PLD3 Gene Summary [Human]

This gene encodes a member of the phospholipase D (PLD) family of enzymes that catalyze the hydrolysis of membrane phospholipids. The encoded protein is a single-pass type II membrane protein and contains two PLD phosphodiesterase domains. This protein influences processing of amyloid-beta precursor protein. Mutations in this gene are associated with Alzheimer disease risk. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Apr 2014]

Details

Type
Protein Coding
Official Symbol
PLD3
Official Name
phospholipase D family member 3 [Source:HGNC Symbol;Acc:HGNC:17158]
Ensembl ID
ENSG00000105223
Bio databases IDs NCBI: 23646 Ensembl: ENSG00000105223
Aliases phospholipase D family member 3
Synonyms AD19, HU-K4, phospholipase D family member 3, phospholipase D family, member 3, Sam-9, SCA46
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PLD3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Phospholipase D Active site motif
  • phospholipase D
  • PLD-like domain
  • enzyme
  • protein binding
  • Catalytic domain of phospholipase D superfamily proteins
  • single-stranded DNA specific 5'-3' exodeoxyribonuclease

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • neoplasia
  • uterine leiomyoma
  • leiomyomatosis
  • spinocerebellar ataxia type 46
regulated by
regulates
  • APP
  • Cxcl10
  • ganglioside GM1 (18:1/18:0)
  • LY6C
  • lysobisphosphatidic acid
  • Ccl7
  • TBK1
  • ganglioside GM3 (d18:1/16:0)
  • ganglioside GM1 (18:1/16:0)
  • MT-ND1
role in cell
  • expression in
  • quantity
  • differentiation
  • proliferation
  • number
  • formation
  • G2/M phase
  • accumulation
  • leakiness
  • phosphorylation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cellular membrane
  • endoplasmic reticulum membrane
  • Golgi membrane
  • lysosome membrane
  • lysosomal compartment
  • endosomal membrane

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human PLD3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • inflammatory response
  • myotube differentiation
  • regulation of cytokine production involved in inflammatory response
  • DNA metabolic process
  • immune system process

Cellular Component

Where in the cell the gene product is active
  • early endosome membrane
  • endoplasmic reticulum membrane
  • late endosome membrane
  • extracellular vesicular exosome
  • lysosomal lumen
  • Golgi membrane
  • lysosomal membrane

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • single-stranded DNA specific 5'-3' exodeoxyribonuclease activity
  • phospholipase D activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.