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FLASH GENE
Symbol PAFAH1B3 contributors: mct - updated : 28-04-2012
HGNC name platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa
HGNC id 8576
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer heteromer , dimer
HOMOLOGY
Homologene
FAMILY platelet-activating factor acetylhydrolase Ib beta/gamma subunits family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,endosome
text located on early-sorting endosomes and the central endocytic recycling compartment (ERC) 1)
basic FUNCTION
  • inactivator of PAF, by removing the acetyl group at the SN-2 position
  • plays an important role during the development of brain
  • potent regulator of platelet activating factor activity, plays an important role in various physiological and pathophysiological functions including development, reproduction, inflammation, hemostasis, and apoptosis
  • PAFAh1B2 and PAFAH1B3 have profoundly different effects on brain development and interact in a significantly different manner with the Reelin signaling pathway
  • antagonistic effect of PAFAH1B2, PAFAH1B3 and NDEL1 for PAFAH1B1 binding, probably to modulate dynein functions
  • PAFAH1B2 and PAFAH1B3 expression levels affect the distribution of endosomes within the cell through interactions with the dynein regulator PAFAH1B1
  • PAFAH Ib regulates endocytic membrane trafficking through novel mechanisms involving both PLA(2) activity and PAFAH1B1-dependent dynein function
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • formed of three subunits of 45 kDa (alpha), 30 kDa (beta) and 29kDa (gamma)
  • PAFAH1B catalytic subunit
  • tetramer of two catalytic subunits, ALPHA1 (PAFAH1B3) and ALPHA2 (PAFAH1B2), and a regulatory dimer of LIS1 (PAFAH1B1)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds the Reelin receptor VLDLR
  • PAFAH1B3 and PAFAH1B2, were able to compete against NDEL1 and dynein for PAFAH1B1 binding in a dose-dependent manner (
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MRAA
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS