CHMP7: Charged Multivesicular Body Protein 7
A key regulator of ESCRT-III complex assembly and nuclear envelope integrity
Gene Information Card
| Symbol | CHMP7 |
|---|---|
| Full Name | Charged Multivesicular Body Protein 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 91782 ncbi.nlm.nih.gov/gene/91782 |
| Ensembl ID | ENSG00000147454 |
| UniProt ID | Q8WUX9 |
| OMIM ID | 610531 |
| HGNC ID | 25537 |
| Aliases | C8orf60, HSPC107, SNF7-2 |
Description
CHMP7 encodes a component of the ESCRT-III (Endosomal Sorting Complexes Required for Transport III) complex, which is essential for multivesicular body biogenesis, cytokinesis, and nuclear envelope sealing. CHMP7 acts as a key initiator of ESCRT-III polymerization at the nuclear envelope, facilitating membrane remodeling and repair. It is also involved in autophagic pathways and cellular stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Amyotrophic Lateral Sclerosis (ALS) | CHMP7 mutations may impair nuclear envelope repair, leading to nuclear pore defects and neurodegeneration. | PMID: 32513696 |
| Frontotemporal Dementia (FTD) | Disrupted ESCRT-III function due to CHMP7 variants contributes to TDP-43 pathology. | PMID: 32513696 |
| Neurodegenerative disorders (general) | CHMP7 dysfunction causes nuclear envelope rupture and DNA damage, promoting neuronal death. | PMID: 32513696 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.8 | Medium |
| Lung | 8.2 | Low |
| Liver | 6.1 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 14.3 | High expression |
| HeLa | 11.7 | Moderate expression |
| SH-SY5Y | 9.8 | Neuronal model |
| HepG2 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg186Cys | Missense | <0.01% | Alters ESCRT-III binding affinity |
| p.Leu223Pro | Missense | <0.01% | Disrupts nuclear envelope localization |
| p.Gly60Ser | Missense | <0.01% | Reduced protein stability |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair CHMP7 polymerization or nuclear envelope targeting reduce ESCRT-III activity, leading to defective membrane repair.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg186Cys) may act dominant-negatively by interfering with wild-type CHMP7 assembly.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ESCRT-III complex assembly (Reactome: R-HSA-917729)
• Endosomal Sorting Complex Required for Transport (ESCRT) (KEGG: hsa04144)
• Nuclear envelope breakdown and reformation (Reactome: R-HSA-2980767)
Protein Summary
CHMP7 is a 453-amino-acid protein that belongs to the SNF7 family of ESCRT-III components. It contains a N-terminal basic region and a C-terminal acidic tail, which regulate its membrane binding and polymerization. CHMP7 localizes to the nuclear envelope and midbody, where it recruits downstream ESCRT-III subunits to execute membrane fission. Its activity is critical for nuclear integrity, cell division, and protein quality control.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHMP7 Knockout HEK293 Cell Line | EDJ-KQ10065 | Human | 91782 | Details Get a Quote |
| CHMP7 Knockout HCT 116 Cell Line | EDJ-KQ38409 | Human | 91782 | Details Get a Quote |
| CHMP7 Knockout HeLa Cell Line | EDJ-KQ38410 | Human | 91782 | Details Get a Quote |
| CHMP7 Knockout A-549 Cell Line | EDJ-KQ66308 | Human | 91782 | Details Get a Quote |
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