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
- Exhibits ADP-ribosylation factor binding activity. Involved in several processes, including Golgi organization; lipid digestion; and regulation of phospholipase activity. Predicted to localize to EARP complex; Golgi apparatus; and membrane. Human ortholog(s) of this gene implicated in pontocerebellar hypoplasia. Is expressed in digestive system; head; heart; and trunk musculature. 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