PLSCR3: Phospholipid Scramblase 3
A key regulator of phosphatidylserine exposure and apoptosis
Gene Information Card
| Symbol | PLSCR3 |
|---|---|
| Full Name | phospholipid scramblase 3 |
| Gene Type | protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 57048 ncbi.nlm.nih.gov/gene/57048 |
| Ensembl ID | ENSG00000167967 |
| UniProt ID | Q9NRY6 |
| OMIM ID | 607610 |
| HGNC ID | 16489 |
| Aliases | PL scramblase 3, scramblase 3, PLSCR3 |
Description
PLSCR3 encodes phospholipid scramblase 3, a member of the phospholipid scramblase family. This protein is localized to the plasma membrane and mitochondria, where it mediates the bidirectional movement of phospholipids across the lipid bilayer. It plays a critical role in phosphatidylserine exposure on the cell surface during apoptosis and is involved in mitochondrial function and calcium signaling.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered PLSCR3 expression affects phosphatidylserine exposure, influencing tumor cell apoptosis and immune evasion | PMID: 21947068, PMID: 23251472 |
| Alzheimer's disease | Dysregulation of phospholipid scrambling may contribute to amyloid-beta toxicity and neuronal apoptosis | PMID: 23382689 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 15.1 | Medium |
| Liver | 20.4 | High |
| Lung | 9.7 | Low |
| Pancreas | 11.2 | Medium |
| Spleen | 14.8 | Medium |
| Testis | 18.6 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 16.3 | Cervical cancer cell line |
| HepG2 | 22.1 | Hepatocellular carcinoma cell line |
| A549 | 10.5 | Lung carcinoma cell line |
| MCF7 | 13.9 | Breast cancer cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.344G>A (p.Arg115Gln) | Missense | Rare | Unknown functional effect |
| c.502C>T (p.Arg168Trp) | Missense | Rare | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in PLSCR3.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in PLSCR3.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported in PLSCR3.
View complete mutation data:
Gene Ontology (GO)
| • phospholipid scrambling (GO:0017121) | • apoptotic process (GO:0006915) |
| • plasma membrane (GO:0005886) | • mitochondrion (GO:0005739) |
| • calcium ion binding (GO:0005509) |
Pathways
• Apoptosis - phosphatidylserine exposure
• Calcium signaling pathway
Protein Summary
Phospholipid scramblase 3 is a 295-amino acid protein that catalyzes the rapid bidirectional movement of phospholipids across membranes. It is essential for the externalization of phosphatidylserine during apoptosis, facilitating recognition and clearance by phagocytes. The protein contains a calcium-binding domain and is regulated by calcium and phosphorylation. PLSCR3 is expressed in multiple tissues, with highest levels in liver and testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLSCR3 Knockout HEK293 Cell Line | EDJ-KQ14810 | Human | 57048 | Details Get a Quote |
| PLSCR3 Knockout A-549 Cell Line | EDJ-KQ45238 | Human | 57048 | Details Get a Quote |
| PLSCR3 Knockout HCT 116 Cell Line | EDJ-KQ45239 | Human | 57048 | Details Get a Quote |
| PLSCR3 Knockout HeLa Cell Line | EDJ-KQ45240 | Human | 57048 | Details Get a Quote |
| PLSCR3 Knockout IPAM 3D4/21 Cell Line | EDJ-KZ406 | Pig | 102163020 | Details Get a Quote |