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FLASH GENE
Symbol RYR3 contributors: SGE/npt - updated : 28-03-2018
HGNC name ryanodine receptor 3
HGNC id 10485
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a large cytoplasmic domain (the foot region) including a consensus site for ATP binding
  • five MIR domains
  • four transmembrane segments (4TM)
  • a short cytoplasmic C terminal, forming a homotetramer bound to FK506 binding proteins
  • three 3 b30.2/SPRY domains
  • an EF-Hand domain
  • conjugated GlycoP
    mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to murine Ryr3 (96.3pc)
    Homologene
    FAMILY
  • ryanodine receptor family
  • CATEGORY receptor , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • involved in special form of hippocampal synaptic plasticity (for adaptation of acquired memory flexibility to environmental changes)
  • is a very potent source of voltage-independent Ca2+ release activity
  • binding site for the 12 kDa FK506-binding protein, encompassing the critical valine proline motif, plays a crucial role in the modulation of the Ca2+ release properties RYR3 channel, including the regulation of both global Ca2+ responses and spontaneous Ca2+ sparks
  • with SERCA2A (ATP2A2 variant A) is involved in vasoconstriction in pulmonary arterial smooth muscle (Clark 2010)
  • intracellular calcium ion release channel responsible for the release of Ca2+ from intracellular stores following transduction of many different extracellular stimuli
  • communication between transverse-tubules and sarcoplamsic reticulum
  • contraction of skeletal muscle is triggered by release of calcium ions from sarcoplasmic reticulum following depolarization of T-tubules
  • RYR1, RYR2, RYR3 strongly regulate Ca2+ influx in human T cells
  • because SOCE regulates a variety of Ca2+-dependent T cell responses, RYR1, RYR2, RYR3 are in a position to control vital T cell functions
  • RYR1, RYR2, RYR3 are important regulators of Ca2+ signaling and Ca2+-dependent functions in human immune cells, which could be potentially used as a tool for modulating immune responses
  • intracellular calcium channel responsible for rapid release of Ca(2+) from the sarcoplasmic/endoplasmic reticulum (SR/ER) to the cytoplasm, which is essential for the excitation-contraction (E-C) coupling of cardiac and skeletal muscles
  • functions to release stored endoplasmic reticulum calcium ions (Ca2+) to increase intracellular Ca2+ concentration
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    calcium release channel
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • coexpressed with ITPR3 in neurons
  • interaction between FKBP1A and RYR1, RYR3 and ITPR1
  • RYR1, RYR2, RYR3 regulate SOCE by controlling Ca2+ store refilling
  • TPP2 can regulate sperm maturation by modulating intracellular Ca(2+) stores via RYR3
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NEM12
    Susceptibility
  • to severe epileptic encephalopathies
  • to hypertension, diabetes and Alzheimer disease
  • Variant & Polymorphism SNP , other
  • causative role of RYR3 mutations in severe epileptic encephalopathies
  • three SNPs (rs2033610, rs2596164, and rs2278317) are significantly associated with risk for hypertension, diabetes and AD
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS