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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TMX1
thioredoxin related transmembrane protein 1
Chromosome 14 · 14q22.1
NCBI Gene: 81542Ensembl: ENSG00000139921.14HGNC: HGNC:15487UniProt: Q9H3N1
125PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein disulfide isomerase activityenzyme inhibitor activityprotein bindingprotein-disulfide reductase activityadolescent idiopathic scoliosisAlkalosiscutaneous lupus erythematosuscleft lip
✦AI Summary

TMX1 (thioredoxin related transmembrane protein 1) is a membrane-bound protein disulfide isomerase located in the endoplasmic reticulum that catalyzes dithiol-disulfide exchange reactions and formation/reduction of disulfide bonds in transmembrane proteins 1. As a key regulatory protein, TMX1 acts as a critical inhibitor of alternative triglyceride biosynthesis by binding to and controlling TMEM68/DIESL at the ER, thereby restricting triacylglycerol accumulation from diacylglycerol and membrane phospholipids 1. TMX1 participates in ER-associated degradation (ERAD) by acting on misfolded proteins and regulates ER-mitochondria contact sites and calcium flux 2. The protein functions as a negative regulator of platelet aggregation and coagulation, inhibiting phosphatidylserine exposure on both platelets and endothelial cells 3. In cancer contexts, TMX1 demonstrates tumor-suppressive properties in hepatocellular carcinoma by stabilizing FABP5 and inhibiting ferroptosis, while its downregulation correlates with poor prognosis in gastric cancer through DNA hypermethylation 45. TMX1 also influences immune cell infiltration and may serve as a therapeutic target in lung adenocarcinoma 6.

Sources cited
1
TMX1 catalyzes dithiol-disulfide exchange reactions and inhibits alternative triglyceride biosynthesis by controlling TMEM68/DIESL
PMID: 37648867
2
TMX1 is a membrane-bound PDI family member involved in ERAD and ER-mitochondria regulation
PMID: 32878123
3
TMX1 negatively regulates platelet aggregation, coagulation, and phosphatidylserine exposure
PMID: 39036672
4
TMX1 promotes HCC progression by stabilizing FABP5 and inhibiting ferroptosis
PMID: 41482143
5
TMX1 downregulation through DNA hypermethylation correlates with poor gastric cancer prognosis
PMID: 40616607
6
TMX1 influences immune cell infiltration and serves as potential therapeutic target in lung adenocarcinoma
PMID: 39805394
Disease Associationsⓘ20
adolescent idiopathic scoliosisOpen Targets
0.24Weak
AlkalosisOpen Targets
0.18Weak
cutaneous lupus erythematosusOpen Targets
0.17Weak
cleft lipOpen Targets
0.16Weak
cleft palateOpen Targets
0.13Weak
hyperparathyroidismOpen Targets
0.11Weak
pituitary gland diseaseOpen Targets
0.11Weak
cancerOpen Targets
0.09Suggestive
complicationOpen Targets
0.08Suggestive
medical procedureOpen Targets
0.08Suggestive
trauma complicationOpen Targets
0.08Suggestive
melanomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
experimental autoimmune encephalomyelitisOpen Targets
0.05Suggestive
gliomaOpen Targets
0.04Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
adverse effectOpen Targets
0.02Suggestive
muscle crampOpen Targets
0.02Suggestive
facial painOpen Targets
0.02Suggestive
posterior cortical atrophyOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CANXProtein interaction87%TMX2Protein interaction87%TXNProtein interaction86%TMEM259Shared pathway50%TTC23LShared pathway25%RNFT2Shared pathway25%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
76%
Liver
61%
Lung
54%
Heart
42%
Ovary
41%
Gene Interaction Network
Click a node to explore
TMX1CANXTMX2TXNTMEM259TTC23LRNFT2
PROTEIN STRUCTURE
Preparing viewer…
PDB1X5E · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.01LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.54–1.01]
RankingsWhere TMX1 stands among ~20K protein-coding genes
  • #3,776of 20,598
    Most Researched125 · top quartile
  • #9,825of 17,882
    Most Constrained (LOEUF)1.01
Genes detectedTMX1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of an alternative triglyceride biosynthesis pathway.
PMID: 37648867
Nature · 2023
1.00
2
Thioredoxin-Related Transmembrane Proteins: TMX1 and Little Brothers TMX2, TMX3, TMX4 and TMX5.
PMID: 32878123
Cells · 2020
0.90
3
ATP2A2 regulates STING1/MITA-driven signal transduction including selective autophagy.
PMID: 40265346
Autophagy · 2025
0.80
4
GIMAP1 interacts with TMX1 to improve lung adenocarcinoma prognosis by influencing tumor immune microenvironment.
PMID: 39805394
Biochim Biophys Acta Mol Basis Dis · 2025
0.70
5
Exploiting potential molecular compounds for treating testicular seminoma by targeting immune related genes.
PMID: 39574183
Cell Commun Signal · 2024
0.60