GSTM1: Glutathione S-Transferase Mu 1
A key phase II detoxification enzyme involved in xenobiotic metabolism and associated with cancer susceptibility and drug response.
Gene Information Card
| Symbol | GSTM1 |
|---|---|
| Full Name | Glutathione S-Transferase Mu 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p13.3 |
| NCBI Gene ID | 2944 ncbi.nlm.nih.gov/gene/2944 |
| Ensembl ID | ENSG00000134184 |
| UniProt ID | P09488 |
| OMIM ID | 138350 |
| HGNC ID | 4632 |
| Aliases | GST1, GSTM1-1, GSTM1a, GSTM1b, H-B, MU, MU-1 |
Description
GSTM1 (Glutathione S-Transferase Mu 1) encodes a member of the mu class of glutathione S-transferases (GSTs), which are phase II detoxification enzymes. These enzymes catalyze the conjugation of reduced glutathione to a wide variety of electrophilic compounds, including carcinogens, therapeutic drugs, environmental toxins, and oxidative stress products. The GSTM1 gene is highly polymorphic; a common homozygous deletion (null allele) results in complete loss of enzyme activity. This null genotype is associated with increased susceptibility to various cancers and altered drug metabolism. The gene is expressed primarily in the liver, kidney, and gastrointestinal tract.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bladder Cancer | GSTM1 null genotype reduces detoxification of carcinogens (e.g., aromatic amines), increasing DNA damage and cancer risk. | Multiple case-control studies (meta-analyses) show significant association (OR ~1.4-1.6) for GSTM1 null with bladder cancer (PMID: 15674856, 19033660). |
| Lung Cancer | Impaired detoxification of polycyclic aromatic hydrocarbons from tobacco smoke leads to increased mutagenesis. | Meta-analyses report modest increased risk (OR ~1.2-1.3) for GSTM1 null in smokers (PMID: 16489001, 19033660). |
| Colorectal Cancer | Reduced ability to detoxify dietary and environmental carcinogens may promote colorectal carcinogenesis. | Meta-analyses show a small but significant association (OR ~1.1-1.2) for GSTM1 null (PMID: 19033660, 21217834). |
| Acute Myeloid Leukemia (AML) | GSTM1 null may alter metabolism of chemotherapeutic agents and increase susceptibility to therapy-related AML. | Case-control studies suggest increased risk (OR ~1.5-2.0) for GSTM1 null in therapy-related AML (PMID: 10602318, 19033660). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 45.2 | High |
| Kidney | 32.1 | High |
| Small Intestine | 28.5 | High |
| Colon | 18.7 | Medium |
| Stomach | 15.3 | Medium |
| Lung | 8.9 | Low |
| Breast | 4.2 | Low |
| Brain | 1.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 52.3 | Hepatocellular carcinoma cell line; high expression |
| HEK293 | 38.7 | Embryonic kidney cells; moderate expression |
| A549 | 12.4 | Lung adenocarcinoma; low expression |
| MCF7 | 3.1 | Breast adenocarcinoma; very low expression |
| K562 | 1.8 | Chronic myeloid leukemia; very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| GSTM1*0 (null allele) | Homozygous deletion | ~50% in Caucasians, ~30-50% in Asians, ~20-30% in Africans | Complete loss of enzyme activity; associated with increased cancer risk and altered drug metabolism. |
| GSTM1*A (rs366631) | SNP (c.519C>A, p.Asn173Lys) | Common (allele frequency ~0.3-0.5) | No significant change in enzyme activity; used as a marker for haplotype analysis. |
| GSTM1*B (rs1065411) | SNP (c.534C>T, synonymous) | Common (allele frequency ~0.2-0.4) | No known functional effect. |
Mutation functional classification
Loss of Function (LOF)
The GSTM1*0 null allele (homozygous deletion) results in complete loss of GSTM1 enzyme activity, impairing detoxification of electrophilic compounds and increasing susceptibility to carcinogens and oxidative stress.
Gain of Function (GOF)
No gain-of-function mutations have been reported for GSTM1.
Dominant Negative (DN)
No dominant-negative mutations have been described for GSTM1.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glutathione metabolism (KEGG: hsa00480)
• Metabolism of xenobiotics by cytochrome P450 (KEGG: hsa00980)
• Chemical carcinogenesis (KEGG: hsa05204)
• Drug metabolism - cytochrome P450 (KEGG: hsa00982)
Protein Summary
GSTM1 is a 218-amino acid cytosolic protein (25.6 kDa) belonging to the mu class of glutathione S-transferases. It functions as a homodimer, catalyzing the conjugation of reduced glutathione to a variety of electrophilic substrates, including carcinogens, environmental toxins, and drugs. The enzyme plays a critical role in cellular detoxification and protection against oxidative stress. The common null polymorphism (GSTM1*0) leads to complete absence of protein, which has been linked to increased risk of several cancers and altered pharmacokinetics of certain chemotherapeutic agents.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GSTM1 Knockout HEK293 Cell Line | EDJ-KQ50320 | Human | 2944 | Details Get a Quote |
| GSTM1 Knockout HeLa Cell Line | EDJ-KQ53451 | Human | 2944 | Details Get a Quote |
| GSTM1 Knockout A-549 Cell Line | EDJ-KQ61925 | Human | 2944 | Details Get a Quote |
| GSTM1 Knockout HCT 116 Cell Line | EDJ-KQ70405 | Human | 2944 | Details Get a Quote |
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