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.

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 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
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