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FLASH GENE
Symbol PLD3 contributors: mct - updated : 11-04-2022
HGNC name phospholipase D3
HGNC id 17158
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to murine Pld3
Homologene
FAMILY phospholipase D superfamily
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,endoplasmic reticulum
intracellular,cytoplasm,organelle,Golgi
intracellular,cytoplasm,organelle,endosome
intracellular,cytoplasm,organelle,lysosome
text having a type 2 transmembrane topology
basic FUNCTION
  • phospholipase activity
  • may have a house-keeping function
  • in response to ARF, alters the lipid content of membranes, converting phospholipids into phosphatidic acid
  • plays likely a role in myogenesis during myotube formation, potentially in the events surrounding ER reorganization
  • PLD3, PLD4 are needed to regulate inflammatory cytokine responses via the degradation of nucleic acids
  • PLD3 has phospholipase D activity in lysosomes
  • PLD3 and PLD4 are endosomal exonucleases that regulate the innate immune response by digesting the ligands of nucleic acid sensors
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • PLD3 protein may contribute to Alzheimer's disease (AD) development by modifying APP processing
    • cell & other
    REGULATION
    activated by ADP ribosylation factor (ARF)
    Other brefeldin blocks PLD3 activation
    ASSOCIATED DISORDERS
    corresponding disease(s) SCA46
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in Alzheimer disease (AD) brains, which was negatively correlated with amyloid precursor protein (APP) and amyloid-beta (Abeta) levels
    constitutional     --low  
    in the human hippocampus in AD cases compared to controls
    Susceptibility to Alzheimer's disease (AD)
    Variant & Polymorphism other
  • coding variant confers increased risk for the development of Alzheimer's disease (AD)
    • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    neurologyneurodegenerativealzheimer
    targeting PLD3 may provide new opportunities for AD therapeutic strategies
    ANIMAL & CELL MODELS