TXNRD1: Thioredoxin Reductase 1
A key antioxidant enzyme in redox regulation and cancer biology
Gene Information Card
| Symbol | TXNRD1 |
|---|---|
| Full Name | Thioredoxin Reductase 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q23.3 |
| NCBI Gene ID | 7296 ncbi.nlm.nih.gov/gene/7296 |
| Ensembl ID | ENSG00000198431 |
| UniProt ID | Q16881 |
| OMIM ID | 601112 |
| HGNC ID | 12437 |
| Aliases | TR1, TRXR1, GRIM-12, TXNR |
Description
TXNRD1 encodes thioredoxin reductase 1, a selenoprotein that reduces thioredoxin and plays a central role in cellular redox homeostasis, antioxidant defense, and regulation of cell proliferation. It is frequently overexpressed in cancers and is a target for anticancer drug development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Overexpression of TXNRD1 supports tumor growth by reducing oxidative stress and promoting resistance to apoptosis. | PMID: 25944712; COSMIC |
| Selenium deficiency-related disorders | Reduced TXNRD1 activity due to selenium deficiency impairs antioxidant capacity. | PMID: 20085714 |
| Cardiovascular disease | Dysregulated TXNRD1 contributes to oxidative stress in atherosclerosis. | PMID: 22982236 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 10.2 | High |
| Lung | 8.1 | Medium |
| Heart | 6.3 | Medium |
| Brain | 4.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 12.8 | High expression |
| A549 | 10.5 | Medium expression |
| MCF7 | 9.1 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.742C>T (p.Arg248Trp) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.1030G>A (p.Gly344Ser) | Missense | <0.01% | Likely benign |
| c.1465C>T (p.Arg489Cys) | Missense | <0.01% | Uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Rare missense variants may reduce catalytic activity, impairing thioredoxin reduction.
Gain of Function (GOF)
Not well documented; overexpression in tumors suggests possible gain-of-function via increased expression.
Dominant Negative (DN)
No known dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • thioredoxin-disulfide reductase activity | • selenium binding |
| • NADPH binding | • response to oxidative stress |
| • cell redox homeostasis |
Pathways
• Thioredoxin pathway
• Selenoamino acid metabolism
• Cellular response to oxidative stress
Protein Summary
Thioredoxin reductase 1 is a homodimeric selenoprotein that uses NADPH to reduce oxidized thioredoxin. It is essential for maintaining the reduced state of intracellular proteins, regulating transcription factors, and protecting cells from oxidative damage. The protein contains a selenocysteine residue at the active site, critical for its catalytic function.
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