CHMP1A: Charged Multivesicular Body Protein 1A
A key regulator of ESCRT-III complex assembly, cytokinesis, and neuronal development; mutations linked to pontocerebellar hypoplasia type 8 and potential roles in cancer.
Gene Information Card
| Symbol | CHMP1A |
|---|---|
| Full Name | Charged Multivesicular Body Protein 1A |
| Gene Type | Protein coding |
| Chromosomal Location | 16q24.3 |
| NCBI Gene ID | 5119 ncbi.nlm.nih.gov/gene/5119 |
| Ensembl ID | ENSG00000131165 |
| UniProt ID | Q9HD42 |
| OMIM ID | 164010 |
| HGNC ID | 1939 |
| Aliases | CHMP1, PCH8, VPS46-1, VPS46A |
Description
CHMP1A encodes a component of the ESCRT-III (Endosomal Sorting Complexes Required for Transport III) complex, which is essential for multivesicular body biogenesis, cytokinesis, and neuronal development. The protein localizes to the midbody during cell division and is required for abscission. Mutations in CHMP1A cause pontocerebellar hypoplasia type 8 (PCH8), a severe neurodevelopmental disorder. CHMP1A also functions in the nucleus to regulate chromatin remodeling and gene expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pontocerebellar Hypoplasia Type 8 (PCH8) | Loss-of-function mutations impair ESCRT-III function, leading to defective cytokinesis and neuronal cell death, resulting in cerebellar and pontine atrophy. | ClinVar, OMIM |
| Microcephaly | Disrupted neuronal proliferation and survival due to impaired abscission during neurogenesis. | ClinVar, OMIM |
| Cancer (potential) | Altered CHMP1A expression may affect cytokinesis and endosomal trafficking, contributing to tumorigenesis. | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 8.1 | Low |
| Liver | 6.3 | Low |
| Kidney | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.3 | High expression; used in functional studies |
| HEK293 | 11.8 | Moderate expression |
| SH-SY5Y | 14.1 | High expression; neuronal model |
| U2OS | 9.6 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.226C>T (p.Arg76*) | Nonsense | Rare | Loss of function; truncation of protein, associated with PCH8 |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function; no translation initiation, associated with PCH8 |
| c.148C>T (p.Arg50Trp) | Missense | Rare | Likely loss of function; disrupts ESCRT-III binding, reported in PCH8 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and start-loss mutations lead to truncated or absent protein, impairing ESCRT-III function and cytokinesis, causing PCH8.
Gain of Function (GOF)
Not reported for CHMP1A.
Dominant Negative (DN)
Not reported; CHMP1A mutations are typically recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• ESCRT-III complex (Reactome: R-HSA-917729)
• Cytokinesis (Reactome: R-HSA-2467813)
• Endosomal Sorting Complex Required for Transport (ESCRT) (KEGG: hsa04144)
Protein Summary
CHMP1A is a 196-amino-acid protein that forms part of the ESCRT-III complex. It contains a coiled-coil domain and a C-terminal basic region that mediates membrane binding and interaction with other ESCRT components. The protein is essential for membrane fission events during multivesicular body formation, cytokinesis, and viral budding. In the nucleus, CHMP1A interacts with chromatin remodeling complexes to regulate gene expression. Mutations cause pontocerebellar hypoplasia type 8.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CHMP1A Knockout HEK293 Cell Line | EDJ-KQ5420 | Human | 5119 | Details Get a Quote |
| CHMP1A Knockout A-549 Cell Line | EDJ-KQ28586 | Human | 5119 | Details Get a Quote |
| CHMP1A Knockout HCT 116 Cell Line | EDJ-KQ28587 | Human | 5119 | Details Get a Quote |
| CHMP1A Knockout HeLa Cell Line | EDJ-KQ28588 | Human | 5119 | Details Get a Quote |
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