Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

RYR1 Gene

protein-coding   GIFtS: 70
GCID: GC19P038924

Ryanodine Receptor 1 (Skeletal)

(Previous name: central core disease of muscle)
(Previous symbols: MHS, MHS1, CCO)
Alzheimer's & Parkinson's Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 malignant hyperthermia, and malignant hyperthermia susceptibility, and among its related super-pathways are Activation of cAMP-Dependent PKA and Stimuli-sensing channels. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.2  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 plasmidRYR1 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:
38,924,339 bp from pter      End:
39,078,204 bp from pter
Size:
153,866 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for RYR1 at MOPED 

Post-translational modifications:

  • UniProtKB: Channel activity is modulated by phosphorylation. Phosphorylation at Ser-2843 may increase channel activity.
    Repeated very high-level exercise increases phosphorylation at Ser-2843
  • UniProtKB: Activated by reversible S-nitrosylation. Repeated very high-level exercise increases S-nitrosylation
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P21817

  • RYR1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    RYR1 Protein Expression
    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
    Human Recombinant Protein Products for RYR1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for RYR1
    GenScript Custom Purified and Recombinant Proteins Services for RYR1
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for RYR1 

    Gene Ontology (GO): 5/15 cellular component terms (GO ID links to tree view) (see all 15):    About this table

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

    RYR1 for ontologies           About GeneDecksing



    RYR1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of RYR1
    Browse R&D Systems for Antibodies
    Cell Signaling Technology (CST) Antibodies for RYR1 
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for RYR1
    GenScript Custom Superior Antibodies Services for RYR1
    Novus Biologicals RYR1 Antibodies
    Abcam antibodies for RYR1
    Cloud-Clone Corp. Antibodies for RYR1 
    ThermoFisher Antibody for RYR1
    LSBio Antibodies in human, mouse, rat for RYR1 

    Assay Products for RYR1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for RYR1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for RYR1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for RYR1 
    Cloud-Clone Corp. CLIAs for RYR1


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

    IUPHAR Guide to PHARMACOLOGY protein family classification: RyR1 
    Ryanodine receptor

    5/14 InterPro protein domains (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 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


    RYR1 for domains           About GeneDecksing


    (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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/10 molecular function terms (GO ID links to tree view) (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--
         
    RYR1 for ontologies           About GeneDecksing


    Phenotypes:
         15 MGI mutant phenotypes (inferred from 9 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

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for RYR1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RYR1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for RYR1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RYR1 

    miRNA
    Products:
        
    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 RNAi products in human, mouse, rat for RYR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RYR1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for RYR1


    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    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)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for RYR1
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RYR1

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for RYR1
    Search LifeMap BioReagents cell lines for RYR1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RYR1


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for RYR1 About   (see all 17)                                                                                              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 transport0.49
    Stimuli-sensing channels0.49
    3Calcium Regulation in the Cardiac Cell
    Myometrial Relaxation and Contraction Pathways0.43
    Calcium Regulation in the Cardiac Cell0.43
    4CREB Pathway
    Intracellular Calcium Signaling0.50
    5SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    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


    3         Kegg Pathways  (Kegg details for RYR1):
        Calcium signaling pathway
    Circadian entrainment
    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): 5/17 biological process terms (GO ID links to tree view) (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 ----

    RYR1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, 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
    Browse drugs & compounds from Enzo Life Sciences

    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--

    10/98 Novoseek inferred 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    About this table
    Drug/compound PharmGKB Annotation
    hmg coa reductase inhibitorsCA  

    Search CenterWatch for drugs/clinical trials and news about RYR1

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, 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
    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
    Products:
         
    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 RNAi products in human, mouse, rat for RYR1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RYR1
    Clone
    Products:
         
    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
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for RYR1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RYR1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RYR1
      QIAGEN 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 

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

    BE764184 NM_000540 F34300 F21877 F31264 BE764223 CB129444 BG830167 
    AA808825 CA427848 F15827 BM805728 F36856 BQ962760 AF075460 F34519 
    BQ189108 BQ185433 BE764201 AI382958 F00754 J05200 BE764204 BE764241 

    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

    (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)      RYR1 embryonic expression: see
    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 
     5/3 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)

    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
    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for RYR1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat RYR1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RYR1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RYR1
    In Situ
    Assay Products:
     

     
    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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RYR1 gene from 5/14 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 88.55(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 4)
    Uncharacterized protein
    (see all 4)
    85(a)
    83(a)
    (see all 4)
    possible ortholog
    possible ortholog
    (see all 4)
    GL343427.1(685880-727627)
    GL343427.1(594163-627241)
    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 
    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
    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

    RYR1 for paralogs           About GeneDecksing



    (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) 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

    10/4900 SNPs in RYR1 are shown (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
    ----------
    VAR_0457784
    Central core disease of muscle (CCD)4--see VAR_0457782 I M mis40--------
    VAR_0457544
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457542 L P mis40--------
    VAR_0055924
    Malignant hyperthermia 1 (MHS1)4--see VAR_0055922 G R mis40--------
    VAR_0457454
    Central core disease of muscle (CCD)4--see VAR_0457452 H P mis40--------
    VAR_0457294
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457292 R W mis40--------
    VAR_0457124
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457122 V L mis40--------
    VAR_0457034
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457032 D V mis40--------
    VAR_0457204
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457202 E G mis40--------
    VAR_0457604
    Malignant hyperthermia 1 (MHS1)4--see VAR_0457602 V I mis40--------
    VAR_0456994
    Malignant hyperthermia 1 (MHS1)4--see VAR_0456992 D N mis40--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/22 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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
  • Congenital myopathy with fiber-type disproportion (CFTD) [MIM:255310]: 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

  • 20/57 diseases for RYR1 (see all 57):    About MalaCards
    malignant hyperthermia    malignant hyperthermia susceptibility    king denborough syndrome    congenital neuromuscular disease with uniform type 1 fiber
    central core myopathy    ryr1-related multiminicore disease    ryr1-related malignant hyperthermia susceptibility    benign samaritan congenital myopathy
    minicore myopathy with external ophthalmoplegia    malignant hyperthermia susceptibility type 1    neuromuscular disease    multiminicore disease
    rod myopathy    centronuclear myopathy    ophthalmoplegia    congenital fiber-type disproportion
    hypokalemic periodic paralysis    3-methylglutaconic aciduria    myasthenia gravis    paralysis

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

    RYR1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/36 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)
    About This Section

    PubMed articles for RYR1 gene, integrated from 9 sources (see all 878):
    (articles sorted by number of sources associating them with RYR1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Increasing the number of diagnostic mutations in malignant hyperthermia. (PubMed id 19191329)1, 2, 4, 9 Levano S....Girard T. (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. (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. (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. (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. (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. (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. (2008)
    8. Genetic variation in RYR1 and malignant hyperthermia phenotypes. (PubMed id 19648156)1, 4, 9 Carpenter D....Hopkins P.M. (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....MacLennan D.H. (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. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (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

    (According to HUGE)
    About This Section
      --

    (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

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     Browse for Gene Knock-down Tools from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of RYR1
     Browse Small Molecules at EMD Millipore
     Browse Purified and Recombinant Proteins at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse Kits and Assays available from EMD Millipore
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for RYR1  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for RYR1  
     OriGene qSTAR qPCR primer pairs in human, mouse for RYR1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     Browse OriGene ORF clones   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for RYR1   OriGene Custom Protein Services for RYR1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat RYR1
     QIAGEN SeqTarget long-range PCR primers for resequencing RYR1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RYR1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RYR1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RYR1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RYR1
     GenScript Custom Purified and Recombinant Proteins Services for RYR1 GenScript cDNA clones with any tag delivered in your preferred vector for RYR1
     GenScript Custom Assay Services for RYR1 GenScript Custom Superior Antibodies Services for RYR1
     GenScript Custom overexpressing Cell Line Services for RYR1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Antibodies & Assays for RYR1 

     Regulatory tfbs in RYR1 promoter
     Search Chromatin IP Primers for RYR1
     RT2 qPCR Primer Assay in human, mouse, rat RYR1
     GNC Network for RYR1
     SABiosciences PCR Arrays including human, mouse, rat RYR1
     Tocris compounds for RYR1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     RYR1 antibodies
     Antibodies for RYR1
     See all of Abcam's Antibodies, Kits and Proteins for RYR1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for RYR1
     Antibodies for RYR1
     ELISAs for RYR1
     CLIAs for RYR1
     Search LifeMap BioReagents cell lines for RYR1
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RYR1
     Browse SwitchGear 3'UTR luciferase reporter plasmids for RYR1
     SwitchGear Promoter luciferase reporter plasmids for RYR1
     ThermoFisher Antibody for RYR1
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat RYR1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for RYR1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for RYR1
    Customized:
     lentivirus for stable overexpression
     lentivirus expression plasmids for stable overexpression
     adenovirus for overexpression
     LSBio Antibodies in human, mouse, rat for RYR1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      RYR1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4