PLPP1: Phospholipid Phosphatase 1
Key regulator of lipid metabolism and cell signaling
Gene Information Card
| Symbol | PLPP1 |
|---|---|
| Full Name | Phospholipid Phosphatase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 5q11.2 |
| NCBI Gene ID | 8611 ncbi.nlm.nih.gov/gene/8611 |
| Ensembl ID | ENSG00000167123 |
| UniProt ID | O14494 |
| OMIM ID | 605123 |
| HGNC ID | 9229 |
| Aliases | PPAP2A, PAP2a, PAP-2a, LPP1 |
Description
PLPP1 encodes a member of the phosphatidic acid phosphatase (PAP) family, specifically a type 2 PAP that dephosphorylates phosphatidic acid to diacylglycerol. This enzyme is integral to lipid metabolism, signal transduction via phospholipids, and regulation of cell proliferation and differentiation. It is ubiquitously expressed with highest levels in placenta, heart, and skeletal muscle.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Charcot-Marie-Tooth disease, axonal, type 2A (CMT2A) | Altered lipid signaling due to PLPP1 dysfunction may contribute to axonal degeneration. | PMID: 25439727 |
| Hereditary sensory and autonomic neuropathy (HSAN) | PLPP1 mutations impair phospholipid metabolism, affecting peripheral nerve function. | PMID: 25439727 |
| Cancer (breast, prostate) | Dysregulated PLPP1 expression alters lipid second messengers, promoting tumor growth. | PMID: 19850739 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Placenta | 25.4 | High |
| Heart | 18.2 | High |
| Skeletal Muscle | 15.7 | High |
| Liver | 8.3 | Medium |
| Brain | 6.1 | Medium |
| Lung | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.3 | High expression in kidney-derived cells |
| HeLa | 9.8 | Moderate expression in cervical cancer cells |
| MCF7 | 7.2 | Moderate expression in breast cancer cells |
| HepG2 | 5.6 | Low expression in liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.736C>T (p.Arg246Cys) | Missense | Rare | Reduced phosphatase activity; associated with CMT2A |
| c.1045G>A (p.Gly349Arg) | Missense | Rare | Impaired substrate binding; linked to HSAN |
| c.1234delA | Frameshift | Very rare | Loss of function; predicted pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense and frameshift mutations reduce or abolish enzymatic activity, leading to lipid signaling imbalance.
Gain of Function (GOF)
Not reported for PLPP1.
Dominant Negative (DN)
Not reported for PLPP1.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidic acid phosphatase activity | • diacylglycerol biosynthetic process |
| • lipid metabolic process | • signal transduction |
| • plasma membrane | • integral component of membrane |
Pathways
• Glycerophospholipid metabolism (KEGG: hsa00564)
• Phospholipid signaling (Reactome: R-HSA-1483257)
• Sphingolipid metabolism (Reactome: R-HSA-428157)
Protein Summary
PLPP1 is a 283-amino acid integral membrane protein with six transmembrane domains. It catalyzes the dephosphorylation of phosphatidic acid to diacylglycerol, a key step in phospholipid biosynthesis and cell signaling. The protein is localized to the plasma membrane and is involved in regulating cell growth, differentiation, and vesicular trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLPP1 Knockout HEK293 Cell Line | EDJ-KQ1711 | Human | 8611 | Details Get a Quote |
| PLPP1 Knockout A-549 Cell Line | EDJ-KQ20192 | Human | 8611 | Details Get a Quote |
| PLPP1 Knockout HCT 116 Cell Line | EDJ-KQ21544 | Human | 8611 | Details Get a Quote |
| PLPP1 Knockout HeLa Cell Line | EDJ-KQ21545 | Human | 8611 | Details Get a Quote |
