PLPP5 (Phospholipid Phosphatase 5)
Gene encoding a membrane-associated phosphatase involved in lipid metabolism and signaling
Gene Information Card
| Symbol | PLPP5 |
|---|---|
| Full Name | Phospholipid Phosphatase 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p11.23 |
| NCBI Gene ID | 84513 ncbi.nlm.nih.gov/gene/84513 |
| Ensembl ID | ENSG00000164742 |
| UniProt ID | Q8NEB5 |
| OMIM ID | 612491 |
| HGNC ID | 23619 |
| Aliases | PPAPDC3, PAP2D, PLPP5 |
Description
PLPP5 (phospholipid phosphatase 5) encodes a member of the phosphatidic acid phosphatase (PAP) family. The protein catalyzes the dephosphorylation of phosphatidic acid to diacylglycerol, playing a role in lipid metabolism and intracellular signaling. It is localized to the membrane and is involved in regulating phospholipid homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Kidney | 6.1 | Low |
| Liver | 4.3 | Low |
| Heart | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Moderate expression |
| HeLa | 7.5 | Low expression |
| K562 | 5.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of function |
| c.100C>T (p.Arg34Trp) | Missense | <0.01% | Unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidate phosphatase activity (GO:0008195) | • integral component of membrane (GO:0016021) |
| • phospholipid metabolic process (GO:0006644) | • phospholipid dephosphorylation (GO:0046839) |
Pathways
• Glycerophospholipid metabolism (Reactome: R-HSA-1483206)
• Phosphatidic acid metabolism (KEGG: map00564)
Protein Summary
PLPP5 is a 237-amino acid integral membrane protein with phosphatidate phosphatase activity. It converts phosphatidic acid to diacylglycerol, a key step in lipid signaling and membrane biogenesis. The protein is widely expressed, with highest levels in testis. No disease associations have been firmly established.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLPP5 Knockout HEK293 Cell Line | EDJ-KQ9326 | Human | 84513 | Details Get a Quote |
| PLPP5 Knockout A-549 Cell Line | EDJ-KQ37185 | Human | 84513 | Details Get a Quote |
| PLPP5 Knockout HCT 116 Cell Line | EDJ-KQ37186 | Human | 84513 | Details Get a Quote |
| PLPP5 Knockout HeLa Cell Line | EDJ-KQ37187 | Human | 84513 | Details Get a Quote |
