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

    Gene ID: 20190, updated on 9-Dec-2024

    Summary

    Official Symbol
    Ryr1provided by MGI
    Official Full Name
    ryanodine receptor 1, skeletal muscleprovided by MGI
    Primary source
    MGI:MGI:99659
    See related
    Ensembl:ENSMUSG00000030592 AllianceGenome:MGI:99659
    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
    Summary
    Enables protease binding activity; ryanodine-sensitive calcium-release channel activity; and voltage-gated calcium channel activity. Involved in several processes, including cellular response to caffeine; release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; and skeletal muscle fiber development. Acts upstream of or within muscle contraction and release of sequestered calcium ion into cytosol. Located in T-tubule; sarcoplasmic reticulum membrane; and smooth endoplasmic reticulum. Part of junctional membrane complex. Is expressed in several structures, including brain; embryo mesenchyme; endocrine gland; heart; and skeletal musculature. Used to study congenital myopathy 1A; congenital myopathy 1B; and malignant hyperthermia. Human ortholog(s) of this gene implicated in congestive heart failure (multiple); intracranial vasospasm; and muscle tissue disease (multiple). Orthologous to human RYR1 (ryanodine receptor 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in mammary gland adult (RPKM 14.4), limb E14.5 (RPKM 5.1) and 8 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Ryr1 in Genome Data Viewer
    Location:
    7 B1; 7 16.94 cM
    Exon count:
    108
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (28702765..28824599, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (29003340..29125179, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E698 Neighboring gene STARR-positive B cell enhancer ABC_E1729 Neighboring gene eukaryotic translation initiation factor 3, subunit K Neighboring gene mitogen-activated protein kinase kinase kinase kinase 1 Neighboring gene STARR-positive B cell enhancer ABC_E10432 Neighboring gene predicted gene, 38979 Neighboring gene predicted gene, 26604 Neighboring gene STARR-seq mESC enhancer starr_18458 Neighboring gene microRNA 1963 Neighboring gene CapStarr-seq enhancer MGSCv37_chr7:29926525-29926755 Neighboring gene RAS guanyl releasing protein 4 Neighboring gene STARR-positive B cell enhancer ABC_E9287 Neighboring gene STARR-positive B cell enhancer ABC_E8159 Neighboring gene family with sequence similarity 98, member C Neighboring gene sprouty-related EVH1 domain containing 3

    Genomic regions, transcripts, and products

    Expression

    • 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

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables calcium channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables calcium-induced calcium release activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables calmodulin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protease binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ryanodine-sensitive calcium-release channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables ryanodine-sensitive calcium-release channel activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ryanodine-sensitive calcium-release channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables ryanodine-sensitive calcium-release channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables voltage-gated calcium channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to ATP ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to caffeine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cellular response to caffeine ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cellular response to caffeine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in cellular response to calcium ion ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in intracellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within muscle contraction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in muscle contraction IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ossification involved in bone maturation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in outflow tract morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein homotetramerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cytosolic calcium ion concentration ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within regulation of muscle contraction TAS
    Traceable Author Statement
    more info
    PubMed 
    involved_in regulation of response to osmotic stress ISO
    Inferred from Sequence Orthology
    more info
     
    acts_upstream_of_or_within release of sequestered calcium ion into cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in release of sequestered calcium ion into cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to caffeine ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to hypoxia ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in sarcoplasmic reticulum calcium ion transport ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in skeletal muscle fiber development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skin development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in striated muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in I band ISO
    Inferred from Sequence Orthology
    more info
     
    located_in T-tubule IDA
    Inferred from Direct Assay
    more info
    PubMed 
    is_active_in Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of calcium channel complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cell cortex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasmic side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in extrinsic component of cytoplasmic side of plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of junctional membrane complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in organelle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of ryanodine receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    is_active_in sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sarcolemma ISO
    Inferred from Sequence Orthology
    more info
     
    located_in sarcomere ISO
    Inferred from Sequence Orthology
    more info
     
    located_in sarcoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in sarcoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in sarcoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcoplasmic reticulum membrane ISO
    Inferred from Sequence Orthology
    more info
     
    is_active_in smooth endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in smooth endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in terminal cisterna ISO
    Inferred from Sequence Orthology
    more info
     
    located_in terminal cisterna ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in vesicle ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    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

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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, Q60834, Q61779, Q61780, Q62173, Q62196, Q62235, Q78EJ6, Q7TNG1, Q80UQ5, Q80X16, Q99JF9
      UniProtKB/TrEMBL
      A0A1L1SQG7
      Related
      ENSMUSP00000137123.2, ENSMUST00000179893.9
      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: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: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      28702765..28824599 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_036152819.1XP_036008712.1  ryanodine receptor 1 isoform X7

      UniProtKB/TrEMBL
      A0A1L1SQG7
      Conserved Domains (10) summary
      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)
      cd12879
      Location:14201568
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:47514935
      Ion_trans; Ion transport protein
      pfam01365
      Location:445638
      RYDR_ITPR; RIH domain
      pfam02026
      Location:852942
      RyR; RyR domain
      pfam02815
      Location:213391
      MIR; MIR domain
      pfam06459
      Location:43694657
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38693985
      RIH_assoc; RyR and IP3R Homology associated
      cl19745
      Location:12211
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    2. XM_036152817.1XP_036008710.1  ryanodine receptor 1 isoform X4

      UniProtKB/TrEMBL
      A0A1L1SQG7
      Conserved Domains (10) summary
      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)
      cd12879
      Location:14201568
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:47704954
      Ion_trans; Ion transport protein
      pfam01365
      Location:445638
      RYDR_ITPR; RIH domain
      pfam02026
      Location:852942
      RyR; RyR domain
      pfam02815
      Location:213391
      MIR; MIR domain
      pfam06459
      Location:43884676
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38693985
      RIH_assoc; RyR and IP3R Homology associated
      cl19745
      Location:12211
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    3. XM_006539689.4XP_006539752.1  ryanodine receptor 1 isoform X5

      UniProtKB/TrEMBL
      A0A1L1SQG7
      Conserved Domains (11) summary
      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)
      cd12879
      Location:14201568
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:47574941
      Ion_trans; Ion transport protein
      pfam01365
      Location:443638
      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
      cl19745
      Location:12205
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    4. XM_036152815.1XP_036008708.1  ryanodine receptor 1 isoform X2

      UniProtKB/TrEMBL
      A0A1L1SQG7
      Conserved Domains (10) summary
      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)
      cd12879
      Location:14201568
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:47764960
      Ion_trans; Ion transport protein
      pfam01365
      Location:445638
      RYDR_ITPR; RIH domain
      pfam02026
      Location:852942
      RyR; RyR domain
      pfam02815
      Location:213391
      MIR; MIR domain
      pfam06459
      Location:43944682
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38753991
      RIH_assoc; RyR and IP3R Homology associated
      cl19745
      Location:12211
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    5. XM_036152818.1XP_036008711.1  ryanodine receptor 1 isoform X6

      UniProtKB/TrEMBL
      A0A1L1SQG7
      Conserved Domains (10) summary
      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)
      cd12879
      Location:14201568
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:47564940
      Ion_trans; Ion transport protein
      pfam01365
      Location:445638
      RYDR_ITPR; RIH domain
      pfam02026
      Location:852942
      RyR; RyR domain
      pfam02815
      Location:213391
      MIR; MIR domain
      pfam06459
      Location:43744662
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38743990
      RIH_assoc; RyR and IP3R Homology associated
      cl19745
      Location:12211
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    6. XM_036152816.1XP_036008709.1  ryanodine receptor 1 isoform X3

      UniProtKB/TrEMBL
      A0A1L1SQG7
      Conserved Domains (10) summary
      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)
      cd12879
      Location:14201568
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:47754959
      Ion_trans; Ion transport protein
      pfam01365
      Location:445638
      RYDR_ITPR; RIH domain
      pfam02026
      Location:852942
      RyR; RyR domain
      pfam02815
      Location:213391
      MIR; MIR domain
      pfam06459
      Location:43934681
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38743990
      RIH_assoc; RyR and IP3R Homology associated
      cl19745
      Location:12211
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    7. XM_036152814.1XP_036008707.1  ryanodine receptor 1 isoform X1

      UniProtKB/TrEMBL
      A0A1L1SQG7
      Related
      ENSMUSP00000149042.2, ENSMUST00000214374.2
      Conserved Domains (10) summary
      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)
      cd12879
      Location:14201568
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:47814965
      Ion_trans; Ion transport protein
      pfam01365
      Location:445638
      RYDR_ITPR; RIH domain
      pfam02026
      Location:852942
      RyR; RyR domain
      pfam02815
      Location:213391
      MIR; MIR domain
      pfam06459
      Location:43994687
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38803996
      RIH_assoc; RyR and IP3R Homology associated
      cl19745
      Location:12211
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor