CHMP5: Charged Multivesicular Body Protein 5
A key component of the ESCRT-III complex involved in endosomal sorting, cytokinesis, and autophagy.
Gene Information Card
| Symbol | CHMP5 |
|---|---|
| Full Name | Charged Multivesicular Body Protein 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 51510 ncbi.nlm.nih.gov/gene/51510 |
| Ensembl ID | ENSG00000186065 |
| UniProt ID | Q9NZZ3 |
| OMIM ID | 610901 |
| HGNC ID | 26935 |
| Aliases | SNF7DC2, Vps60, CGI-34 |
Description
CHMP5 (Charged Multivesicular Body Protein 5) encodes a component of the ESCRT-III (Endosomal Sorting Complexes Required for Transport III) complex. It is involved in the sorting of ubiquitinated membrane proteins into intraluminal vesicles of multivesicular bodies, leading to lysosomal degradation. CHMP5 also plays roles in cytokinesis, autophagy, and nuclear envelope reformation. The protein localizes to the midbody during cell division and is essential for proper abscission.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Dysregulation of ESCRT-III function may alter receptor trafficking and signaling, promoting tumorigenesis. | COSMIC; PubMed studies |
| Neurodegenerative disorders | Impaired autophagy and endosomal trafficking due to CHMP5 dysfunction may contribute to protein aggregation. | PubMed; NCBI Gene Reviews |
| Developmental disorders | Mutations affecting ESCRT-III components can disrupt cytokinesis and nuclear envelope dynamics, potentially leading to developmental abnormalities. | OMIM; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.2 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.8 | Low |
| Testis | 15.3 | Medium |
| Spleen | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | High expression |
| HEK293 | 11.5 | Moderate expression |
| K562 | 9.1 | Low expression |
| A549 | 8.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon, predicted loss of function |
| c.214C>T (p.Arg72Trp) | Missense | <0.01% | Unknown significance; may affect protein stability |
| c.340G>A (p.Glu114Lys) | Missense | <0.01% | Unknown significance; located in conserved region |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in CHMP5 are predicted to impair ESCRT-III function, leading to defects in endosomal sorting and cytokinesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for CHMP5.
Dominant Negative (DN)
Dominant-negative effects are possible if mutant CHMP5 interferes with ESCRT-III complex assembly, but specific examples are not well documented.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ESCRT-III complex pathway
• Endosomal sorting pathway
• Cytokinesis pathway
• Autophagy pathway
Protein Summary
CHMP5 is a 219-amino-acid protein (UniProt Q9NZZ3) that belongs to the SNF7 family of ESCRT-III components. It contains a coiled-coil domain and is involved in membrane remodeling events. The protein interacts with other ESCRT-III subunits (e.g., CHMP4, CHMP6) and with VPS4 ATPase to facilitate membrane scission. CHMP5 is essential for the final steps of cytokinesis and for the formation of intraluminal vesicles in multivesicular bodies.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHMP5 Knockout HEK293 Cell Line | EDJ-KQ11122 | Human | 51510 | Details Get a Quote |
| CHMP5 Knockout HCT 116 Cell Line | EDJ-KQ39102 | Human | 51510 | Details Get a Quote |
| CHMP5 Knockout HeLa Cell Line | EDJ-KQ39103 | Human | 51510 | Details Get a Quote |
| CHMP5 Knockout A-549 Cell Line | EDJ-KQ64809 | Human | 51510 | Details Get a Quote |
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