Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol PLD3 contributors: mct - updated : 11-04-2022
HGNC name phospholipase D3
HGNC id 17158
Corresponding disease
SCA46 spinocerebellar ataxia 46
Location 19q13.2      Physical location : 40.854.331 - 40.884.389
Synonym name
  • HindIII K4L
  • choline phosphatase 3
    • Synonym symbol(s) HU-K4, AD19, HUK4, SCA46
    EC.number 3.1.16.1
    DNA
    TYPE functioning gene
    STRUCTURE 29.79 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    text extensive alternative splicing in the 5' untranslated region
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 1913 - 490 - 2021 33830999
    13 - 2137 - 490 - 2021 33830999
    13 - 2117 - 490 - 2021 33830999
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart   highly
    Digestivestomach   highly
    Nervousbrain   predominantly Homo sapiens
    Reproductivefemale systembreast   
     female systemovary  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone  highly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    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