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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TMED1
transmembrane p24 trafficking protein 1
Chromosome 19 · 19p13.2
NCBI Gene: 11018Ensembl: ENSG00000099203.8HGNC: HGNC:17291UniProt: Q13445
48PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
endoplasmic reticulum-Golgi intermediate compartmentGolgi apparatusprotein bindingendoplasmic reticulummyocardial infarctionBlindnessneoplasmgastric cancer
✦AI Summary

TMED1 (transmembrane p24 trafficking protein 1) is a sorting receptor functioning in the early secretory pathway, particularly in bidirectional ER-Golgi transport 1. The protein contains a GOLD domain that mediates homodimer formation in a salt-dependent manner 1, facilitating its role as a cargo receptor for incorporation of secretory molecules into COPII-coated transport vesicles. Beyond vesicular trafficking, TMED1 participates in innate immune signaling through two distinct mechanisms: it associates with the IL-33 receptor (ST2L) via its GOLD domain to enhance IL-33-mediated IL-8 and IL-6 production 2, and modulates the cGAS-STING pathway through RNF26 interaction. TMED1 has emerged as clinically relevant in multiple disease contexts. In head and neck squamous carcinoma, TMED1 expression is significantly elevated and associated with poor prognosis 3. In autism spectrum disorder, TMED1 is identified as a gene closely related to ZIC family members implicated in cerebellar pathogenesis and demonstrates good diagnostic accuracy for ASD prediction 4. The TMED family more broadly shows involvement in diverse malignancies, immune dysfunction, and neurodegenerative diseases 5. These findings position TMED1 as a promising therapeutic target and prognostic biomarker.

Sources cited
1
TMED1 GOLD domain structure, homodimer formation in solution, and role in ER-Golgi bidirectional transport
PMID: 34634369
2
TMED1 associates with IL-33 receptor ST2L via GOLD-TIR domain interaction and is required for IL-33-induced IL-8 and IL-6 production
PMID: 23319592
3
TMED1 mRNA and protein expression significantly increased in head and neck squamous carcinoma with prognostic implications
PMID: 35754792
4
TMED1 is closely related to ZIC genes in autism spectrum disorder cerebellum and has good diagnostic accuracy for ASD prediction
PMID: 38410689
5
TMED family members, including TMED1, involved in malignancies, immune responses, diabetes, neurodegenerative diseases, and other human diseases
PMID: 37928880
Disease Associationsⓘ20
myocardial infarctionOpen Targets
0.26Weak
BlindnessOpen Targets
0.19Weak
neoplasmOpen Targets
0.11Weak
gastric cancerOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.06Suggestive
lung cancerOpen Targets
0.05Suggestive
infectionOpen Targets
0.05Suggestive
cancerOpen Targets
0.04Suggestive
colorectal cancerOpen Targets
0.02Suggestive
coronary artery diseaseOpen Targets
0.02Suggestive
systemic lupus erythematosusOpen Targets
0.02Suggestive
psoriasisOpen Targets
0.02Suggestive
osteoarthritis, kneeOpen Targets
0.02Suggestive
asthmaOpen Targets
0.02Suggestive
dilated cardiomyopathyOpen Targets
0.02Suggestive
granular corneal dystrophy type IIOpen Targets
0.01Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.01Suggestive
readingOpen Targets
0.01Suggestive
rheumatoid arthritisOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TMED10Protein interaction93%IL1RL1Protein interaction86%TMED9Protein interaction77%TMED6Shared pathway75%TMED7Shared pathway75%TMED3Shared pathway75%
Tissue Expression6 tissues
Heart
100%
Liver
99%
Ovary
80%
Brain
72%
Lung
62%
Bone Marrow
30%
Gene Interaction Network
Click a node to explore
TMED1TMED10IL1RL1TMED9TMED6TMED7TMED3
PROTEIN STRUCTURE
Preparing viewer…
PDB7RRM · 1.72 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.44LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.99 [0.69–1.44]
RankingsWhere TMED1 stands among ~20K protein-coding genes
  • #9,146of 20,598
    Most Researched48
  • #14,748of 17,882
    Most Constrained (LOEUF)1.44
Genes detectedTMED1
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Structural and thermodynamic analyses of human TMED1 (p24γ1) Golgi dynamics.
PMID: 34634369
Biochimie · 2022
1.00
2
TMED family genes and their roles in human diseases.
PMID: 37928880
Int J Med Sci · 2023
0.83
3
Identification and Analysis of ZIC-Related Genes in Cerebellum of Autism Spectrum Disorders.
PMID: 38410689
Neuropsychiatr Dis Treat · 2024
0.67
4
The GOLD domain-containing protein TMED1 is involved in interleukin-33 signaling.
PMID: 23319592
J Biol Chem · 2013
0.50
5
Downregulation of Three Novel miRNAs in the Lymph Nodes of Sheep Immunized With the
PMID: 35274021
Front Vet Sci · 2022
0.33