Gene
vps53
- ID
- ZDB-GENE-041114-199
- Name
- VPS53 subunit of GARP complex
- Symbol
- vps53 Nomenclature History
- Previous Names
-
- wu:fb77d11
- zgc:103741 (1)
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to be involved in retrograde transport, endosome to Golgi. Predicted to localize to GARP complex. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 2E. Orthologous to human VPS53 (VPS53 subunit of GARP complex).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:103741 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| pontocerebellar hypoplasia type 2E | Alliance | Pontocerebellar hypoplasia, type 2E | 615851 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Vacuolar protein sorting-associated protein 53 | Vps53, C-terminal | Vps53, C-terminal domain superfamily | Vps53, N-terminal |
|---|---|---|---|---|---|
|
UniProtKB:F6P6T6
|
831 | ||||
|
UniProtKB:E7FAG0
|
832 |
Interactions and Pathways
No data available
Plasmids
No data available