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FLASH GENE
Symbol PITPNB contributors: mct - updated : 23-12-2016
HGNC name phosphotidylinositol transfer protein, beta
HGNC id 9002
Location 22q12.1      Physical location : 28.247.657 - 28.315.255
Synonym symbol(s) PPI2, PI-TP-beta, PtdInsTP, VIB1B
DNA
TYPE functioning gene
STRUCTURE 67.64 kb     11 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status provisional
Map cen - D22S1167 - D22S1144 - D22S1163 - D22S1148 - SEZ6L - D22S1154 - HMG1L10 - TPST2 - CRYBA4 /CRYBB1 - MN1 MN1 - PITPNB - D22S689 - D22S1150 - qter
Authors Dunham (99),Eisenbarth (01)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
11 - 2895 - 272 both PITPNB variants localize to the Golgi 2006 16780419
  • variant (sp2)
  • the C-terminal 15 amino acids of PITPNB-sp1 are replaced by an alternative C-terminus of 16 amino acids
  • is a product of the first 10 exons followed by the twelfth exon--exon 11 being 'skipped'
  • lacks the constitutively phosphorylated Ser262 (replaced with glutamine)
    • 12 - 2981 - 271 both PITPNB variants localize to the Golgi 2006 16780419
  • variant (sp1)
  • is the product of the first 11 exons
    • 12 - 2959 - 273 - 2006 16780419
  • variant (sp3)
    		•
    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