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FLASH GENE
Symbol RYR1 contributors: mct - updated : 24-04-2013
HGNC name ryanodine receptor 1 (skeletal)
HGNC id 10483
Corresponding disease
CCO central core disease of muscle
MHS1 malignant hyperthermia susceptibility, 1
MMDO multiminicore disease with external ophthalmoplegia
Location 19q13.2      Physical location : 38.924.339 - 39.078.203
Synonym name
  • sarcoplasmic reticulum calcium release channel
  • skeletal muscle ryanodine receptor
  • type 1-like ryanodine receptor
  • sarcoplasmic reticulum calcium release channel
  • Synonym symbol(s) HRR, RYR, MHS, RYDR, SKRR
    DNA
    TYPE functioning gene
    STRUCTURE 153.87 kb     106 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter (TATA box)
    Binding site   transcription factor
    text structure five TATA boxes, several transcription activator sites
    MAPPING cloned Y linked Y status confirmed
    Map cen - D19S49 - D19S75 - D19S191 - RYR1 ,D19S378 - D19S18 /D19S190 - D19S47 - qter
    Text see CCO
    Physical map
    DPF1 19q13.13 D4, zinc and double PHD fingers family 1 PPP1R14A 19q13.13-q13.2 protein phosphatase 1, regulatory (inhibitor) subunit 14A SPINT2 19q13.1 serine protease inhibitor, Kunitz type, 2 IMUP 19q13.13 serine protease inhibitor, Kunitz type, 2 LOC90522 19q13.13 similar to putative transmembrane protein; homolog of yeast Golgi membrane protein Yif1p (Yip1p-interacting factor) KCNK6 19q13.1 potassium channel, subfamily K, member 6 DKFZP434A1022 PSMD8 19q13.13 proteasome (prosome, macropain) 26S subunit, non-ATPase, 8 GGN 19q13.13 gametogenetin LOC388538 19 similar to SPRED-3 LOC147965 19q13.2 hypothetical protein LOC147965 RASGRP4 19q13.1 RAS guanyl releasing protein 4 RYR1 19q13.1 ryanodine receptor 1 (skeletal) MAP4K1 19q13.2 mitogen-activated protein kinase kinase kinase kinase 1 eIF3k 19q13.2 mitogen-activated protein kinase kinase kinase kinase 1 ACTN4 19q13 actinin, alpha 4 CAPN12 19q13.2 calpain 12 LGALS7 19q13.2 lectin, galactoside-binding, soluble, 7 (galectin 7) LGALS4 19q13.2 lectin, galactoside-binding, soluble, 4 (galectin 4) ECH1 19q13.1 enoyl Coenzyme A hydratase 1, peroxisomal HNRPL 19q13.2 heterogeneous nuclear ribonucleoprotein L
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    106 - 15391 565 5038 - 2007 17707769
    isoform 1
    105 - 15376 564 5033 - 2007 17707769
  • lacking an alternate in-frame exon, compared to variant 1
  • isoform 2 is shorter than isoform 1
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestivepharynx   highly
    Nervousbrain    
    Respiratoryrespiratory tractlarynx  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumskeletal highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunedendritic cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    IMPRINTING maternally
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal domain D3 involved in calcium dependent regulation of the calcium release channel
  • N-terminal and central domain elements are closely apposed near the FKBP binding site
  • five MIR and RIH domain
  • three SPRY domain, and ASI/basic and SPRY2 domains interact in an F loop regulatory module
  • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to murine Ryr1 (96.00pc)
    Homologene
    FAMILY
  • ryanodine receptor family
  • CATEGORY motor/contractile , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • involved in contraction of skeletal muscle triggered by release of calcium ions from sarcoplasmic reticulum following depolarization of transverse tubules
  • with SEPN1, are both required for normal muscle development and differentiation and for some calcium mobilization events in the embryo
  • with SERCA2B (ATP2A2 variant B) is involved in vasodilatation in pulmonary arterial smooth muscle
  • leaky RYR1 contributes to age-related loss of muscle function
  • large, homotetrameric sarcoplasmic reticulum membrane protein that is essential for Ca(2+) cycling in both skeletal and cardiac muscle
  • stabilization of RYR1 might be effective not only in neuronal death but also in neuronal dysfunction of Huntington disease
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    text cellular calcium ion homeostasis
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding SEPN1 (RyR channel is a “redox sensor” regulated by a number of associated proteins including SEPN1)
  • interacting with TRPC3 (TRPC3 and RYR1 are functionally engaged via linker proteins in skeletal muscle)
  • CLIC2 can interact with RYR1 and modulate its channel activity
  • CHERP is an RYR1 interacting protein that may be involved in the regulation of excitation-contraction coupling
  • S100A1 and calmodulin bind to an overlapping domain on the RYR1 to tune the Ca2+ release process, and thereby regulate skeletal muscle function
  • CAV3 forms a disc-shaped nonamer that binds the Ca(2+)-release channel, RYR1
  • FKBP1A promotes the RYR1 closed state, thereby inhibiting Ca2+ leakage in resting muscle
  • cell & other
    REGULATION
    Other triggered by the dehydropyridine receptor(s)
    ASSOCIATED DISORDERS
    corresponding disease(s) CCO , MHS1 , MMDO
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    altered RYR1 function may contribute to the neurodegeneration in Huntington disease
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neuromuscular  
    RyR activity may not be irreversibly damaged in patients with SEPN1-associated disease and might provide a target for therapeutic intervention
    neurology  
    altered RYR function is involved in neuronal cell death, and its stabilization might be beneficial for treatment of Huntington disease (dantrolene or other similar RYR inhibitors may be beneficial for HD patients)
    ANIMAL & CELL MODELS