GSTT1 Gene - Glutathione S-Transferase Theta 1
Genetic Variant, Detoxification, and Disease Susceptibility
Gene Information Card
| Symbol | GSTT1 |
|---|---|
| Full Name | Glutathione S-Transferase Theta 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q11.23 |
| NCBI Gene ID | 2952 ncbi.nlm.nih.gov/gene/2952 |
| Ensembl ID | ENSG00000168765 |
| UniProt ID | P30711 |
| OMIM ID | 600436 |
| HGNC ID | 4641 |
| Aliases | GSTT1-1, GSTT1*0, GSTT1*A, GSTT1*B |
Description
The GSTT1 gene encodes a member of the glutathione S-transferase (GST) superfamily, specifically the theta class. These enzymes catalyze the conjugation of reduced glutathione to a wide variety of electrophilic compounds, including carcinogens, therapeutic drugs, and environmental toxins. GSTT1 is highly polymorphic; a common homozygous deletion (null genotype) results in complete loss of enzyme activity and is associated with altered susceptibility to various cancers and adverse drug reactions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bladder Cancer | Null genotype reduces detoxification of carcinogens, increasing risk | Meta-analysis in multiple populations; ClinVar association |
| Asthma | GSTT1 null genotype linked to increased oxidative stress and airway inflammation | Case-control studies; OMIM #600436 |
| Chemotherapy Toxicity | Null genotype impairs clearance of chemotherapeutic agents (e.g., busulfan, cyclophosphamide) | Pharmacogenetic studies; ClinVar |
| Colorectal Cancer | Loss of GSTT1 activity may increase DNA damage from dietary carcinogens | Epidemiological studies; COSMIC |
| Acute Myeloid Leukemia | GSTT1 deletion associated with higher risk, especially in combination with GSTM1 null | Case-control studies; NCBI GeneRIF |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Lung | 6.1 | Low |
| Small Intestine | 15.2 | Medium |
| Colon | 9.7 | Medium |
| Breast | 4.5 | Low |
| Prostate | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 14.1 | Hepatocellular carcinoma cell line |
| A549 | 7.2 | Lung adenocarcinoma cell line |
| MCF7 | 5.0 | Breast cancer cell line |
| HT-29 | 10.3 | Colorectal adenocarcinoma cell line |
| K562 | 2.1 | Chronic myeloid leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| GSTT1*0 (deletion) | Copy number loss (homozygous null) | ~20-50% of populations (varies by ethnicity) | Complete loss of enzyme activity |
| GSTT1*A (rs17856199) | Missense (Ile105Val) | <1% | Reduced catalytic activity |
| GSTT1*B (rs2234953) | Missense (Ala114Val) | <1% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
Homozygous deletion (GSTT1*0) results in complete absence of protein and enzyme activity, impairing detoxification of electrophilic compounds.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Glutathione metabolism (KEGG: hsa00480)
• Metabolism of xenobiotics by cytochrome P450 (KEGG: hsa00980)
• Drug metabolism - cytochrome P450 (KEGG: hsa00982)
• Chemical carcinogenesis (KEGG: hsa05204)
Protein Summary
GSTT1 is a 240-amino acid cytosolic enzyme (27.3 kDa) that forms homodimers. It catalyzes the conjugation of glutathione to a broad range of electrophilic substrates, including halogenated hydrocarbons, epoxides, and arene oxides. The enzyme is expressed primarily in liver, kidney, and gastrointestinal tract, playing a critical role in detoxification of environmental carcinogens and drugs. The common null allele (GSTT1*0) leads to complete loss of activity and is a well-studied genetic risk factor for various cancers and drug toxicities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GSTT1 Knockout HEK293 Cell Line | EDJ-KQ4815 | Human | 2952 | Details Get a Quote |
| GSTT1 Knockout A-549 Cell Line | EDJ-KQ27589 | Human | 2952 | Details Get a Quote |
| GSTT1 Knockout HCT 116 Cell Line | EDJ-KQ27590 | Human | 2952 | Details Get a Quote |
| GSTT1 Knockout HeLa Cell Line | EDJ-KQ27591 | Human | 2952 | Details Get a Quote |
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