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 be located in Golgi apparatus; endosome membrane; and recycling endosome. Predicted to be part of 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 | Additional Resources | Length | Vacuolar protein sorting-associated protein 53 | Vps53, C-terminal | Vps53, C-terminal domain superfamily | Vps53, N-terminal |
|---|---|---|---|---|---|---|
| UniProtKB:F6P6T6 | InterPro | 831 | ||||
| UniProtKB:E7FAG0 | InterPro | 832 |
Interactions and Pathways
No data available
Plasmids
No data available