PLPPR1
Phospholipid Phosphatase Related 1
Gene Information Card
| Symbol | PLPPR1 |
|---|---|
| Full Name | Phospholipid Phosphatase Related 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 54886 ncbi.nlm.nih.gov/gene/54886 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q8TBJ3 |
| OMIM ID | 614769 |
| HGNC ID | 19677 |
| Aliases | LPPR1, PAPR1, PRG-1 |
Description
PLPPR1 encodes a member of the phospholipid phosphatase-related protein family. The protein is predicted to be a multi-pass membrane protein involved in phospholipid metabolism and cell signaling. It is expressed in various tissues, with highest levels in brain and testis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | Not applicable | Not applicable |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Medium |
| Lung | 4.1 | Low |
| Liver | 2.0 | Low |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 5.2 | Moderate expression |
| HeLa | 3.8 | Low expression |
| K562 | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No confirmed dominant-negative variants reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidate phosphatase activity (GO:0008195) | • integral component of membrane (GO:0016021) |
| • phospholipid metabolic process (GO:0006644) |
Pathways
• ['Phospholipid metabolism'
• 'Reactome']
Protein Summary
PLPPR1 is a 316-amino acid multi-pass membrane protein with phosphatidate phosphatase activity. It is involved in phospholipid dephosphorylation and may play a role in cell signaling and membrane dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLPPR1 Knockout HEK293 Cell Line | EDJ-KQ14806 | Human | 54886 | Details Get a Quote |
| PLPPR1 Knockout HeLa Cell Line | EDJ-KQ56495 | Human | 54886 | Details Get a Quote |
| PLPPR1 Knockout A-549 Cell Line | EDJ-KQ64985 | Human | 54886 | Details Get a Quote |
| PLPPR1 Knockout HCT 116 Cell Line | EDJ-KQ73431 | Human | 54886 | Details Get a Quote |
