PLSCR5: Phospholipid Scramblase 5
A member of the phospholipid scramblase family involved in lipid asymmetry regulation and potential roles in cancer and immune response.
Gene Information Card
| Symbol | PLSCR5 |
|---|---|
| Full Name | Phospholipid Scramblase 5 |
| Gene Type | Protein-coding |
| Chromosomal Location | 3q24 |
| NCBI Gene ID | 389208 ncbi.nlm.nih.gov/gene/389208 |
| Ensembl ID | ENSG00000188486 |
| UniProt ID | A0PG75 |
| OMIM ID | 607610 |
| HGNC ID | 21020 |
| Aliases | PLSCR5, phospholipid scramblase 5 |
Description
PLSCR5 encodes a member of the phospholipid scramblase family, which catalyzes the bidirectional movement of phospholipids across the plasma membrane, disrupting lipid asymmetry. This gene is located on chromosome 3q24 and is expressed in various tissues. Its function is implicated in cell signaling, apoptosis, and potentially in cancer progression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression may disrupt membrane lipid asymmetry, affecting cell signaling and apoptosis. | NCBI Gene, COSMIC |
| Breast cancer | Overexpression observed in some studies; potential role in tumor progression. | COSMIC, NCBI Gene |
| Lung cancer | Mutations and expression changes reported in lung cancer samples. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.8 | Low |
| Spleen | 0.5 | Low |
| Lung | 0.3 | Low |
| Breast | 0.2 | Low |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.6 | Low expression |
| HeLa | 0.4 | Low expression |
| A549 | 0.3 | Low expression |
| MCF7 | 0.5 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.1% | Unknown |
| c.100C>T | Nonsense | <0.1% | Predicted loss of function |
| c.200_201insA | Frameshift | <0.1% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations likely lead to truncated or absent protein.
Gain of Function (GOF)
No evidence from curated databases.
Dominant Negative (DN)
No evidence from curated databases.
View complete mutation data:
Gene Ontology (GO)
| • phospholipid scramblase activity (GO:0017128) | • plasma membrane (GO:0005886) |
| • membrane (GO:0016020) | • lipid metabolic process (GO:0006629) |
Pathways
• Phospholipid scrambling (Reactome: R-HSA-1483257)
Protein Summary
PLSCR5 is a 295-amino acid protein with a predicted molecular weight of ~34 kDa. It contains a calcium-binding domain and is localized to the plasma membrane. The protein facilitates rapid transbilayer movement of phospholipids, a process critical for membrane remodeling during cell activation, apoptosis, and coagulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLSCR5 Knockout HEK293 Cell Line | EDJ-KQ14812 | Human | 389158 | Details Get a Quote |
| PLSCR5 Knockout HeLa Cell Line | EDJ-KQ60071 | Human | 389158 | Details Get a Quote |
| PLSCR5 Knockout A-549 Cell Line | EDJ-KQ68534 | Human | 389158 | Details Get a Quote |
| PLSCR5 Knockout HCT 116 Cell Line | EDJ-KQ76909 | Human | 389158 | Details Get a Quote |