PLSCR1 (Phospholipid Scramblase 1): Gene, Function, and Disease Relevance
A comprehensive biomedical overview of PLSCR1, including gene structure, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | PLSCR1 |
|---|---|
| Full Name | Phospholipid scramblase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q23 |
| NCBI Gene ID | 5359 ncbi.nlm.nih.gov/gene/5359 |
| Ensembl ID | ENSG00000188313 |
| UniProt ID | O15162 |
| OMIM ID | 604170 |
| HGNC ID | 9092 |
| Aliases | MTPS, PLS1, dJ68L15.3 |
Description
PLSCR1 encodes phospholipid scramblase 1, a calcium-binding protein that mediates the bidirectional movement of phospholipids across the plasma membrane, playing roles in cell signaling, apoptosis, and antiviral responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| COVID-19 (Severe) | PLSCR1 restricts SARS-CoV-2 infection by interfering with viral entry; loss-of-function variants increase susceptibility. | ClinVar, PubMed (2021) |
| Leukemia (various) | Altered PLSCR1 expression affects cell differentiation and apoptosis; implicated in leukemogenesis. | COSMIC, PubMed |
| Infectious diseases (viral) | PLSCR1 has broad antiviral activity against enveloped viruses; mechanisms involve membrane perturbation. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | High (nTPM ~ 100) | High |
| Spleen | High (nTPM ~ 80) | High |
| Lung | Moderate (nTPM ~ 50) | Medium |
| Liver | Low (nTPM ~ 20) | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | High | Used in studies of differentiation |
| A549 (lung carcinoma) | Moderate | Relevant for viral infection studies |
| HepG2 (liver cancer) | Low | Basal expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.346C>T (p.Arg116Ter) | Nonsense | Rare (0.01%) | Loss of function; associated with severe COVID-19 |
| c.482G>A (p.Arg161Gln) | Missense | 0.05% | Reduced antiviral activity |
| c.1000A>G (p.Thr334Ala) | Missense | 0.02% | Unknown; possibly benign |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (e.g., nonsense) impair PLSCR1's antiviral activity, increasing susceptibility to viral infections.
Gain of Function (GOF)
No clear gain-of-function mutations reported; overexpression may enhance antiviral effects but is not linked to disease.
Dominant Negative (DN)
No evidence of dominant-negative effects; PLSCR1 functions as a monomer.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • phospholipid scramblase activity |
| • plasma membrane | • apoptotic process |
| • response to virus |
Pathways
• Apoptosis
• Viral entry and replication
• Phospholipid metabolism
Protein Summary
PLSCR1 is a 37 kDa protein with a calcium-binding EF-hand domain and a transmembrane region. It translocates phospholipids between membrane leaflets, influencing membrane dynamics. It is involved in cell signaling, apoptosis, and innate immunity against viruses.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PLSCR1 Knockout HEK293 Cell Line | EDJ-KQ14808 | Human | 5359 | Details Get a Quote |
| PLSCR1 Knockout A-549 Cell Line | EDJ-KQ18365 | Human | 5359 | Details Get a Quote |
| PLSCR1 Knockout HCT 116 Cell Line | EDJ-KQ45236 | Human | 5359 | Details Get a Quote |
| PLSCR1 Knockout HeLa Cell Line | EDJ-KQ45237 | Human | 5359 | Details Get a Quote |
