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FLASH GENE
Symbol PITPNB contributors: mct - updated : 23-12-2016
HGNC name phosphotidylinositol transfer protein, beta
HGNC id 9002
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • N-terminal PITP domain
  • Ser262 present in the C-terminus of PITPNB is constitutively phosphorylated and determines Golgi localization
    • HOMOLOGY
    interspecies homolog to murine Pitpub
    intraspecies homolog to PITPN
    Homologene
    FAMILY
  • PTDINS transfer protein family
  • Class I PITP family
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    text
  • localise to the Golgi and ER
    • basic FUNCTION
  • catalyzing the transfer of PTDINS and phosphatidylcholine between membranes
  • essential protein that possesses phosphatidylinositol (PtdIns) and phosphatidylcholine (PtdCho) lipid transfer activity, and PtdIns and PtdCho exchange activity of PITPNB is essential for COPI-mediated retrograde transport from the Golgi to the ER
  • is essential and is required for retrograde traffic from the Golgi to the endoplasmic reticulum and for maintenance of the nuclear architecture
  • 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
    text vesicular transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein binding and transferring sphingomyelin (SM), activity correlated with phosphorylation of Ser262, which is only present in PITPNB
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in Atopic dermatitis (AD)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS