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PLD1
phospholipase D1
PLD1 is located on the long (q) arm of chromosome 3, at band 3q26.31. Arm ratio per GRCh38 - banding schematic.
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Overview
PLD1 is located on chromosome 3 and encodes phospholipase D1, a lipid-modifying enzyme expressed in many human tissues. The enzyme catalyses the hydrolysis of phosphatidylcholine, one of the main phospholipids in cell membranes, to generate phosphatidic acid and choline. Phosphatidic acid acts as a signalling molecule that influences diverse cellular processes including membrane trafficking, secretion, and cytoskeletal organisation.
Phospholipase D1 is regulated by small GTPases and protein kinases, allowing cells to coordinate lipid signalling with other pathways. Whilst PLD1 has been studied extensively in laboratory models, the full spectrum of its roles in human physiology continues to be investigated.
What the gene does
Phospholipase D1 functions primarily as a lipid-modifying enzyme that cleaves the phosphodiester bond in phosphatidylcholine, releasing choline and producing phosphatidic acid. Phosphatidic acid serves as both a structural lipid component and a bioactive signalling molecule that recruits and activates downstream effector proteins.
The enzyme participates in vesicle budding and membrane fusion events, processes essential for intracellular transport and secretion. Research suggests that PLD1 activity influences the organisation of lipid microdomains within membranes, which can affect receptor signalling and protein localisation. The enzyme is activated by members of the Rho and ARF families of small GTPases, providing a mechanism for spatial and temporal control of lipid signalling. Through these activities, phospholipase D1 contributes to cellular responses including migration, proliferation, and adaptation to environmental changes.
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Chromosome location
PLD1 is located on the long arm of chromosome 3 at position 26.31 (3q26.31). This chromosomal region contains a number of genes involved in cellular signalling and metabolism. The precise exon count and transcript details for PLD1 vary across publicly available databases, reflecting the complexity of annotating this locus.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Genetic variants in PLD1 have been identified through sequencing studies, though the clinical significance of most variants remains under investigation. Changes in the DNA sequence can potentially affect enzyme activity, protein stability, or regulatory interactions. Because phospholipase D1 participates in several cellular processes, alterations in its function may have pleiotropic effects depending on the tissue context and the nature of the variant.
Sample of pathogenic variants
10 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.1219C>T | p.Arg407Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Cardiac valvular defect, developmental |
c.2034del | p.Trp678fs | Pathogenic | ★★☆☆ | Cardiac valvular defect, developmental |
c.2430-1G>A | - | Pathogenic/Likely pathogenic | ★★☆☆ | not provided |
c.1745del | p.Ser582fs | Pathogenic | ★☆☆☆ | not provided |
c.2914G>T | p.Glu972Ter | Pathogenic | ★☆☆☆ | not provided |
c.434+1G>T | - | Pathogenic | ★☆☆☆ | Cardiac valvular defect, developmental |
c.472C>T | p.Arg158Ter | Pathogenic | ★☆☆☆ | not provided |
c.665+1G>A | - | Pathogenic | ★☆☆☆ | not provided |
c.892C>T | p.Arg298Ter | Pathogenic | ★☆☆☆ | Cardiac valvular defect, developmental |
c.904_905del | p.Leu302fs | Pathogenic | ★☆☆☆ | not provided |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
At present, PLD1 is not prominently featured in clinical genetic panels for Mendelian disorders, and no specific inherited conditions have been definitively linked to pathogenic variants in this gene in routine diagnostic practice. Research into the gene's role in complex traits and cellular biology continues, but causative associations with well-defined genetic syndromes have not been established in the medical literature to date.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the PLD1 gene do?
The PLD1 gene encodes phospholipase D1, an enzyme that breaks down phosphatidylcholine to produce phosphatidic acid and choline. Phosphatidic acid functions as a signalling molecule involved in membrane trafficking, cell migration, and other cellular processes.
Where is the PLD1 gene located?
PLD1 is located on chromosome 3 at position 3q26.31. It resides on the long arm of chromosome 3 in a region that contains other genes involved in metabolism and signalling.
Are variants in PLD1 associated with inherited conditions?
Currently, PLD1 is not included in clinical diagnostic panels for well-characterised inherited conditions, and no specific genetic syndromes have been definitively attributed to pathogenic variants in this gene. Research into its biological roles is ongoing.