PLPP6: Phospholipid Phosphatase 6
A lipid phosphatase involved in phospholipid metabolism and potential roles in cancer and neurological disorders.
Gene Information Card
| Symbol | PLPP6 |
|---|---|
| Full Name | Phospholipid Phosphatase 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 64078 ncbi.nlm.nih.gov/gene/64078 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | Q8N4S9 |
| OMIM ID | 611648 |
| HGNC ID | 26185 |
| Aliases | PPAPDC3, PAP-2c, PLPP6 |
Description
PLPP6 (phospholipid phosphatase 6) encodes a member of the phosphatidic acid phosphatase type 2 family. The enzyme catalyzes the dephosphorylation of phosphatidic acid to diacylglycerol and of lysophosphatidic acid to monoacylglycerol, playing a role in phospholipid metabolism and signaling. It is involved in lipid biosynthesis and may influence cell proliferation and migration.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered lipid metabolism via PLPP6 may affect cell signaling and proliferation. | COSMIC; literature reports |
| Neurological disorders | Potential role in myelin lipid metabolism; dysregulation linked to neuropathology. | UniProt; limited studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Liver | 8.7 | Low |
| Kidney | 6.3 | Low |
| Testis | 12.1 | Medium |
| Lung | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.8 | Moderate expression |
| HeLa | 7.2 | Low expression |
| SH-SY5Y | 14.5 | Higher expression in neuronal cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional impact |
| c.452G>A (p.Arg151Gln) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; some missense variants may reduce phosphatase activity.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidate phosphatase activity (GO:0008195) | • integral component of membrane (GO:0016021) |
| • phospholipid metabolic process (GO:0006644) | • plasma membrane (GO:0005886) |
Pathways
• Glycerophospholipid metabolism (Reactome: R-HSA-1483206)
• Phospholipid metabolism (KEGG: map00564)
Protein Summary
PLPP6 is a 311-amino acid integral membrane protein with phosphatidate phosphatase activity. It localizes to the plasma membrane and endoplasmic reticulum, converting phosphatidic acid to diacylglycerol. This activity is crucial for lipid signaling and membrane biogenesis. The protein contains six transmembrane domains and a conserved phosphatase motif.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLPP6 Knockout HEK293 Cell Line | EDJ-KQ11695 | Human | 403313 | Details Get a Quote |
| PLPP6 Knockout A-549 Cell Line | EDJ-KQ40028 | Human | 403313 | Details Get a Quote |
| PLPP6 Knockout HCT 116 Cell Line | EDJ-KQ40029 | Human | 403313 | Details Get a Quote |
| PLPP6 Knockout HeLa Cell Line | EDJ-KQ40030 | Human | 403313 | Details Get a Quote |
