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    RYR1 ryanodine receptor 1 [ Homo sapiens (human) ]

    Gene ID: 6261, updated on 25-Jan-2024

    Summary

    Official Symbol
    RYR1provided by HGNC
    Official Full Name
    ryanodine receptor 1provided by HGNC
    Primary source
    HGNC:HGNC:10483
    See related
    Ensembl:ENSG00000196218 MIM:180901; AllianceGenome:HGNC:10483
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CCO; KDS; MHS; RYR; MHS1; RYDR; SKRR; RYR-1; CMYP1A; CMYP1B; PPP1R137
    Summary
    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]
    Expression
    Broad expression in prostate (RPKM 3.0), esophagus (RPKM 2.5) and 15 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:
    19q13.2
    Exon count:
    106
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (38433691..38587564)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (41235876..41391545)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (38924331..39078204)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 13764 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:38890799-38890957 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10572 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10573 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 ATAC-STARR-seq lymphoblastoid silent region 10574 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38917687-38918201 Neighboring gene MPRA-validated peak3471 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10575 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38925085-38925660 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:38932363-38932538 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38932982-38933942 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38943427-38943954 Neighboring gene MPRA-validated peak3472 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38953733-38954234 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:38954745-38955341 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:38969337-38969680 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:38986475-38987366 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr19:38995830-38997029 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10576 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14572 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14573 Neighboring gene uncharacterized LOC124904710 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14574 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14575 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14576 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10577 Neighboring gene MPRA-validated peak3473 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39070191-39070692 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39087374-39087874 Neighboring gene MAP4K1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39098110-39098610 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39098611-39099111 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39103339-39103839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14579 Neighboring gene NANOG hESC enhancer GRCh37_chr19:39112860-39113720 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:39114367-39114868 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:39121815-39122606 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:39122654-39123853 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39125282-39126240 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:39127485-39128424 Neighboring gene eukaryotic translation initiation factor 3 subunit K

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in RYR1 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Central core myopathy
    MedGen: C0751951 OMIM: 117000 GeneReviews: Not available
    Compare labs
    Congenital multicore myopathy with external ophthalmoplegia
    MedGen: C1850674 OMIM: 255320 GeneReviews: Not available
    Compare labs
    Congenital myopathy with fiber type disproportion
    MedGen: C0546264 GeneReviews: Not available
    Compare labs
    King Denborough syndrome
    MedGen: C1840365 OMIM: 619542 GeneReviews: Not available
    Compare labs
    Malignant hyperthermia, susceptibility to, 1 Compare labs
    Statin-induced myopathy
    MedGen: CN181199 GeneReviews: Not available
    Compare labs

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2015-11-12)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2015-11-12)

    ClinGen Genome Curation Page

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat activates RyRs via a calcium- and calpain-mediated mechanism that upregulates DAT trafficking to the PM PubMed
    tat Neurons exposed to HIV-1 Tat induces calcium loss from the endoplasmic reticulum via ryanodine receptor (RyR) and increases the phosphorylated levels of PERK, eIF2a, and XBP1 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding ISS
    Inferred from Sequence or Structural Similarity
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables calcium-release channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables calmodulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables ryanodine-sensitive calcium-release channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables ryanodine-sensitive calcium-release channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    enables voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to caffeine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in ossification involved in bone maturation ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in release of sequestered calcium ion into cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in release of sequestered calcium ion into cytosol ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to caffeine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in skeletal muscle fiber development ISS
    Inferred from Sequence or Structural Similarity
    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 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 IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular exosome HDA PubMed 
    located_in junctional sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in organelle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in plasma membrane 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 sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    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 ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in smooth endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in terminal cisterna ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 

    General protein information

    Preferred Names
    ryanodine receptor 1
    Names
    central core disease of muscle
    protein phosphatase 1, regulatory subunit 137
    ryanodine receptor 1 (skeletal)
    sarcoplasmic reticulum calcium release channel
    skeletal muscle calcium release channel
    skeletal muscle ryanodine receptor
    type 1-like 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.

    Genomic

    1. NG_008866.1 RefSeqGene

      Range
      5001..158865
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_766

    mRNA and Protein(s)

    1. NM_000540.3NP_000531.2  ryanodine receptor 1 isoform 1

      See identical proteins and their annotated locations for NP_000531.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AC005933, AC011469, AC067969
      Consensus CDS
      CCDS33011.1
      UniProtKB/Swiss-Prot
      P21817, Q16314, Q16368, Q9NPK1, Q9P1U4
      Related
      ENSP00000352608.2, ENST00000359596.8
      Conserved Domains (12) summary
      smart00472
      Location:210263
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:642793
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10721204
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47654949
      Ion_trans; Ion transport protein
      pfam01365
      Location:443631
      RYDR_ITPR; RIH domain
      pfam02026
      Location:850940
      RyR; RyR domain
      pfam02815
      Location:211389
      MIR; MIR domain
      pfam06459
      Location:43834671
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38793992
      RIH_assoc; RyR and IP3R Homology associated
      pfam13833
      Location:40834133
      EF-hand_8; EF-hand domain pair
      cd12879
      Location:14181566
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl19745
      Location:8203
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    2. NM_001042723.2NP_001036188.1  ryanodine receptor 1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon, compared to variant 1, resulting in a shorter protein (isoform 2).
      Source sequence(s)
      AC005933, AC011469, BI000785, BP231595, J05200
      Consensus CDS
      CCDS42563.1
      UniProtKB/Swiss-Prot
      P21817
      Related
      ENSP00000347667.3, ENST00000355481.8
      Conserved Domains (12) summary
      smart00472
      Location:210263
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:642793
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10721204
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47604944
      Ion_trans; Ion transport protein
      pfam01365
      Location:443631
      RYDR_ITPR; RIH domain
      pfam02026
      Location:850940
      RyR; RyR domain
      pfam02815
      Location:211389
      MIR; MIR domain
      pfam06459
      Location:43784666
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38743987
      RIH_assoc; RyR and IP3R Homology associated
      pfam13833
      Location:40784128
      EF-hand_8; EF-hand domain pair
      cd12879
      Location:14181566
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl19745
      Location:8203
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      38433691..38587564
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527205.3XP_011525507.1  ryanodine receptor 1 isoform X3

      Conserved Domains (12) summary
      smart00472
      Location:210263
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:642793
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10721204
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47364920
      Ion_trans; Ion transport protein
      pfam01365
      Location:443631
      RYDR_ITPR; RIH domain
      pfam02026
      Location:850940
      RyR; RyR domain
      pfam02815
      Location:211389
      MIR; MIR domain
      pfam06459
      Location:43834642
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38793992
      RIH_assoc; RyR and IP3R Homology associated
      pfam13833
      Location:40834133
      EF-hand_8; EF-hand domain pair
      cd12879
      Location:14181566
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl19745
      Location:8203
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    2. XM_006723317.3XP_006723380.1  ryanodine receptor 1 isoform X1

      Conserved Domains (12) summary
      smart00472
      Location:210263
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:642793
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10721204
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47594943
      Ion_trans; Ion transport protein
      pfam01365
      Location:443631
      RYDR_ITPR; RIH domain
      pfam02026
      Location:850940
      RyR; RyR domain
      pfam02815
      Location:211389
      MIR; MIR domain
      pfam06459
      Location:43774665
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38733986
      RIH_assoc; RyR and IP3R Homology associated
      pfam13833
      Location:40774127
      EF-hand_8; EF-hand domain pair
      cd12879
      Location:14181566
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl19745
      Location:8203
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    3. XM_006723319.3XP_006723382.1  ryanodine receptor 1 isoform X2

      Conserved Domains (12) summary
      smart00472
      Location:210263
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:642793
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10721204
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      pfam00520
      Location:47544938
      Ion_trans; Ion transport protein
      pfam01365
      Location:443631
      RYDR_ITPR; RIH domain
      pfam02026
      Location:850940
      RyR; RyR domain
      pfam02815
      Location:211389
      MIR; MIR domain
      pfam06459
      Location:43724660
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38683981
      RIH_assoc; RyR and IP3R Homology associated
      pfam13833
      Location:40724122
      EF-hand_8; EF-hand domain pair
      cd12879
      Location:14181566
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      cl19745
      Location:8203
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
    4. XM_047439202.1XP_047295158.1  ryanodine receptor 1 isoform X4

      UniProtKB/TrEMBL
      M0R127
      Related
      ENSP00000471601.2, ENST00000599547.6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      41235876..41391545
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054321708.1XP_054177683.1  ryanodine receptor 1 isoform X3

    2. XM_054321706.1XP_054177681.1  ryanodine receptor 1 isoform X1

    3. XM_054321707.1XP_054177682.1  ryanodine receptor 1 isoform X2

    4. XM_054321709.1XP_054177684.1  ryanodine receptor 1 isoform X4

      UniProtKB/TrEMBL
      M0R127