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    RYR1 ryanodine receptor 1 [ Sus scrofa (pig) ]

    Gene ID: 396718, updated on 5-Mar-2024

    Summary

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    Official Symbol
    RYR1provided by VGNC
    Official Full Name
    ryanodine receptor 1provided by VGNC
    Primary source
    VGNC:VGNC:111766
    See related
    Ensembl:ENSSSCG00000058790
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Sus scrofa
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Artiodactyla; Suina; Suidae; Sus
    Also known as
    CRC; RYR
    Expression
    Biased expression in longissimus dorsi muscle (RPKM 232.4), psoas major muscle (RPKM 182.3) and 1 other tissue See more
    Orthologs
    human mouse all
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    Genomic context

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    See RYR1 in Genome Data Viewer
    Location:
    chromosome: 6
    Exon count:
    105
    Annotation release Status Assembly Chr Location
    106 current Sscrofa11.1 (GCF_000003025.6) 6 NC_010448.4 (47339759..47458457)
    105 previous assembly Sscrofa10.2 (GCF_000003025.5) 6 NC_010448.3 (42840240..42960110)

    Chromosome 6 - NC_010448.4Genomic Context describing neighboring genes Neighboring gene sprouty related EVH1 domain containing 3 Neighboring gene family with sequence similarity 98 member C Neighboring gene RAS guanyl releasing protein 4 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 1 Neighboring gene eukaryotic translation initiation factor 3 subunit K

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Transcriptome data used for gene annotation
    • Description: Nine kinds of tissues and a mixture of multiple tissues were sequenced for genome annotation
    • BioProject: PRJNA311523
    • Publication: PMID 27646534
    • Analysis date: Thu Dec 14 17:10:49 2017

    Bibliography

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    Related articles in PubMed

    1. InsP(3)R-RyR channel crosstalk augments sarcoplasmic reticulum Ca(2+) release and arrhythmogenic activity in post-MI pig cardiomyocytes. Jin X, et al. J Mol Cell Cardiol, 2023 Jun. PMID 37003353
    2. Pathological conformations of disease mutant Ryanodine Receptors revealed by cryo-EM. Woll KA, et al. Nat Commun, 2021 Feb 5. PMID 33547325, Free PMC Article
    3. The effects of ryanodine receptor (RYR1) mutation on natural killer cell cytotoxicity, plasma cytokines and stress hormones during acute intermittent exercise in pigs. Ciepielewski ZM, et al. Res Vet Sci, 2016 Apr. PMID 27033913
    4. The effects of ryanodine receptor 1 (RYR1) mutation on plasma cytokines and catecholamines during prolonged restraint in pigs. Ciepielewski ZM, et al. Vet Immunol Immunopathol, 2013 Dec 15. PMID 24176615
    5. Subcellular heterogeneity of ryanodine receptor properties in ventricular myocytes with low T-tubule density. Biesmans L, et al. PLoS One, 2011. PMID 22022376, Free PMC Article

    See all (26) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. InsP3R-RyR channel crosstalk augments sarcoplasmic reticulum Ca[2+] release and arrhythmogenic activity in post-MI pig cardiomyocytes.
      Title: InsP(3)R-RyR channel crosstalk augments sarcoplasmic reticulum Ca(2+) release and arrhythmogenic activity in post-MI pig cardiomyocytes.
    2. Pathological conformations of disease mutant Ryanodine Receptors revealed by cryo-EM.
      Title: Pathological conformations of disease mutant Ryanodine Receptors revealed by cryo-EM.
    3. These results suggest that the heterogeneity of immunological and neuroendocrine response to exercise stress in pigs could be influenced by RYR1 gene mutation.
      Title: The effects of ryanodine receptor (RYR1) mutation on natural killer cell cytotoxicity, plasma cytokines and stress hormones during acute intermittent exercise in pigs.
    4. Interleukin 1, IL-2, IL-10, and TNF-alpha measures were positively intercorrelated in each of the three RYR1 genotype group
      Title: The effects of ryanodine receptor 1 (RYR1) mutation on plasma cytokines and catecholamines during prolonged restraint in pigs.
    5. T-tubules proximity modulates RyR cluster properties resulting in intracellular heterogeneity of diastolic spark activity.
      Title: Subcellular heterogeneity of ryanodine receptor properties in ventricular myocytes with low T-tubule density.
    6. Results support the hypothesis that Ca(2)(+) binding to CaM's C-terminal acts as the switch converting CaM from a RyR1 activator into a channel inhibitor.
      Title: Site-specific modification of calmodulin Ca²(+) affinity tunes the skeletal muscle ryanodine receptor activation profile.
    7. The RYR1 genotype had a significant effect on IGF-2 expression in pig longissimus dorsi muscle.
      Title: Interactions between genes involved in growth and muscularity in pigs: IGF-2, myostatin, ryanodine receptor 1, and melanocortin-4 receptor.
    8. Donor-acceptor distances derived from our FRET measurements provide insights into calmodulin (CaM)'s location and orientation within the RyR1 3D architecture and the conformational switching that underlies CaM regulation of the channel
      Title: FRET-based mapping of calmodulin bound to the RyR1 Ca2+ release channel.
    9. altered luminal Ca(2+) regulation of RyR1 represents a primary causal mechanism of malignant hyperthermia
      Title: Reduced threshold for luminal Ca2+ activation of RyR1 underlies a causal mechanism of porcine malignant hyperthermia.
    10. Our data suggest that non-coplanar PCBs are more potent and efficacious toward (MH)RyR1 than (Wt)RyR1, and have more profound effects on its cation regulation.
      Title: Ryanodine receptor type 1 (RyR1) possessing malignant hyperthermia mutation R615C exhibits heightened sensitivity to dysregulation by non-coplanar 2,2',3,5',6-pentachlorobiphenyl (PCB 95).
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RefSeq

    Function Evidence Code Pubs
    enables protein binding IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    enables ryanodine-sensitive calcium-release channel activity IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    involved_in intracellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Z disc IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    part_of calcium channel complex IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    located_in sarcolemma IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    located_in sarcoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 
    located_in smooth endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    ryanodine receptor 1
    Names
    CRC1, RYR1
    RYR-1
    calcium release channel (ryanodine receptor 1)
    halothane
    porcine stress syndrome
    skeletal muscle calcium release channel
    skeletal muscle ryanodine receptor
    skeletal muscle-type ryanodine receptor
    type 1 ryanodine receptor

    NCBI Reference Sequences (RefSeq)

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    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_001001534.1 → NP_001001534.1  ryanodine receptor 1

      See identical proteins and their annotated locations for NP_001001534.1

      Status: PROVISIONAL

      Source sequence(s)
      M91452
      UniProtKB/TrEMBL
      Q29104, Q29105
      Related
      ENSSSCP00000078299.1, ENSSSCT00000100883.1
      Conserved Domains (13) summary
      smart00472
      Location:211 → 264
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:643 → 794
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:1073 → 1205
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:4762 → 4946
      Ion_trans; Ion transport protein
      pfam01365
      Location:444 → 632
      RYDR_ITPR; RIH domain
      pfam02026
      Location:851 → 941
      RyR; RyR domain
      pfam02815
      Location:212 → 390
      MIR; MIR domain
      pfam03057
      Location:1307 → 1424
      DUF236; Protein of unknown function
      pfam06459
      Location:4379 → 4668
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:3875 → 3988
      RIH_assoc; RyR and IP3R Homology associated
      pfam13833
      Location:4079 → 4129
      EF-hand_8; EF-hand domain pair
      cd12879
      Location:1419 → 1567
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl19745
      Location:9 → 204
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

    RefSeqs of Annotated Genomes: Sus scrofa 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 Sscrofa11.1 Primary Assembly

    Genomic

    1. NC_010448.4 Reference Sscrofa11.1 Primary Assembly

      Range
      47339759..47458457
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P16960.2 GenPept UniProtKB/Swiss-Prot:P16960

    Gene LinkOut

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