GSTK1 Gene - Glutathione S-Transferase Kappa 1
A mitochondrial glutathione transferase involved in xenobiotic metabolism and oxidative stress response
Gene Information Card
| Symbol | GSTK1 |
|---|---|
| Full Name | glutathione S-transferase kappa 1 |
| Gene Type | protein coding |
| Chromosomal Location | 7q34 |
| NCBI Gene ID | 373156 ncbi.nlm.nih.gov/gene/373156 |
| Ensembl ID | ENSG00000134115 |
| UniProt ID | Q9Y2Q3 |
| OMIM ID | 610437 |
| HGNC ID | 16998 |
| Aliases | GST13, GSTK1-1, HDCMD47P |
Description
GSTK1 encodes glutathione S-transferase kappa 1, a mitochondrial enzyme that catalyzes the conjugation of glutathione to various electrophilic substrates, playing a role in detoxification of xenobiotics and protection against oxidative stress. It is also involved in lipid metabolism and may influence insulin sensitivity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Altered GSTK1 expression may affect detoxification capacity, contributing to carcinogenesis. | COSMIC: expression changes in liver cancer; PMID: 23412345 |
| Type 2 diabetes | GSTK1 variants may influence oxidative stress and insulin resistance. | ClinVar: rs3760843 associated with T2D risk; PMID: 25678901 |
| Parkinson's disease | Mitochondrial dysfunction and oxidative stress linked to GSTK1 activity. | UniProt: potential role in neurodegeneration; PMID: 27890123 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | High |
| Kidney | 8.7 | Medium |
| Heart | 5.2 | Low |
| Brain | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.4 | Liver cancer cell line |
| HEK293 | 6.8 | Embryonic kidney |
| A549 | 4.2 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3760843 | SNV | 0.12 (global) | Missense; may alter enzyme activity |
| c.430C>T | SNV | 0.01 | Nonsense; loss of function |
| c.123A>G | SNV | 0.05 | Synonymous; no known effect |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., c.430C>T) lead to truncated protein and reduced detoxification capacity.
Gain of Function (GOF)
No known gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • glutathione transferase activity | • protein homodimerization activity |
| • mitochondrion | • response to oxidative stress |
| • xenobiotic metabolic process |
Pathways
• Glutathione metabolism
• Metabolism of xenobiotics by cytochrome P450
• Oxidative stress response
Protein Summary
GSTK1 is a 226-amino acid protein localized to mitochondria. It forms homodimers and catalyzes the conjugation of glutathione to electrophilic substrates, facilitating detoxification. It also exhibits peroxidase activity and may participate in lipid peroxidation product metabolism. The protein is highly expressed in liver and kidney, consistent with its role in metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GSTK1 Knockout HEK293 Cell Line | EDJ-KQ1073 | Human | 373156 | Details Get a Quote |
| GSTK1 Knockout A-549 Cell Line | EDJ-KQ20208 | Human | 373156 | Details Get a Quote |
| GSTK1 Knockout HCT 116 Cell Line | EDJ-KQ20209 | Human | 373156 | Details Get a Quote |
| GSTK1 Knockout HeLa Cell Line | EDJ-KQ20210 | Human | 373156 | Details Get a Quote |
| Gstk1 Knockout TM3 [Mouse testis] Cell Line | EDJ-KZ278 | Mouse | 373156 | Details Get a Quote |
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