PLSCR4: Phospholipid Scramblase 4
Gene encoding a calcium-dependent phospholipid scramblase involved in membrane dynamics and signaling
Gene Information Card
| Symbol | PLSCR4 |
|---|---|
| Full Name | phospholipid scramblase 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 3q24 |
| NCBI Gene ID | 57088 ncbi.nlm.nih.gov/gene/57088 |
| Ensembl ID | ENSG00000114520 |
| UniProt ID | Q9NRQ2 |
| OMIM ID | 607612 |
| HGNC ID | 16495 |
| Aliases | Ca(2+)-dependent phospholipid scramblase 4, PL scramblase 4, TRA1 |
Description
PLSCR4 encodes a member of the phospholipid scramblase family. The protein is a calcium-dependent phospholipid scramblase that mediates the bidirectional movement of phospholipids across the plasma membrane, leading to loss of membrane asymmetry and exposure of phosphatidylserine on the cell surface. This process is critical for various cellular functions including blood coagulation, apoptosis, and cell signaling. PLSCR4 is widely expressed and may also play roles in cell proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered PLSCR4 expression may affect phosphatidylserine exposure, influencing tumor immune evasion and metastasis. | COSMIC; literature (PMID: 25691885) |
| Inflammatory disorders | PLSCR4-mediated phosphatidylserine exposure modulates macrophage clearance of apoptotic cells; dysregulation linked to chronic inflammation. | UniProt; literature (PMID: 12640119) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 18.5 | Medium |
| Spleen | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Kidney | 10.1 | Low |
| Liver | 8.3 | Low |
| Heart | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.4 | High expression in embryonic kidney cells |
| HeLa | 19.1 | Moderate expression in cervical cancer cells |
| K562 | 14.6 | Moderate expression in leukemia cells |
| A549 | 12.3 | Low expression in lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.107C>T (p.Pro36Leu) | missense | <0.1% | Unknown functional impact; rare variant |
| c.421G>A (p.Gly141Ser) | missense | <0.1% | Unknown functional impact; rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in PLSCR4.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PLSCR4.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in PLSCR4.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • phospholipid scrambling (GO:0017121) |
| • calcium ion binding (GO:0005509) | • intracellular membrane-bounded organelle (GO:0043231) |
| • protein binding (GO:0005515) |
Pathways
• Phospholipid scrambling (Reactome: R-HSA-1483226)
• Apoptosis - extrinsic pathway (Reactome: R-HSA-109581)
Protein Summary
PLSCR4 is a 329-amino acid protein with a single transmembrane domain and a calcium-binding EF-hand motif. It is localized to the plasma membrane and, upon calcium elevation, scrambles phospholipids, exposing phosphatidylserine. This activity is essential for apoptotic cell clearance, coagulation, and membrane remodeling. The protein also contains a nuclear localization signal and may shuttle between membrane and nucleus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLSCR4 Knockout HEK293 Cell Line | EDJ-KQ14069 | Human | 57088 | Details Get a Quote |
| PLSCR4 Knockout A-549 Cell Line | EDJ-KQ45241 | Human | 57088 | Details Get a Quote |
| PLSCR4 Knockout HCT 116 Cell Line | EDJ-KQ45242 | Human | 57088 | Details Get a Quote |
| PLSCR4 Knockout HeLa Cell Line | EDJ-KQ45243 | Human | 57088 | Details Get a Quote |
