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FLASH GENE
Symbol PITPNM3 contributors: mct - updated : 27-12-2016
HGNC name PITPNM family member 3
HGNC id 21043
Corresponding disease
CORD5 retinal cone-rod dystrophy 5
Location 17p13.1      Physical location : 6.354.583 - 6.459.877
Synonym name
  • PYK2 N-terminal domain-interacting receptor 1
  • retinal degeneration B alpha 3 (Drosophila)
    • Synonym symbol(s) NIR1, RDGBA3, MGC157741, ACKR6, CORD5
    DNA
    TYPE anonymous DNA segment
    STRUCTURE 105.29 kb     20 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    19 - 7053 - 938 - 2013 24001613
    20 - 7161 - 974 - 2013 24001613
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunespleen    
    Nervousbrain    
    Reproductivefemale systemovary   
    Visualeyeretina   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • six putative transmembrane domains
  • a region homologous to phosphatidylinositol (PI) transfer protein
  • an acidic domain
  • C-terminus necessary for interaction with PYK2
    • HOMOLOGY
    interspecies homolog to drosophila Rdgb
    Homologene
    FAMILY phosphatidyl-inositol transfer protein family
    CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    basic FUNCTION
  • playing a role in the control of calcium and phosphoinositide metabolism downstream of G-protein-coupled receptors
  • involved in several more complex pathways affecting photoreceptor survival and light induced response
  • PITPNM1, PITPNM2, PITPNM3, PITPNA, PITPNB, PITPNC1 are regulators of phosphoinositide pathways by recruitment to membranes through specific protein interactions to promote molecular exchange between closely opposed membranes i.e., at membrane contact sites
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    calcium Ca2+
    protein
  • PITPNM3 as a functional receptor for CCL18 that mediates CCL18 effect and activates intracellular calcium signaling
  • upon the binding of CCL18 to PITPNM3, PTK2B translocates from the cytoplasm to the plasma membrane to form a stable complex with PITPNM3, subsequently activating SRC kinase
  • CCL18 enhances hepatocellular carcinoma cell migration, invasion, and EMT through the expression of PITPNM3 and the activation of the NFKB1 signaling pathway
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CORD5
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Pitpnm1 null mice showed no hearing defects, possibly due to redundancy with the paralogous genes Pitpnm2 and Pitpnm3