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FLASH GENE
Symbol PITPNM1 contributors: mct - updated : 23-12-2016
HGNC name phosphatidylinositol transfer protein, membrane-associated 1
HGNC id 9003
Location 11q13.2      Physical location : 67.259.239 - 67.272.843
Synonym name
  • Drosophila retinal degeneration B
  • PYK2 N-terminal domain-interacting receptor 2
  • Synonym symbol(s) DRES9, RDGB, NIR2, PITPNM, MPT-1, RdgBalpha1, Rd9, RDGB1, RDGBA, RDGBA1
    DNA
    TYPE functioning gene
    STRUCTURE 13.63 kb     24 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Map cen - D11S913 - FGFR4 - PPP1CA - PITPNM1 - GSTP1 - CCND1 - ALDH3B2 - D11S1337 - D11S1314 - D11S4184 - D11S916 - qter
    Authors Gene Map (98)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    24 - 4248 - 1244 - 2002 12077336
    24 - 4245 - 1243 - 2002 12077336
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
    Endocrinepancreas    
    Hearing/EquilibriumearinnercochleaCorti  Homo sapiens
    Nervousbraindiencephalonamygdala  
    Visualeyelens   
     eyeretina   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Hearing / Equilibriumhair cell receptor Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal region, which a phosphatidylinositol transfer domain and a novel Rho-inhibitory domain (Rid), and N-terminal PITP domain
  • an FFAT (two phenylalanines (FF) in an acidic tract) motif
  • two other domains, DDHD (heavy metal binding domain containing Asp and His residues) and LNS2, of unknown function
  • six putative transmembrane domains at the C terminus
  • HOMOLOGY
    interspecies homolog to Drosophila retinal degeneration B
    homolog to murine Pitpnm
    Homologene
    FAMILY
  • Class IIA PITP family
  • CATEGORY signaling , transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • in the Golgi apparatus in interphase cells, but it is recruited to the cleavage furrow and the midbody during cytokinesis
  • is an essential protein and is required for anterograde transport from the trans-Golgi network to the plasma membrane
  • translocates from the Golgi complex to the plasma membrane in response to Growth factor stimulation
  • basic FUNCTION
  • playing an essential role for cytokinesis
  • preemptive role for the PITPNM1 homologs in excluding endogenous and exogenous modified purine dNTPs from incorporation into DNA
  • participate in many cellular processes including cell signaling, membrane traffic, and lipid metabolism
  • 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
  • lipid-transfer protein PITPNM1 enhances EMT in mammary epithelial and breast cancer cells, and facilitates breast cancer metastasis
  • PITPNM1, PITPNM2, work in tandem to achieve different levels of feedback based on the consumption of PM (plasma membrane) Phosphatidylinositol 4,5-Bisphosphate and function at ER-PM junctions to mediate nonvesicular lipid transport between the ER and the PM
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    fatty acid
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • feedback mechanism that replenishes Plasma membrane (PM) INPP5J during receptor-induced Ca(2+) signaling via the Ca(2+) effector ESYT1 and the PITPNM1 at ER-PM junctions
  • cell & other membrane-associated
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    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