GPX1: Glutathione Peroxidase 1
A key antioxidant enzyme protecting cells from oxidative damage
Gene Information Card
| Symbol | GPX1 |
|---|---|
| Full Name | Glutathione Peroxidase 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 2876 ncbi.nlm.nih.gov/gene/2876 |
| Ensembl ID | ENSG00000233276 |
| UniProt ID | P07203 |
| OMIM ID | 138320 |
| HGNC ID | 4553 |
| Aliases | GPx-1, GSHPx-1, GPXD |
Description
GPX1 encodes glutathione peroxidase 1, a selenium-dependent enzyme that catalyzes the reduction of hydrogen peroxide and organic hydroperoxides to water and alcohols using reduced glutathione. It is a major antioxidant enzyme protecting cells from oxidative stress. The gene contains a selenocysteine (Sec) residue encoded by a UGA codon, which is critical for its catalytic activity. Polymorphisms in GPX1 have been associated with altered enzyme activity and increased risk of various cancers, cardiovascular diseases, and Keshan disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Keshan disease | Reduced GPX1 activity due to selenium deficiency leads to impaired antioxidant defense in cardiac tissue | OMIM #138320; PubMed studies |
| Breast cancer | GPX1 Pro198Leu polymorphism (rs1050450) associated with decreased enzyme activity and increased cancer risk | ClinVar; multiple case-control studies |
| Cardiovascular disease | Oxidative stress from reduced GPX1 activity contributes to endothelial dysfunction and atherosclerosis | NCBI Gene; PubMed reviews |
| Type 2 diabetes | GPX1 deficiency exacerbates insulin resistance via increased oxidative stress | Animal models; human association studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 10.2 | High |
| Blood | 8.7 | Medium |
| Lung | 6.3 | Medium |
| Heart | 5.1 | Medium |
| Brain | 2.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.0 | Hepatocellular carcinoma cell line |
| HEK293 | 9.5 | Embryonic kidney cells |
| K562 | 7.8 | Chronic myelogenous leukemia |
| A549 | 6.2 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs1050450 (Pro198Leu) | Missense | ~30% in Caucasians | Reduced enzyme activity; increased cancer risk |
| rs1800668 (C-593T) | Promoter | ~15% | Altered transcription factor binding; variable expression |
| rs3448 (3' UTR) | UTR variant | ~20% | Potential impact on mRNA stability |
Mutation functional classification
Loss of Function (LOF)
Pro198Leu (rs1050450) reduces catalytic efficiency by ~20-40%
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glutathione metabolism (KEGG: hsa00480)
• Reactive oxygen species degradation (Reactome: R-HSA-3299685)
Protein Summary
GPX1 is a 22 kDa homotetrameric selenoprotein. Each subunit contains one selenocysteine residue at position 47, essential for catalytic activity. The enzyme uses glutathione as a reducing agent to detoxify hydrogen peroxide and lipid peroxides. It is ubiquitously expressed, with highest levels in liver, kidney, and erythrocytes. GPX1 knockout mice are viable but highly sensitive to oxidative stress, confirming its protective role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPX1 Knockout HEK293 Cell Line | EDJ-KQ50314 | Human | 2876 | Details Get a Quote |
| GPX1 Knockout HeLa Cell Line | EDJ-KQ53415 | Human | 2876 | Details Get a Quote |
| GPX1 Knockout A-549 Cell Line | EDJ-KQ61891 | Human | 2876 | Details Get a Quote |
| GPX1 Knockout HCT 116 Cell Line | EDJ-KQ70371 | Human | 2876 | Details Get a Quote |
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