TXNL1 Gene: Thioredoxin-Like Protein 1 - Function, Expression, and Clinical Relevance
Comprehensive biomedical resource for TXNL1 (Thioredoxin-Like Protein 1), including genomic annotations, expression profiles, mutations, and functional pathways.
Gene Information Card
| Symbol | TXNL1 |
|---|---|
| Full Name | Thioredoxin-Like Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 18q21.2 |
| NCBI Gene ID | 9352 ncbi.nlm.nih.gov/gene/9352 |
| Ensembl ID | ENSG00000134333 |
| UniProt ID | O43396 |
| OMIM ID | 603049 |
| HGNC ID | 12437 |
| Aliases | TRP32, TXNL, TRX-related protein |
Description
TXNL1 encodes thioredoxin-like protein 1, a member of the thioredoxin family. It contains an N-terminal thioredoxin domain with a conserved CXXC motif and a C-terminal domain with similarity to nucleoside diphosphate kinases. TXNL1 is involved in redox regulation, protein folding, and cellular stress responses. It is widely expressed and may play roles in cancer and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may affect redox homeostasis and apoptosis; potential tumor suppressor or oncogene depending on context. | COSMIC: mutations and expression changes in multiple cancer types; PubMed studies. |
| Neurodegenerative disorders | Redox imbalance and protein misfolding; TXNL1 may modulate oxidative stress. | UniProt: involvement in cellular stress response; limited clinical evidence. |
| Infectious diseases | Interaction with viral proteins (e.g., HIV-1) via redox regulation. | UniProt: interaction with viral proteins; PubMed. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 15.2 | Medium |
| Kidney | 10.8 | Medium |
| Heart | 8.9 | Low |
| Testis | 20.3 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.4 | Cervical cancer cell line; high expression |
| A549 | 14.7 | Lung carcinoma; moderate expression |
| HepG2 | 16.2 | Liver cancer; moderate-high expression |
| MCF7 | 12.1 | Breast cancer; moderate expression |
| K562 | 9.8 | Leukemia; low-moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Ala41Val) | Missense | 0.01% (gnomAD) | Potential impact on redox activity; not clinically validated. |
| c.456_457insA (p.Leu153Thrfs*12) | Frameshift | Rare | Predicted loss of function; observed in COSMIC cancer samples. |
| c.789G>A (p.Val263Ile) | Missense | 0.05% (gnomAD) | Benign; no known effect. |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations may lead to truncated protein lacking functional domains, reducing redox activity.
Gain of Function (GOF)
No evidence for gain-of-function mutations; overexpression may contribute to cancer progression via redox modulation.
Dominant Negative (DN)
Not reported; no dominant-negative effects documented.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • glycerol ether metabolic process (GO:0006662) |
| • protein disulfide oxidoreductase activity (GO:0015035) | • antioxidant activity (GO:0016209) |
| • cell redox homeostasis (GO:0045454) | • cytoplasm (GO:0005737) |
| • nucleus (GO:0005634) |
Pathways
• Thioredoxin pathway
• Cellular response to oxidative stress
• Protein folding (disulfide bond formation)
Protein Summary
Thioredoxin-like protein 1 (TXNL1) is a 32 kDa protein with a thioredoxin domain and a nucleoside diphosphate kinase-like domain. It exhibits oxidoreductase activity, reducing disulfide bonds in target proteins. TXNL1 is involved in redox homeostasis, protecting cells from oxidative stress, and may interact with other proteins to regulate apoptosis and cell proliferation. Its expression is ubiquitous, with higher levels in testis and certain cancer cell lines. Mutations are rare and mostly benign, but some cancer-associated variants may affect function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TXNL1 Knockout HEK293 Cell Line | EDJ-KQ1999 | Human | 9352 | Details Get a Quote |
| TXNL1 Knockout A-549 Cell Line | EDJ-KQ22005 | Human | 9352 | Details Get a Quote |
| TXNL1 Knockout HCT 116 Cell Line | EDJ-KQ22006 | Human | 9352 | Details Get a Quote |
| TXNL1 Knockout HeLa Cell Line | EDJ-KQ22007 | Human | 9352 | Details Get a Quote |
