GSTO1: Glutathione S-Transferase Omega 1
A key enzyme in cellular detoxification and redox homeostasis, implicated in cancer, neurodegenerative diseases, and inflammatory disorders.
Gene Information Card
| Symbol | GSTO1 |
|---|---|
| Full Name | Glutathione S-Transferase Omega 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q25.1 |
| NCBI Gene ID | 9446 ncbi.nlm.nih.gov/gene/9446 |
| Ensembl ID | ENSG00000148834 |
| UniProt ID | P78417 |
| OMIM ID | 605482 |
| HGNC ID | 4632 |
| Aliases | GSTO 1, GSTO1-1, MGC138267, MGC138269, P28 |
Description
GSTO1 encodes a member of the omega class of glutathione S-transferases (GSTs), which are involved in cellular detoxification of xenobiotics and endogenous compounds. The enzyme exhibits glutathione-dependent thiol transferase and dehydroascorbate reductase activities, playing a role in redox homeostasis, arsenic biotransformation, and modulation of ryanodine receptors. GSTO1 is widely expressed and has been linked to cancer susceptibility, Alzheimer's disease, and inflammatory conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's disease | GSTO1 polymorphisms (e.g., rs4925) may alter enzyme activity, affecting oxidative stress and amyloid-beta aggregation. | ClinVar, OMIM |
| Cancer (various types) | GSTO1 overexpression or altered activity influences detoxification of chemotherapeutic agents and reactive oxygen species, impacting drug resistance and tumor progression. | COSMIC, NCBI Gene |
| Arsenic toxicity | GSTO1 catalyzes the reduction of arsenate to arsenite, modulating arsenic metabolism and toxicity. | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 28.5 | High |
| Kidney | 22.3 | High |
| Lung | 15.7 | Medium |
| Brain | 10.2 | Medium |
| Heart | 8.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 (liver) | 30.1 | High expression |
| A549 (lung) | 18.4 | Medium expression |
| SH-SY5Y (neuroblastoma) | 12.6 | Medium expression |
| HEK293 (embryonic kidney) | 25.0 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs4925 (A140D) | Missense | 0.35 (global) | Reduced enzyme activity; associated with Alzheimer's risk |
| rs11509438 (E155K) | Missense | 0.02 | Altered catalytic efficiency; linked to arsenic metabolism |
| rs11191979 (intronic) | Intronic | 0.15 | Potential splicing effect; cancer susceptibility |
Mutation functional classification
Loss of Function (LOF)
rs4925 (A140D) reduces thioltransferase activity, impairing redox regulation.
Gain of Function (GOF)
Not well documented; some variants may increase dehydroascorbate reductase activity.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glutathione metabolism (Reactome: R-HSA-156590)
• Phase II conjugation (Reactome: R-HSA-156580)
• Arsenic detoxification (Reactome: R-HSA-5696394)
Protein Summary
GSTO1 is a 27.5 kDa cytosolic protein that forms homodimers. It contains a conserved GST N-terminal domain and a C-terminal domain with a unique active site cysteine (Cys32) that mediates thioltransferase and dehydroascorbate reductase activities. The enzyme is involved in cellular defense against oxidative stress, metabolism of arsenic, and modulation of calcium signaling via ryanodine receptors. Structural studies show a typical GST fold with an atypical catalytic mechanism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GSTO1 Knockout HEK293 Cell Line | EDJ-KQ3938 | Human | 9446 | Details Get a Quote |
| GSTO1 Knockout A-549 Cell Line | EDJ-KQ26180 | Human | 9446 | Details Get a Quote |
| GSTO1 Knockout HCT 116 Cell Line | EDJ-KQ26181 | Human | 9446 | Details Get a Quote |
| GSTO1 Knockout HeLa Cell Line | EDJ-KQ26182 | Human | 9446 | Details Get a Quote |
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