Gene
chmp1a
- ID
- ZDB-GENE-040426-1474
- Name
- charged multivesicular body protein 1A
- Symbol
- chmp1a Nomenclature History
- Previous Names
-
- pcoln3
- wu:fb50a12
- zgc:65914
- zgc:85863
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Involved in cerebellum development. Predicted to localize to ESCRT III complex and multivesicular body. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 8. Orthologous to human CHMP1A (charged multivesicular body protein 1A).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Mochida et al., 2012
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Mochida et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| pontocerebellar hypoplasia type 8 | Alliance | Pontocerebellar hypoplasia, type 8 | 614961 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR005024 | Snf7 family |
Domain Details Per Protein
| Protein | Length | Snf7 family |
|---|---|---|
|
UniProtKB:Q6PHF0
|
198 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
chmp1a-201
(1)
|
Ensembl | 597 nt | ||
| mRNA |
chmp1a-203
(1)
|
Ensembl | 1,172 nt | ||
| ncRNA |
chmp1a-002
(1)
|
Ensembl | 552 nt |
Interactions and Pathways
No data available
| Name | Type | Antigen Genes | Isotype | Host Organism | Assay | Source | Citations |
|---|---|---|---|---|---|---|---|
| Ab1-chmp1a | polyclonal | IgG | Rabbit |
|
Abcam plc
|
2 |
Plasmids
No data available