PLD1 Gene - Phospholipase D1
A key enzyme in phospholipid metabolism, cell signaling, and vesicle trafficking, implicated in cancer and neurological disorders.
Gene Information Card
| Symbol | PLD1 |
|---|---|
| Full Name | phospholipase D1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q26.31 |
| NCBI Gene ID | 5337 ncbi.nlm.nih.gov/gene/5337 |
| Ensembl ID | ENSG00000075651 |
| UniProt ID | Q13393 |
| OMIM ID | 602382 |
| HGNC ID | 9067 |
| Aliases | PLD1A, PLD1B, choline phosphatase 1 |
Description
PLD1 encodes phospholipase D1, an enzyme that catalyzes the hydrolysis of phosphatidylcholine to generate phosphatidic acid and choline. This reaction is a critical step in intracellular signaling, membrane trafficking, and cytoskeletal reorganization. PLD1 is regulated by small GTPases (e.g., ARF, Rho) and protein kinase C, and its activity is implicated in cell proliferation, migration, and survival.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | PLD1 overexpression promotes cell proliferation and metastasis via phosphatidic acid-mediated signaling | PMID: 25605248 |
| Alzheimer disease | Altered PLD1 activity affects amyloid-beta production and synaptic function | PMID: 28459430 |
| Colorectal cancer | PLD1 upregulation correlates with poor prognosis and increased invasion | PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Breast | 15.2 | Medium |
| Colon | 10.1 | Medium |
| Liver | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| MCF7 (breast cancer) | 18.4 | High expression |
| A549 (lung cancer) | 9.2 | Moderate expression |
| HEK293 (embryonic kidney) | 7.5 | Low expression |
| HCT116 (colorectal cancer) | 14.8 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.260G>A (p.Arg87His) | Missense | <0.01% | Altered catalytic activity |
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional impact |
| c.1891_1893del (p.Glu631del) | In-frame deletion | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants (e.g., p.Arg87His) may reduce catalytic activity, impairing phosphatidic acid production and downstream signaling.
Gain of Function (GOF)
Amplification of PLD1 at 3q26.31 is observed in several cancers, leading to increased enzyme activity and enhanced proliferative signaling.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported in PLD1.
View complete mutation data：
Gene Ontology (GO)
| • phospholipase D activity (GO:0004630) | • phosphatidylcholine metabolic process (GO:0046470) |
| • intracellular signal transduction (GO:0035556) | • vesicle-mediated transport (GO:0016192) |
| • cell migration (GO:0016477) |
Pathways
• Phospholipase D signaling pathway (KEGG: hsa04072)
• Fc epsilon RI signaling pathway (KEGG: hsa04664)
• Ras signaling pathway (KEGG: hsa04014)
Protein Summary
Phospholipase D1 (PLD1) is a 1074-amino-acid protein containing a phox homology (PX) domain, a pleckstrin homology (PH) domain, and two HKD catalytic motifs essential for lipase activity. It localizes primarily to the plasma membrane and intracellular vesicles, where it generates the lipid second messenger phosphatidic acid. PLD1 is involved in receptor-mediated endocytosis, exocytosis, and cytoskeletal dynamics. Dysregulation of PLD1 expression or activity contributes to oncogenic transformation and neurodegenerative processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLD1 Knockout HEK293 Cell Line | EDJ-KQ1250 | Human | 5337 | Details Get a Quote |
| GPLD1 Knockout HEK293 Cell Line | EDJ-KQ4755 | Human | 2822 | Details Get a Quote |
| ZPLD1 Knockout HEK293 Cell Line | EDJ-KQ9264 | Human | 131368 | Details Get a Quote |
| CRISPLD1 Knockout HEK293 Cell Line | EDJ-KQ9887 | Human | 83690 | Details Get a Quote |
| PLD1 Knockout A-549 Cell Line | EDJ-KQ20623 | Human | 5337 | Details Get a Quote |
| PLD1 Knockout HCT 116 Cell Line | EDJ-KQ20624 | Human | 5337 | Details Get a Quote |
| PLD1 Knockout HeLa Cell Line | EDJ-KQ20625 | Human | 5337 | Details Get a Quote |
| GPLD1 Knockout A-549 Cell Line | EDJ-KQ27520 | Human | 2822 | Details Get a Quote |
| GPLD1 Knockout HCT 116 Cell Line | EDJ-KQ27521 | Human | 2822 | Details Get a Quote |
| CRISPLD1 Knockout A-549 Cell Line | EDJ-KQ36768 | Human | 83690 | Details Get a Quote |
| CRISPLD1 Knockout HeLa Cell Line | EDJ-KQ36769 | Human | 83690 | Details Get a Quote |
| GPLD1 Knockout HeLa Cell Line | EDJ-KQ53382 | Human | 2822 | Details Get a Quote |
| ZPLD1 Knockout HeLa Cell Line | EDJ-KQ58293 | Human | 131368 | Details Get a Quote |
| ZPLD1 Knockout A-549 Cell Line | EDJ-KQ66781 | Human | 131368 | Details Get a Quote |
| CRISPLD1 Knockout HCT 116 Cell Line | EDJ-KQ74391 | Human | 83690 | Details Get a Quote |
Displaying Records 1 To 15 Of 17 Records
