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FLASH GENE
Symbol ITPR3 contributors: mct - updated : 04-02-2015
HGNC name inositol 1,4,5-triphosphate receptor, type 3
HGNC id 6182
Location 6p21.31      Physical location : 33.589.155 - 33.664.346
Synonym symbol(s) IP3R3, IP3T, FLJ36205, IP3R
DNA
TYPE functioning gene
STRUCTURE 75.19 kb     58 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
HKE2 6p21.3 HLA class II region expressed gene KE2 RAB2L 6p21.3 RAB2, member RAS oncogene family-like TAPBP 6p21.3 TAP binding protein (tapasin) ZNF297 6p21.3 zinc finger protein 297 DAXX 6p21.3 death-associated protein 6 LOC346177 6p21.31 similar to myosin:SUBUNIT=regulatory light chain LYPLA2P1 6p21.31 lysophospholipase II pseudogene 1 KIFC1 6p21.3 kinesin family member C1 PHF1 6p21.3 PHD finger protein 1 C6orf82 6pter-p21.31 chromosome 6 open reading frame 82 MGC23166 BAK1 6p21.3 BCL2-antagonist/killer 1 ITPR3 6p21 inositol 1,4,5-triphosphate receptor, type 3 C6orf125 6p21.31 chromosome 6 open reading frame 125 IHPK3 6p2131-p21.2 inositol hexaphosphate kinase 3 LEMD2 6p21.31 LEM domain containing 2 MLN 6p21.3 motilin
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
58 - 9047 - 2671 - Martinez-Gomez (2007)
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver     Homo sapiens
 stomach     Homo sapiens
Endocrinepancreas     Homo sapiens
Respiratoryrespiratory tractlarynx  highly
Skin/Tegumentskin appendageshair    Homo sapiens
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticplatelet
Digestivechief Homo sapiens
Nervousneuron
Skin/Tegumenthair follicle cell Homo sapiens
cell lineage hematopoietic cells
cell lines lymphoma cell lines
fluid/secretion
at STAGE
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
  • 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