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    Ryr1 ryanodine receptor 1 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 114207, updated on 10-Oct-2024

    Summary

    Official Symbol
    Ryr1provided by RGD
    Official Full Name
    ryanodine receptor 1provided by RGD
    Primary source
    RGD:1586637
    See related
    EnsemblRapid:ENSRNOG00000020557 AllianceGenome:RGD:1586637
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    RYR-1; Ryr1l
    Summary
    Enables ryanodine-sensitive calcium-release channel activity. Involved in release of sequestered calcium ion into cytosol by sarcoplasmic reticulum; response to estradiol; and response to purine-containing compound. Located in sarcolemma; sarcoplasmic reticulum membrane; and terminal cisterna. Is extrinsic component of cytoplasmic side of plasma membrane. Human ortholog(s) of this gene implicated in central core disease; malignant hyperthermia; and multiminicore disease. Orthologous to human RYR1 (ryanodine receptor 1). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward (RPKM 2762.9) See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See Ryr1 in Genome Data Viewer
    Location:
    1q21
    Exon count:
    106
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (93420078..93551305, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (84292578..84423824, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (87959596..88066252, complement)

    Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene MARCKS-related protein-like Neighboring gene mitogen activated protein kinase kinase kinase kinase 1 Neighboring gene eukaryotic translation initiation factor 3, subunit K Neighboring gene RAS guanyl releasing protein 4 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: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables calcium channel activity ISO
    Inferred from Sequence Orthology
    more info
     
    enables calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    enables protease binding ISO
    Inferred from Sequence Orthology
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ryanodine-sensitive calcium-release channel activity IEA
    Inferred from Electronic Annotation
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    enables voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to caffeine IEA
    Inferred from Electronic Annotation
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in muscle contraction ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in negative regulation of transforming growth factor beta receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in ossification involved in bone maturation ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in ossification involved in bone maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in outflow tract morphogenesis ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in protein homotetramerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of cytosolic calcium ion concentration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of response to osmotic stress IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in release of sequestered calcium ion into cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in release of sequestered calcium ion into cytosol IEA
    Inferred from Electronic Annotation
    more info
     
    acts_upstream_of_or_within release of sequestered calcium ion into cytosol ISO
    Inferred from Sequence Orthology
    more info
     
    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 IDA
    Inferred from Direct Assay
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in response to caloric restriction IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to electrical stimulus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to estradiol IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to hypoxia IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to hypoxia IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in response to hypoxia ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in response to muscle activity IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in sarcoplasmic reticulum calcium ion transport IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in skeletal muscle contraction IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in skeletal muscle fiber development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in skeletal muscle fiber development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in skin development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in skin development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in striated muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in I band IEA
    Inferred from Electronic Annotation
    more info
     
    located_in I band ISO
    Inferred from Sequence Orthology
    more info
     
    located_in T-tubule ISO
    Inferred from Sequence Orthology
    more info
     
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell cortex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extrinsic component of cytoplasmic side of plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of junctional membrane complex ISO
    Inferred from Sequence Orthology
    more info
     
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
     
    located_in organelle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in perinuclear region of cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane ISO
    Inferred from Sequence Orthology
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     
    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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in sarcomere IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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 IEA
    Inferred from Electronic Annotation
    more info
     
    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 ISO
    Inferred from Sequence Orthology
    more info
     
    located_in terminal cisterna IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in vesicle IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    ryanodine receptor 1
    Names
    ryanodine receptor 1 (skeletal)
    ryanodine receptor 1, skeletal muscle
    ryanodine receptor 1-like, skeletal muscle
    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_001419537.1NP_001406466.1  ryanodine receptor 1

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000001
      UniProtKB/TrEMBL
      V9GZ83
      Related
      ENSRNOP00000073446.2, ENSRNOT00000079473.3

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086019.1 Reference GRCr8

      Range
      93420078..93551305 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039100854.2XP_038956782.1  ryanodine receptor 1 isoform X3

      UniProtKB/TrEMBL
      A0A0G2K5J1
      Related
      ENSRNOP00000027893.8, ENSRNOT00000027893.8
      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_039100852.2XP_038956780.1  ryanodine receptor 1 isoform X1

      UniProtKB/TrEMBL
      A0A0G2K5J1
      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:47574941
      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:43754663
      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
    3. XM_039100853.2XP_038956781.1  ryanodine receptor 1 isoform X2

      UniProtKB/TrEMBL
      A0A0G2K5J1
      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