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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
Corresponding disease
MRAA mental retardation, ataxia and atrophy of brain
Location 19q13.2      Physical location : 42.801.184 - 42.806.952
Synonym name
  • PAF acetylhydrolase 29 kDa subunit
  • PAF-AH 29 kDa subunit
  • PAF-AH subunit gamma
  • PAF-AH1b alpha 1 subunit
  • EC.number 3.1.1.47
    DNA
    TYPE functioning gene
    STRUCTURE 5.77 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC388544 19 similar to Heterogeneous nuclear ribonucleoprotein A1 (Helix-destabilizing protein) (Single-strand binding protein) (hnRNP core protein A1) (HDP-1) (Topoisomerase-inhibitor suppressed) MGC42718 19q13.31 hypothetical protein MGC42718 DMRTC2 19q13.31 DMRT-like family C2 RPS19 19q13.2 ribosomal protein S19 CD79A 19q13.2-q13.3 CD79A antigen (immunoglobulin-associated alpha) ARHGEF1 19q13,13 Rho guanine nucleotide exchange factor (GEF) 1 LOC390937 19 similar to Erf RABAC1 19q13.13-q13.2 Rab acceptor 1 (prenylated) ATP1A3 19q13.2 ATPase, Na+/K+ transporting, alpha 3 polypeptide GRIK5 19q13.2 glutamate receptor, ionotropic, kainate 5 FLJ22059 19q13.31 hypothetical protein FLJ22059 POU2F2 19q13.31 POU domain, class 2, transcription factor 2 DEDD2 19q13.31 POU domain, class 2, transcription factor 2 KIAA1951 GSK3A 19q13.2 glycogen synthase kinase 3 alpha ERF 19q13.1 Ets2 repressor factor CIC 19q13.2 capicua homolog (Drosophila) PAFAH1B3 19q13.1 platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa MGC70924 19q13.31 hypothetical LOC284338 FLJ90805 19q13.31 hypothetical protein FLJ90805 EGFL4 19q12 EGF-like-domain, multiple 4 SBP1 19q13.31 HBV pre-s2 binding protein 1 LOC84518 19q13.31 protein related with psoriasis LIPE 19q13.1-q13.2 lipase, hormone-sensitive UNQ473 19q13.31 DMC LOC388545 19 similar to Zinc finger protein 216 CEACAM1 19q13.2 carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) CEACAMP2 19q13.2 carcinoembryonic antigen-related cell adhesion molecule pseudogene 2 CEACAM8 19q13.2 carcinoembryonic antigen-related cell adhesion molecule 8
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 869 29 231 - -
    6 - 1108 - 231 - -
    6 - 1086 29 231 - -
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Endocrineneuroendocrinepituitary  highly
    Nervousbrain   highly Homo sapiens
     nervecranial nerve  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text brain
    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