1 gene

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    Products
    for RYR1 gene

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    Advanced Cell Diagnostics
    About This Section

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