VMP1 (Vacuole Membrane Protein 1): Autophagy Regulator and Disease Implications
A comprehensive overview of VMP1 gene, its function, expression, and clinical significance.
Gene Information Card
| Symbol | VMP1 |
|---|---|
| Full Name | Vacuole Membrane Protein 1 |
| Gene Type | protein coding |
| Chromosomal Location | 17q23.1 |
| NCBI Gene ID | 81671 ncbi.nlm.nih.gov/gene/81671 |
| Ensembl ID | ENSG00000162772 |
| UniProt ID | Q96GC9 |
| OMIM ID | 611551 |
| HGNC ID | 20470 |
| Aliases | EPG3, TANGO5, TMEM49 |
Description
VMP1 (Vacuole Membrane Protein 1) is a protein-coding gene that encodes a transmembrane protein involved in autophagy, a cellular degradation process. It is essential for autophagosome formation and lipid metabolism. VMP1 is widely expressed in various tissues and has been implicated in several diseases, including pancreatitis, cancer, and neurodegenerative disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pancreatitis | VMP1 overexpression triggers autophagy in pancreatic acinar cells, contributing to disease onset. | PMID: 17932564 |
| Cancer (various) | VMP1 promotes autophagy and tumor cell survival under stress; expression correlates with poor prognosis in some cancers. | PMID: 23236384 |
| Crohn's disease | Genetic variants in VMP1 are associated with increased risk of inflammatory bowel disease. | PMID: 21102463 |
| Neurodegenerative disorders | VMP1-mediated autophagy dysfunction may contribute to protein aggregation in neurons. | PMID: 27334691 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Pancreas | 24.3 | Medium |
| Liver | 18.7 | Medium |
| Kidney | 15.2 | Medium |
| Brain | 12.8 | Low |
| Heart | 10.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 20.1 | Cervical cancer cell line |
| HepG2 | 18.5 | Liver cancer cell line |
| MCF7 | 15.3 | Breast cancer cell line |
| A549 | 14.8 | Lung cancer cell line |
| SH-SY5Y | 11.2 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs3745336 | SNV | 0.15 (global) | Intronic variant; associated with Crohn's disease risk. |
| rs12242110 | SNV | 0.08 (global) | Missense variant; potential impact on protein function. |
| c.1234A>G | Missense | Rare | Not characterized; predicted benign. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in VMP1 are not well documented; however, knockdown studies show impaired autophagy and embryonic lethality in mice.
Gain of Function (GOF)
Overexpression of VMP1 is observed in some cancers and pancreatitis, suggesting a potential gain-of-function effect promoting autophagy.
Dominant Negative (DN)
No dominant-negative mutations have been reported for VMP1.
View complete mutation data：
Gene Ontology (GO)
| • autophagy | • autophagosome assembly |
| • lipid binding | • membrane |
| • integral component of membrane | • cytoplasmic vesicle |
Pathways
• Autophagy - animal
• Mitophagy
• Selective autophagy
Protein Summary
The VMP1 protein is a multi-spanning transmembrane protein localized to the endoplasmic reticulum, mitochondria, and autophagosomal membranes. It plays a critical role in autophagosome formation by interacting with Beclin-1 and regulating phosphatidylinositol 3-phosphate production. VMP1 also participates in lipid droplet homeostasis and ER-phagy. Its expression is induced by stress conditions such as starvation and hypoxia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| VMP1 Knockout HCT 116 Cell Line | EDC90262 | Human | 81671 | Details Get a Quote |
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