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FLASH GENE
Symbol ITPR3 contributors: mct - updated : 04-02-2017
HGNC name inositol 1,4,5-triphosphate receptor, type 3
HGNC id 6182
PROTEIN
PHYSICAL PROPERTIES Hydrophobic
STRUCTURE
motifs/domains
  • a N terminal cytoplasmic ligand binding domain linked by a modulatory domain to a channel forming hydrophobic domain made of six membrane-spanning segments near the C terminus (calcium channel); N-terminal AAs 1-610 are critical for the association with SSFA2 and SSFA2-ITPR3 complex resides in a specialized ER but not a typical reticular ER
  • N-terminal portion 1-604 containing binding sites for ANK2
  • a MIR domain
  • a RIH domain
    • mono polymer homomer , tetramer
    HOMOLOGY
    interspecies homolog to murine Itpr3
    Homologene
    FAMILY INSP3 receptor family
    CATEGORY receptor membrane , transport channel
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,nucleolus
    text
  • highest concentration adjacent to apical brush border, coexpressed with RYR3
  • present in the paranodal regions of the nodes of Ranvier
    • basic FUNCTION
  • inositol 1,4,5-triphosphate receptor,involved in Ca++ mobilization from the endoplastic reticulum in intestinal epithelium and platelets movements
  • mediating monophasic Ca++ transient
  • functioning as an anti-Ca(2+)-oscillatory unit without contributing to peak amplitude of Ca(2+) signals, irrespective of its relative expression level
  • plays a crucial role in the regulation of apoptosis signaling in T lymphocytes
  • plays a critical role in the development of autoimmune diseases such as systemic lupus erythematosus, rheumatoid arthritis, and Graves disease
  • ITPR1 and ITPR3 may play a redundant role in the development of the second heart field (SHF)
  • plays an important role in the regulation of the hair cycle
  • essential for tear secretion in both parasympathetic and sympathetic pathways
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling signal transduction
  • hair shedding is actively controlled by the ITPR3/NFATC1-dependent signaling pathway, possibly through the regulation of cytokeratin filaments in keratinocytes
    • a component
  • constituent of heterotetrameric channel with ITPR1 and ITPR2
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • ITPR1, ITPR3
  • CAV1 interacts with TRPC1 and ITPR3 to regulate Ca2+ store release-induced Ca2+ entry in endothelial cells
  • SSFA2 is associated with inositol 1,4,5-trisphosphate receptor (ITPR3) and is critical for the proper subcellular localization of ITPR3 in the liver and the pancreas
  • plays a critical role in induction of apoptosis by preferentially transmitting Ca2+ signals into mitochondria
  • BAP1 binds, deubiquitylates, and stabilizes ITPR3, modulating calcium (Ca2+) release from the endoplasmic reticulum into the cytosol and mitochondria, promoting apoptosis
    • cell & other
    REGULATION
    Other poorly sensitive to IP3 and CA++
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
  • to systemic lupus erythematosus (SLE)
  • to developing coronary artery aneurysm (CAA)in children with Kawasaki disease
    • Variant & Polymorphism SNP
  • SNPs related to an increased risk for SLE
  • rs2229634 SNP in the ITPR3 gene is associated with the risk of CAA formation in Taiwanese Kawasaki disease patients
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Itpr3(-/-) mice had prominent alopecia, which was characterized by repeated hair loss and regrowth