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FLASH GENE
Symbol GNPAT contributors: mct - updated : 15-10-2013
HGNC name glyceronephosphate O-acyltransferase
HGNC id 4416
Corresponding disease
RCDP2 rhizomelic chondrodysplasia punctata, type 2
Location 1q42.2      Physical location : 231.376.918 - 231.413.718
Synonym name
  • acyl-CoA dihydroxyacetone phosphate acyltransferase
  • dihydroxyacetone phosphate acyltransferase
  • Synonym symbol(s) DHAPAT, DAP-AT, DAPAT, DAPT
    EC.number 2.3.1.42
    DNA
    TYPE functioning gene
    STRUCTURE 36.80 kb     16 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status tentative : very preliminary evidence
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 - 2687 77 680 - 2012 21990100
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
    Lymphoid/Immunespleen   highly
     tonsils   highly
    Respiratorylung   highly
    Visualeyelens   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • PTS1 consensus sequence at the C terminus
  • serine-rich stretch of 11AA preceding N terminal AA sequence
  • a peroxisomal targe
  • mono polymer heteromer , trimer
    HOMOLOGY
    interspecies homolog to murine Gnpat
    Homologene
    FAMILY
  • Gpat/Dapat family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,lumen
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,peroxisome
    basic FUNCTION
  • playing an essential role for the biosynthesis of plasmalogens
  • catalyzing the first steps of (role in maintaining lens transparency)
  • playing a major role in etherphospholipid biosynthesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    fatty acid metabolism/ether phospholipid biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RCDP2
    Susceptibility to schizophrenia
    Variant & Polymorphism other
  • block 1 (five-SNP), located between intron 2 and intron 13 of GNPAT, showed the most significant associations with schizophrenia
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice deficient in Gnpat, essential for the synthesis of ether lipids, had significant alteration of the thymic maturation of semi-invariant natural killer T cells (iNKT cells) and fewer iNKT cells in both thymus and peripheral organs, which confirmed the role of ether-bonded lipids as iNKT cell antigens