TMED1: Transmembrane p24 Trafficking Protein 1
A key component of the p24 family involved in vesicular trafficking and protein quality control in the early secretory pathway.
Gene Information Card
| Symbol | TMED1 |
|---|---|
| Full Name | Transmembrane p24 trafficking protein 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.11 |
| NCBI Gene ID | 11018 ncbi.nlm.nih.gov/gene/11018 |
| Ensembl ID | ENSG00000104879 |
| UniProt ID | Q13445 |
| OMIM ID | 605082 |
| HGNC ID | 11869 |
| Aliases | p24a1, p24alpha1, TMP21, p24delta1 |
Description
TMED1 (Transmembrane p24 trafficking protein 1) encodes a member of the p24 family of transmembrane proteins localized to the endoplasmic reticulum (ER) and Golgi apparatus. It functions as a cargo receptor in COPII-coated vesicles, facilitating the selective transport of proteins from the ER to the Golgi. TMED1 is also involved in protein quality control and the unfolded protein response (UPR).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | TMED1 overexpression may promote tumor cell proliferation and migration through altered vesicular trafficking and signaling. | COSMIC; PMID: 25691885 |
| Colorectal cancer | Dysregulation of TMED1 expression correlates with poor prognosis and may affect Wnt/β-catenin signaling. | COSMIC; PMID: 29348694 |
| Alzheimer's disease | TMED1 interacts with presenilin-1 and may modulate γ-secretase activity, influencing amyloid-beta production. | UniProt; PMID: 15603737 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.5 | Medium |
| Brain | 8.3 | Low |
| Breast | 15.2 | Medium |
| Colon | 18.7 | Medium |
| Heart | 6.1 | Low |
| Kidney | 14.9 | Medium |
| Liver | 22.4 | High |
| Lung | 11.0 | Medium |
| Pancreas | 9.8 | Low |
| Placenta | 20.1 | High |
| Prostate | 13.3 | Medium |
| Skin | 10.5 | Medium |
| Small intestine | 25.6 | High |
| Spleen | 7.2 | Low |
| Stomach | 16.4 | Medium |
| Testis | 19.0 | Medium |
| Thyroid | 14.1 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical adenocarcinoma |
| HEK 293 | 22.3 | Embryonic kidney |
| HepG2 | 25.1 | Hepatocellular carcinoma |
| MCF7 | 16.8 | Breast cancer |
| A549 | 14.2 | Lung carcinoma |
| K562 | 9.7 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96His) | Missense | <0.1% | Unknown; reported in ClinVar as variant of uncertain significance |
| c.412C>T (p.Pro138Ser) | Missense | <0.1% | Unknown; reported in ClinVar as likely benign |
| c.1A>G (p.Met1Val) | Start loss | <0.1% | Predicted loss of function; no clinical significance established |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations have been reported in TMED1. Knockdown studies in cell lines suggest reduced cell proliferation and altered ER-Golgi transport.
Gain of Function (GOF)
Overexpression of TMED1 has been observed in several cancers, potentially contributing to oncogenic signaling, but no specific gain-of-function mutations are documented.
Dominant Negative (DN)
No dominant-negative mutations have been described for TMED1.
View complete mutation data：
Gene Ontology (GO)
| • ER to Golgi vesicle-mediated transport (GO:0006888) | • protein transport (GO:0015031) |
| • COPII-coated vesicle (GO:0030134) | • integral component of endoplasmic reticulum membrane (GO:0030176) |
| • Golgi-associated vesicle membrane (GO:0030660) | • protein heterodimerization activity (GO:0046982) |
| • protein localization to endoplasmic reticulum (GO:0070972) |
Pathways
• ER to Golgi anterograde transport (Reactome: R-HSA-199977)
• COPII-mediated vesicle transport (Reactome: R-HSA-204005)
• Unfolded Protein Response (UPR) (Reactome: R-HSA-381119)
Protein Summary
TMED1 is a 219-amino-acid transmembrane protein with a single membrane-spanning domain. It contains a GOLD (Golgi dynamics) domain in its luminal region, which mediates cargo recognition and interactions with other p24 family members. The protein cycles between the ER and Golgi, acting as a receptor for the export of specific secretory and membrane proteins. TMED1 also interacts with components of the γ-secretase complex, suggesting a role in Alzheimer's disease pathogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TMED1 Knockout HEK293 Cell Line | EDJ-KQ7247 | Human | 11018 | Details Get a Quote |
| TMED1 Knockout HeLa Cell Line | EDJ-KQ30859 | Human | 11018 | Details Get a Quote |
| TMED1 Knockout A-549 Cell Line | EDJ-KQ32239 | Human | 11018 | Details Get a Quote |
| TMED1 Knockout HCT 116 Cell Line | EDJ-KQ32240 | Human | 11018 | Details Get a Quote |
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