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    RYR1 ryanodine receptor 1 (skeletal) [ Homo sapiens (human) ]

    Gene ID: 6261, updated on 24-Aug-2015
    Official Symbol
    RYR1provided by HGNC
    Official Full Name
    ryanodine receptor 1 (skeletal)provided by HGNC
    Primary source
    HGNC:HGNC:10483
    See related
    Ensembl:ENSG00000196218; HPRD:01618; MIM:180901; Vega:OTTHUMG00000182403
    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; MHS; RYR; MHS1; RYDR; SKRR; RYR-1; 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]
    Orthologs
    See RYR1 in Epigenomics, MapViewer
    Location:
    19q13.2
    Exon count:
    106
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 19 NC_000019.10 (38433700..38587564)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (38924340..39078204)

    Chromosome 19 - NC_000019.10Genomic 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 uncharacterized LOC105372397 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 1 Neighboring gene eukaryotic translation initiation factor 3, subunit K

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    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

    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

    • 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...
    • 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 biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
    • 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...
    • 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 biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
    • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
      Transmembrane transport of small molecules, organism-specific biosystem
      Transmembrane transport of small molecules
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium-release channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    calmodulin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    protease binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    ryanodine-sensitive calcium-release channel activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ryanodine-sensitive calcium-release channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ryanodine-sensitive calcium-release channel activity TAS
    Traceable Author Statement
    more info
    PubMed 
    voltage-gated calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    calcium ion transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
     
    calcium ion transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to caffeine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosolic calcium ion homeostasis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    muscle contraction ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    ossification involved in bone maturation ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    outflow tract morphogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    release of sequestered calcium ion into cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    release of sequestered calcium ion into cytosol by sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to caffeine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    response to hypoxia IDA
    Inferred from Direct Assay
    more info
    PubMed 
    skeletal muscle fiber development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    skin development ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    transmembrane transport TAS
    Traceable Author Statement
    more info
     
    Component Evidence Code Pubs
    I band IDA
    Inferred from Direct Assay
    more info
    PubMed 
    T-tubule IEA
    Inferred from Electronic Annotation
    more info
     
    cell cortex IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    junctional membrane complex IEA
    Inferred from Electronic Annotation
    more info
     
    junctional sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sarcoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sarcoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    smooth endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    terminal cisterna ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    Preferred Names
    ryanodine receptor 1
    Names
    central core disease of muscle
    protein phosphatase 1, regulatory subunit 137
    sarcoplasmic reticulum calcium release channel
    skeletal muscle calcium release channel
    skeletal muscle ryanodine receptor
    type 1-like 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.

    Genomic

    1. NG_008866.1 RefSeqGene

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

    mRNA and Protein(s)

    1. NM_000540.2NP_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
      Related
      ENSP00000352608, OTTHUMP00000269480, ENST00000359596, OTTHUMT00000462137
      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)
      cd12879
      Location:14181566
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:47834937
      Ion_trans; Ion transport protein
      pfam01365
      Location:440643
      RYDR_ITPR; RIH domain
      pfam02026
      Location:27342826
      RyR; RyR domain
      pfam02815
      Location:211389
      MIR; MIR domain
      pfam06459
      Location:43824671
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38703992
      RIH_assoc; RyR and IP3R Homology associated
      pfam08709
      Location:8206
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
      pfam13833
      Location:40834133
      EF-hand_8; EF-hand domain pair
    2. NM_001042723.1NP_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, OTTHUMP00000269192, ENST00000355481, OTTHUMT00000461017
      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)
      cd12879
      Location:14181566
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:47784932
      Ion_trans; Ion transport protein
      pfam01365
      Location:440643
      RYDR_ITPR; RIH domain
      pfam02026
      Location:27342826
      RyR; RyR domain
      pfam02815
      Location:211389
      MIR; MIR domain
      pfam06459
      Location:43774666
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38653987
      RIH_assoc; RyR and IP3R Homology associated
      pfam08709
      Location:8206
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
      pfam13833
      Location:40784128
      EF-hand_8; EF-hand domain pair

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p2 Primary Assembly

      Range
      38433700..38587564
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011527205.1XP_011525507.1  

      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)
      cd12879
      Location:14181566
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:47544908
      Ion_trans; Ion transport protein
      pfam01365
      Location:440643
      RYDR_ITPR; RIH domain
      pfam02026
      Location:27342826
      RyR; RyR domain
      pfam02815
      Location:211389
      MIR; MIR domain
      pfam06459
      Location:43824642
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38703992
      RIH_assoc; RyR and IP3R Homology associated
      pfam08709
      Location:8206
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
      pfam13833
      Location:40834133
      EF-hand_8; EF-hand domain pair
    2. XM_006723317.1XP_006723380.1  

      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)
      cd12879
      Location:14181566
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:47774931
      Ion_trans; Ion transport protein
      pfam01365
      Location:440643
      RYDR_ITPR; RIH domain
      pfam02026
      Location:27342826
      RyR; RyR domain
      pfam02815
      Location:211389
      MIR; MIR domain
      pfam06459
      Location:43764665
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38643986
      RIH_assoc; RyR and IP3R Homology associated
      pfam08709
      Location:8206
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
      pfam13833
      Location:40774127
      EF-hand_8; EF-hand domain pair
    3. XM_006723319.1XP_006723382.1  

      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)
      cd12879
      Location:14181566
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:47724926
      Ion_trans; Ion transport protein
      pfam01365
      Location:440643
      RYDR_ITPR; RIH domain
      pfam02026
      Location:27342826
      RyR; RyR domain
      pfam02815
      Location:211389
      MIR; MIR domain
      pfam06459
      Location:43714660
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38593981
      RIH_assoc; RyR and IP3R Homology associated
      pfam08709
      Location:8206
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
      pfam13833
      Location:40724122
      EF-hand_8; EF-hand domain pair
    4. XM_011527204.1XP_011525506.1  

      Conserved Domains (12) summary
      smart00472
      Location:210263
      MIR; Domain in ryanodine and inositol trisphosphate receptors and protein O-mannosyltransferases
      cd12877
      Location:641792
      SPRY1_RyR; SPRY domain 1 (SPRY1) of ryanodine receptor (RyR)
      cd12878
      Location:10711203
      SPRY2_RyR; SPRY domain 2 (SPRY2) of ryanodine receptor (RyR)
      cd12879
      Location:14171565
      SPRY3_RyR; SPRY domain 3 (SPRY3) of ryanodine receptor (RyR)
      pfam00520
      Location:47824936
      Ion_trans; Ion transport protein
      pfam01365
      Location:439642
      RYDR_ITPR; RIH domain
      pfam02026
      Location:27332825
      RyR; RyR domain
      pfam02815
      Location:211388
      MIR; MIR domain
      pfam06459
      Location:43814670
      RR_TM4-6; Ryanodine Receptor TM 4-6
      pfam08454
      Location:38693991
      RIH_assoc; RyR and IP3R Homology associated
      pfam08709
      Location:8206
      Ins145_P3_rec; Inositol 1,4,5-trisphosphate/ryanodine receptor
      pfam13833
      Location:40824132
      EF-hand_8; EF-hand domain pair

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

      Range
      38924701..39079134
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)