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FLASH GENE
Symbol PGAP3 contributors: mct - updated : 11-03-2014
HGNC name post-GPI attachment to proteins 3
HGNC id 23719
Corresponding disease
HPMRS4 hyperphosphatasia with mental retardation syndrome 4
Location 17q12      Physical location : 37.827.375 - 37.844.310
Synonym name
  • CAB2 protein
  • per1-like domain containing 1
  • COS16 homolog
  • gene coamplified with ERBB2 protein
  • Synonym symbol(s) CAB2, PP1498, AGLA546, MGC9753, PERLD1, UNQ546/PRO1100
    DNA
    TYPE functioning gene
    SPECIAL FEATURE component of a cluster
    text clustered with PPP1R1B, STARD3, TCAP, PNMT, ERBB2 and GRB7 genes within the 120-kb region
    STRUCTURE 16.94 kb     8 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 2708 - 320 - 2002 1246045
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Lymphoid/Immunethymus    
    Nervousbrainbasal nucleicaudate nucleus  
    Reproductivemale systemprostate   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductiveepithelial cell
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal six-cysteine domain
  • an N-glycosylation site
  • HOMOLOGY
    interspecies homolog to yeast Cos16
    intraspecies homolog to CABP2
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    basic FUNCTION
  • is required for GPI-phospholipase A2 activity and involved in lipid remodeling of GPI-anchored proteins
  • PGAP3-dependent fatty acid remodeling of GPI-APs has a significant role in the control of autoimmunity, possibly by the regulation of apoptotic cell clearance and Th1/Th2 balance
  • required for the repair of DNA double-strand breaks
  • involved in GPI-anchor maturation
  • responsible for the modification of the fatty acid residues on the GPI anchor in a maturation process that occurs in the ER and Golgi
  • CELLULAR PROCESS nucleotide, repair
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HPMRS4
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   amplification    
    breast and gastric cancer
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS