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    Ryr1 ryanodine receptor 1, skeletal muscle [ Mus musculus (house mouse) ]

    Gene ID: 20190, updated on 6-Aug-2017
    Official Symbol
    Ryr1provided by MGI
    Official Full Name
    ryanodine receptor 1, skeletal muscleprovided by MGI
    Primary source
    MGI:MGI:99659
    See related
    Ensembl:ENSMUSG00000030592 Vega:OTTMUSG00000059211
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Ryr; skrr; RYR-1; AI528790
    Orthologs
    Location:
    7 B1; 7 16.94 cM
    Exon count:
    110
    Annotation release Status Assembly Chr Location
    106 current GRCm38.p4 (GCF_000001635.24) 7 NC_000073.6 (29003340..29125179, complement)
    Build 37.2 previous assembly MGSCv37 (GCF_000001635.18) 7 NC_000073.5 (29788359..29910170, complement)

    Chromosome 7 - NC_000073.6Genomic Context describing neighboring genes Neighboring gene eukaryotic translation initiation factor 3, subunit K Neighboring gene mitogen-activated protein kinase kinase kinase kinase 1 Neighboring gene predicted gene, 38979 Neighboring gene predicted gene, 26604 Neighboring gene microRNA 1963 Neighboring gene RAS guanyl releasing protein 4 Neighboring gene family with sequence similarity 98, member C Neighboring gene sprouty-related, EVH1 domain containing 3

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Apelin signaling pathway, organism-specific biosystem (from KEGG)
      Apelin signaling pathway, organism-specific biosystemApelin is an endogenous peptide capable of binding the apelin receptor (APJ), which was originally described as an orphan G-protein-coupled receptor. Apelin and APJ are widely expressed in various ti...
    • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
      Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
    • Calcium signaling pathway, organism-specific biosystem (from KEGG)
      Calcium signaling pathway, organism-specific biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Calcium signaling pathway, conserved biosystem (from KEGG)
      Calcium signaling pathway, conserved biosystemCa2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this...
    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Circadian entrainment, organism-specific biosystem (from KEGG)
      Circadian entrainment, organism-specific biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
    • Circadian entrainment, conserved biosystem (from KEGG)
      Circadian entrainment, conserved biosystemCircadian entrainment is a fundamental property by which the period of the internal biological clock is entrained by recurring exogenous signals, such that the organism's endocrine and behavioral rhy...
    • Ion channel transport, organism-specific biosystem (from REACTOME)
      Ion channel transport, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Ion homeostasis, organism-specific biosystem (from REACTOME)
      Ion homeostasis, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Long-term depression, organism-specific biosystem (from KEGG)
      Long-term depression, organism-specific biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
    • Long-term depression, conserved biosystem (from KEGG)
      Long-term depression, conserved biosystemCerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Myometrial Relaxation and Contraction Pathways, organism-specific biosystem (from WikiPathways)
      Myometrial Relaxation and Contraction Pathways, organism-specific biosystemThis pathway illustrates signaling networks implicated in uterine muscle contraction at labor and quiescence throughout gestation (pregnancy). The muscle of the uterus, responsible for contractile ac...
    • Oxytocin signaling pathway, organism-specific biosystem (from KEGG)
      Oxytocin signaling pathway, organism-specific biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
    • Oxytocin signaling pathway, conserved biosystem (from KEGG)
      Oxytocin signaling pathway, conserved biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
    • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
      Stimuli-sensing channels, organism-specific biosystemcomputationally inferred pathway (not manually curated)
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystemcomputationally inferred pathway (not manually curated)

    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calcium-induced calcium release activity ISO
    Inferred from Sequence Orthology
    more info
     
    calcium-release channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ion channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
     
    protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ryanodine-sensitive calcium-release channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ryanodine-sensitive calcium-release channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    cellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to ATP ISO
    Inferred from Sequence Orthology
    more info
     
    cellular response to caffeine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to caffeine ISO
    Inferred from Sequence Orthology
    more info
     
    ion transport IEA
    Inferred from Electronic Annotation
    more info
     
    multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
     
    muscle contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    ossification involved in bone maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    outflow tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of cytosolic calcium ion concentration ISO
    Inferred from Sequence Orthology
    more info
     
    regulation of muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    release of sequestered calcium ion into cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    release of sequestered calcium ion into cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    response to caffeine ISO
    Inferred from Sequence Orthology
    more info
     
    response to hypoxia ISO
    Inferred from Sequence Orthology
    more info
     
    sarcoplasmic reticulum calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    skeletal muscle fiber development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    skin development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    transport IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    I band ISO
    Inferred from Sequence Orthology
    more info
     
    T-tubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cell cortex ISO
    Inferred from Sequence Orthology
    more info
     
    cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    extracellular exosome ISO
    Inferred from Sequence Orthology
    more info
     
    extrinsic component of cytoplasmic side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    junctional membrane complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    protein complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcolemma ISO
    Inferred from Sequence Orthology
    more info
     
    sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    sarcoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    smooth endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    terminal cisterna ISO
    Inferred from Sequence Orthology
    more info
     
    Preferred Names
    ryanodine receptor 1
    Names
    calcium release channel
    skeletal muscle calcium release channel
    skeletal muscle ryanodine receptor
    skeletal muscle-type ryanodine receptor
    type 1 ryanodine receptor

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_009109.2NP_033135.2  ryanodine receptor 1

      See identical proteins and their annotated locations for NP_033135.2

      Status: VALIDATED

      Source sequence(s)
      AC164564, AC165142
      Consensus CDS
      CCDS39866.1
      UniProtKB/Swiss-Prot
      E9PZQ0
      Related
      ENSMUSP00000137123.1, OTTMUSP00000075714, ENSMUST00000179893.8, OTTMUST00000145296
      Conserved Domains (12) summary
      smart00472
      Location:212265
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:644795
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10741206
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47624946
      Ion_trans; Ion transport protein
      pfam01365
      Location:445633
      RYDR_ITPR; RIH domain
      pfam02026
      Location:852942
      RyR; RyR domain
      pfam02815
      Location:213391
      MIR; MIR domain
      pfam06459
      Location:43804668
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38833996
      RIH_assoc; RyR and IP3R Homology associated
      pfam13833
      Location:40874137
      EF-hand_8; EF-hand domain pair
      cd12879
      Location:14201568
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl19745
      Location:12205
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

    RefSeqs of Annotated Genomes: Mus musculus Annotation Release 106 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm38.p4 C57BL/6J

    Genomic

    1. NC_000073.6 Reference GRCm38.p4 C57BL/6J

      Range
      29003340..29125179 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006539689.3XP_006539752.1  ryanodine receptor 1 isoform X7

      Related
      ENSMUSP00000032813.9, ENSMUST00000032813.9
      Conserved Domains (12) summary
      smart00472
      Location:212265
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:644795
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10741206
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47574941
      Ion_trans; Ion transport protein
      pfam01365
      Location:445633
      RYDR_ITPR; RIH domain
      pfam02026
      Location:852942
      RyR; RyR domain
      pfam02815
      Location:213391
      MIR; MIR domain
      pfam06459
      Location:43754663
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38783991
      RIH_assoc; RyR and IP3R Homology associated
      pfam13833
      Location:40824132
      EF-hand_8; EF-hand domain pair
      cd12879
      Location:14201568
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl19745
      Location:12205
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    2. XM_017322053.1XP_017177542.1  ryanodine receptor 1 isoform X4

    3. XM_017322052.1XP_017177541.1  ryanodine receptor 1 isoform X3

    4. XM_006539688.3XP_006539751.1  ryanodine receptor 1 isoform X1

      UniProtKB/TrEMBL
      A0A1L1SQG7
      Related
      ENSMUSP00000149042.1, OTTMUSP00000078885, ENSMUST00000214374.1, OTTMUST00000152136
      Conserved Domains (12) summary
      smart00472
      Location:219272
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:651802
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10811213
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47884972
      Ion_trans; Ion transport protein
      pfam01365
      Location:452640
      RYDR_ITPR; RIH domain
      pfam02026
      Location:859949
      RyR; RyR domain
      pfam02815
      Location:220398
      MIR; MIR domain
      pfam06459
      Location:44064694
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38904003
      RIH_assoc; RyR and IP3R Homology associated
      pfam08709
      Location:12212
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
      pfam13833
      Location:41134163
      EF-hand_8; EF-hand domain pair
      cd12879
      Location:14271575
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    5. XM_006539692.3XP_006539755.1  ryanodine receptor 1 isoform X11

      Conserved Domains (12) summary
      smart00472
      Location:219272
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:651802
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10811213
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47584942
      Ion_trans; Ion transport protein
      pfam01365
      Location:452640
      RYDR_ITPR; RIH domain
      pfam02026
      Location:859949
      RyR; RyR domain
      pfam02815
      Location:220398
      MIR; MIR domain
      pfam06459
      Location:43764664
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38793992
      RIH_assoc; RyR and IP3R Homology associated
      pfam08709
      Location:12212
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
      pfam13833
      Location:40834133
      EF-hand_8; EF-hand domain pair
      cd12879
      Location:14271575
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
    6. XM_017322051.1XP_017177540.1  ryanodine receptor 1 isoform X2

    7. XM_017322055.1XP_017177544.1  ryanodine receptor 1 isoform X6

    8. XM_017322054.1XP_017177543.1  ryanodine receptor 1 isoform X5

    9. XM_017322057.1XP_017177546.1  ryanodine receptor 1 isoform X9

    10. XM_017322056.1XP_017177545.1  ryanodine receptor 1 isoform X8

    11. XM_017322058.1XP_017177547.1  ryanodine receptor 1 isoform X10

    RNA

    1. XR_001785496.1 RNA Sequence

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