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FLASH GENE
Symbol PITPNB contributors: mct - updated : 23-12-2016
HGNC name phosphotidylinositol transfer protein, beta
HGNC id 9002
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveesophagus   highly
Endocrinethyroid   highly
Nervousbrain    
Reproductivefemale systemuteruscervix highly
Respiratoryrespiratory tracttrachea  highly
cell lineage
cell lines
fluid/secretion
at STAGE
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