CHMP1B
Charged Multivesicular Body Protein 1B
Gene Information Card
| Symbol | CHMP1B |
|---|---|
| Full Name | Charged Multivesicular Body Protein 1B |
| Gene Type | Protein coding |
| Chromosomal Location | 18p11.21 |
| NCBI Gene ID | 57132 ncbi.nlm.nih.gov/gene/57132 |
| Ensembl ID | ENSG00000134371 |
| UniProt ID | Q7LBR1 |
| OMIM ID | 606486 |
| HGNC ID | 24523 |
| Aliases | C18orf2, CHMP1.5, VPS46B |
Description
CHMP1B encodes a component of the ESCRT-III (Endosomal Sorting Complex Required for Transport III) complex, which is essential for multivesicular body (MVB) biogenesis, cytokinesis, and autophagic clearance. The protein localizes to the midbody during cell division and is involved in membrane scission events. Mutations in CHMP1B have been linked to neurodegenerative disorders and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pontocerebellar hypoplasia type 1B | Loss-of-function mutations impair ESCRT-III function, leading to defective autophagy and neuronal cell death | OMIM #614678 |
| Amyotrophic lateral sclerosis (ALS) | Disrupted endosomal trafficking and protein aggregation due to CHMP1B dysfunction | ClinVar |
| Frontotemporal dementia | Impaired autophagic clearance of TDP-43 aggregates | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Lung | 6.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| HeLa (cervical carcinoma) | 10.8 | Moderate expression |
| HEK293 (embryonic kidney) | 9.5 | Moderate expression |
| A549 (lung carcinoma) | 7.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76Trp) | Missense | Rare | Impaired ESCRT-III assembly and autophagic flux |
| c.334G>A (p.Gly112Arg) | Missense | Rare | Reduced protein stability and midbody localization |
| c.1A>G (p.Met1Val) | Start loss | Very rare | Complete loss of protein expression |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that reduce protein stability or disrupt ESCRT-III complex formation lead to loss of function.
Gain of Function (GOF)
No evidence of gain-of-function mutations in CHMP1B.
Dominant Negative (DN)
Some missense variants may exert dominant-negative effects by incorporating into ESCRT-III filaments and impairing normal complex dynamics.
View complete mutation data：
Gene Ontology (GO)
| • ESCRT III complex | • protein transport |
| • multivesicular body assembly | • cytokinesis |
| • autophagy | • membrane fission |
Pathways
• ESCRT-III pathway
• Endosomal sorting
• Autophagy-lysosome pathway
Protein Summary
CHMP1B is a 196-amino-acid protein (UniProt Q7LBR1) that forms part of the ESCRT-III complex. It contains a coiled-coil domain and a C-terminal basic region that mediates membrane binding. The protein is ubiquitously expressed but enriched in brain and testis. It plays a critical role in membrane remodeling during cytokinesis and autophagic clearance of protein aggregates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHMP1B Knockout HEK293 Cell Line | EDJ-KQ12160 | Human | 57132 | Details Get a Quote |
| CHMP1B Knockout A-549 Cell Line | EDJ-KQ42109 | Human | 57132 | Details Get a Quote |
| CHMP1B Knockout HCT 116 Cell Line | EDJ-KQ42110 | Human | 57132 | Details Get a Quote |
| CHMP1B Knockout HeLa Cell Line | EDJ-KQ42111 | Human | 57132 | Details Get a Quote |
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