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    RYR1 ryanodine receptor 1 [ Homo sapiens (human) ]

    Gene ID: 6261, updated on 8-Oct-2017
    Official Symbol
    RYR1provided by HGNC
    Official Full Name
    ryanodine receptor 1provided by HGNC
    Primary source
    HGNC:HGNC:10483
    See related
    Ensembl:ENSG00000196218 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
    Location:
    19q13.2
    Exon count:
    106
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 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 LOC107985290 Neighboring gene uncharacterized LOC105372397 Neighboring gene mitogen-activated protein kinase kinase kinase kinase 1 Neighboring gene eukaryotic translation initiation factor 3 subunit K

    • 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 Jun 15 11:32:44 2016

    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

    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

    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

    • Apelin signaling pathway, organism-specific biosystem (from KEGG)
      Apelin signaling pathway, organism-specific biosystemApelin is an endogenous peptide capable of binding the apelin receptor (APJ), which was originally described as an orphan G-protein-coupled receptor. Apelin and APJ are widely expressed in various ti...
    • 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...
    • Cardiac conduction, organism-specific biosystem (from REACTOME)
      Cardiac conduction, organism-specific biosystemThe normal sequence of contraction of atria and ventricles of the heart require activation of groups of cardiac cells. The mechanism must elicit rapid changes in heart rate and respond to changes in ...
    • Cell-type Dependent Selectivity of CCK2R Signaling, organism-specific biosystem (from WikiPathways)
      Cell-type Dependent Selectivity of CCK2R Signaling, organism-specific biosystemThis pathway is based on Figure 7 of "Cell-Type Specific CCK2 Receptor Signaling Underlies the Cholecystokinin-Mediated Selective Excitation of Hippocampal Parvalbumin-Positive Fast-Spiking Basket Ce...
    • 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...
    • Ion homeostasis, organism-specific biosystem (from REACTOME)
      Ion homeostasis, organism-specific biosystemIon channel homeostasis in relation to cardiac conduction is described in this section (Couette et al. 2006, Bartos et al. 2015).
    • 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...
    • Muscle contraction, organism-specific biosystem (from REACTOME)
      Muscle contraction, organism-specific biosystemIn this module, the processes by which calcium binding triggers actin - myosin interactions and force generation in smooth and striated muscle tissues are annotated.
    • 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
    ATP binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium ion binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    calcium ion binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    calcium-induced calcium release activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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 IMP
    Inferred from Mutant Phenotype
    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 transport ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to caffeine IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cellular response to caffeine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cellular response to calcium ion 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
     
    protein homotetramerization ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    regulation of cardiac conduction TAS
    Traceable Author Statement
    more info
     
    regulation of cytosolic calcium ion concentration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    release of sequestered calcium ion into cytosol IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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
     
    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 
    extracellular exosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    integral component of organelle membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    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 
    ryanodine receptor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sarcoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    sarcoplasmic reticulum membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    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
    ryanodine receptor 1 (skeletal)
    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
      ENSP00000352608.2, OTTHUMP00000269480, ENST00000359596.7, 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)
      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_001042723.1NP_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
      ENSP00000347667.3, OTTHUMP00000269192, ENST00000355481.8, 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)
      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: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000019.10 Reference GRCh38.p7 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011527205.2XP_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_006723317.2XP_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_006723319.2XP_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

    RNA

    1. XR_001753735.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018930.2 Alternate CHM1_1.1

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