TMX1: Thioredoxin-Related Transmembrane Protein 1
A key oxidoreductase in the endoplasmic reticulum, involved in protein folding and redox homeostasis.
Gene Information Card
| Symbol | TMX1 |
|---|---|
| Full Name | Thioredoxin-Related Transmembrane Protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q22.1 |
| NCBI Gene ID | 81542 ncbi.nlm.nih.gov/gene/81542 |
| Ensembl ID | ENSG00000100804 |
| UniProt ID | Q9H3N1 |
| OMIM ID | 610527 |
| HGNC ID | 16966 |
| Aliases | PDIA11, TMX, TXNDC, TXNDC1 |
Description
TMX1 (Thioredoxin-Related Transmembrane Protein 1) is a protein-coding gene located on chromosome 14q22.1. It encodes a transmembrane oxidoreductase of the endoplasmic reticulum (ER) belonging to the protein disulfide isomerase (PDI) family. TMX1 contains a thioredoxin-like domain and is involved in the formation, reduction, and isomerization of disulfide bonds during protein folding, contributing to ER redox homeostasis. It is widely expressed in various tissues and plays roles in cellular stress responses and protein quality control.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered TMX1 expression may affect ER stress and protein folding, influencing tumor progression. | Limited evidence from expression studies and cancer genomics databases (e.g., COSMIC). |
| Endoplasmic Reticulum Stress-Related Disorders | TMX1 dysfunction can disrupt redox balance, contributing to ER stress and associated pathologies. | Inferred from functional studies and gene ontology. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 10.2 | Medium |
| Heart | 8.9 | Medium |
| Brain | 6.3 | Low |
| Lung | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression in embryonic kidney cells |
| HeLa | 11.8 | Moderate expression in cervical cancer cells |
| HepG2 | 14.0 | High expression in liver cancer cells |
| A549 | 9.5 | Moderate expression in lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | Rare | Unknown functional impact; reported in population databases. |
| c.487G>A (p.Gly163Ser) | Missense | Rare | Unknown functional impact; reported in population databases. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Endoplasmic reticulum protein processing (Reactome: R-HSA-9014519)
• Protein folding (Reactome: R-HSA-392499)
Protein Summary
TMX1 is a 280-amino acid transmembrane protein localized to the endoplasmic reticulum membrane. It contains a single thioredoxin-like domain with a CXXC active site motif that mediates thiol-disulfide exchange. TMX1 functions as an oxidoreductase, catalyzing the formation and rearrangement of disulfide bonds in nascent proteins. It interacts with other ER chaperones and oxidoreductases, contributing to protein quality control and redox balance. TMX1 is expressed in multiple tissues and cell lines, with highest levels in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMX1 Knockout HEK293 Cell Line | EDJ-KQ9703 | Human | 81542 | Details Get a Quote |
| TMX1 Knockout A-549 Cell Line | EDJ-KQ36477 | Human | 81542 | Details Get a Quote |
| TMX1 Knockout HCT 116 Cell Line | EDJ-KQ36478 | Human | 81542 | Details Get a Quote |
| TMX1 Knockout HeLa Cell Line | EDJ-KQ36479 | Human | 81542 | Details Get a Quote |
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