PLD1
Function
Function as phospholipase selective for phosphatidylcholine (PubMed:25936805, PubMed:8530346, PubMed:9582313). Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic (By similarity).
Involvement in disease
Cardiac valvular dysplasia 1
CVDP1
An autosomal recessive form of congenital heart defects, characterized by valvular malformations involving the pulmonic, tricuspid and mitral valves.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the phospholipase D family.
Tissue Specificity
Expressed abundantly in the pancreas and heart and at high levels in brain, placenta, spleen, uterus and small intestine.
Cellular localization
- Cytoplasm
- Perinuclear region
- Endoplasmic reticulum membrane
- Lipid-anchor
- Cytoplasmic side
- Golgi apparatus membrane
- Lipid-anchor
- Cytoplasmic side
- Late endosome membrane
- Lipid-anchor
- Cytoplasmic side
Alternative names
Phospholipase D1, PLD 1, hPLD1, Choline phosphatase 1, Phosphatidylcholine-hydrolyzing phospholipase D1, PLD1