Gene
vps51
- ID
- ZDB-GENE-030131-6008
- Name
- VPS51 subunit of GARP complex
- Symbol
- vps51 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 10 Mapping Details/Browsers
- Description
- Enables small GTPase binding activity. Acts upstream of or within several processes, including Golgi organization; lipid digestion; and regulation of phospholipase activity. Predicted to be located in recycling endosome. Predicted to be part of EARP complex and GARP complex. Predicted to be active in membrane. Is expressed in digestive system; head; heart; and trunk musculature. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia type 13. Orthologous to human VPS51 (VPS51 subunit of GARP complex).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| pontocerebellar hypoplasia type 13 | Alliance | Pontocerebellar hypoplasia, type 13 | 618606 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Cullin repeat-like-containing domain superfamily | Vacuolar protein sorting-associated protein 51 |
|---|---|---|---|
|
UniProtKB:Q155U0
|
827 |
Interactions and Pathways
No data available
Plasmids
No data available