CHMP3: Charged Multivesicular Body Protein 3
A key component of the ESCRT-III complex involved in endosomal sorting, cytokinesis, and viral budding.
Gene Information Card
| Symbol | CHMP3 |
|---|---|
| Full Name | Charged Multivesicular Body Protein 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 2p11.2 |
| NCBI Gene ID | 51652 ncbi.nlm.nih.gov/gene/51652 |
| Ensembl ID | ENSG00000115561 |
| UniProt ID | Q9Y3E7 |
| OMIM ID | 610052 |
| HGNC ID | 29890 |
| Aliases | NEDF, VPS24, CGI-149, hVps24 |
Description
CHMP3 (Charged Multivesicular Body Protein 3) encodes a core component of the ESCRT-III complex, which is essential for multivesicular body (MVB) biogenesis, endosomal sorting of ubiquitinated membrane proteins, cytokinesis, and enveloped virus budding. The protein localizes to endosomal membranes and mediates membrane fission and scission events. CHMP3 is ubiquitously expressed and its dysfunction is implicated in cancer progression and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered CHMP3 expression disrupts endosomal trafficking and cytokinesis, promoting genomic instability and tumorigenesis. | NCBI Gene, COSMIC |
| Neurodegenerative disorders (e.g., Alzheimer's disease) | Impaired ESCRT-III function leads to accumulation of protein aggregates and defective autophagy. | NCBI Gene, ClinVar |
| Viral infections (e.g., HIV-1) | CHMP3 is hijacked by enveloped viruses for budding; mutations can affect viral release. | UniProt, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 10.2 | Medium |
| Liver | 8.9 | Low |
| Kidney | 11.3 | Medium |
| Testis | 15.1 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.0 | Cervical cancer cell line |
| HEK293 | 12.5 | Embryonic kidney cell line |
| A549 | 11.8 | Lung cancer cell line |
| K562 | 9.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare | Potential loss of start codon; reduced protein expression |
| c.214G>A (p.Ala72Thr) | Missense | <0.01% | Unknown functional impact; reported in ClinVar |
| c.346C>T (p.Arg116Trp) | Missense | <0.01% | May affect ESCRT-III assembly; associated with cancer in COSMIC |
Mutation functional classification
Loss of Function (LOF)
Mutations that impair CHMP3 expression or disrupt ESCRT-III complex formation, leading to defective endosomal sorting and cytokinesis.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Mutations that produce a truncated or misfolded protein that interferes with wild-type CHMP3 function, potentially disrupting membrane scission.
View complete mutation data：
Gene Ontology (GO)
| • endosome (GO:0005768) | • late endosome (GO:0005770) |
| • protein transport (GO:0015031) | • multivesicular body assembly (GO:0036257) |
| • late endosome to vacuole transport (GO:0045324) | • selective autophagy (GO:0061912) |
Pathways
• ESCRT-III complex pathway (Reactome: R-HSA-917729)
• Endosomal sorting complex required for transport (ESCRT) (KEGG: hsa04144)
• Cytokinesis (Reactome: R-HSA-2467813)
Protein Summary
CHMP3 is a 222-amino-acid protein that forms part of the ESCRT-III core complex. It contains a coiled-coil domain and a C-terminal basic region that mediates membrane binding. The protein undergoes conformational changes to drive membrane fission during MVB formation, cytokinesis, and viral budding. CHMP3 interacts with other ESCRT-III subunits (e.g., CHMP4, CHMP2) and with VPS4 to facilitate complex disassembly.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| RNF103-CHMP3 Knockout HEK293 Cell Line | EDJ-KQ52473 | Human | 100526767 | Details Get a Quote |
| RNF103-CHMP3 Knockout HeLa Cell Line | EDJ-KQ60936 | Human | 100526767 | Details Get a Quote |
| RNF103-CHMP3 Knockout A-549 Cell Line | EDJ-KQ69411 | Human | 100526767 | Details Get a Quote |
| RNF103-CHMP3 Knockout HCT 116 Cell Line | EDJ-KQ77762 | Human | 100526767 | Details Get a Quote |
