Gene
vps50
- ID
- ZDB-GENE-060503-325
- Name
- VPS50 EARP/GARPII complex subunit
- Symbol
- vps50 Nomenclature History
- Previous Names
-
- ccdc132
- si:ch211-128d6.1
- si:ch211-287b5.1
- si:ch211-77k19.1
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to have SNARE binding activity. Predicted to be involved in endocytic recycling. Predicted to localize to EARP complex. Is expressed in head and heart. Orthologous to human VPS50 (VPS50 subunit of EARP/GARPII complex).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 1 figure from Shi et al., 2019
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Shi et al., 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis | 619685 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | Syndetin | Syndetin, C-terminal | Vacuolar protein sorting-associated protein 54, N-terminal |
---|---|---|---|---|
UniProtKB:A0A8M9PD69
|
285 | |||
UniProtKB:F1R0A4
|
965 | |||
UniProtKB:A0A8M6YUM6
|
989 | |||
UniProtKB:A0A8M9Q2Y4
|
551 | |||
UniProtKB:A0A8M6Z2H2
|
990 |
Interactions and Pathways
No data available
Plasmids
No data available