Gene
rubcn
- ID
- ZDB-GENE-100922-142
- Name
- rubicon autophagy regulator
- Symbol
- rubcn Nomenclature History
- Previous Names
-
- si:ch1073-167a23.1
- si:ch1073-280h16.1
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Predicted to enable phosphatidylinositol phosphate binding activity. Predicted to be involved in negative regulation of autophagosome maturation and negative regulation of endocytosis. Predicted to act upstream of or within autophagy. Predicted to be located in endosome. Predicted to be active in early endosome and late endosome. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 15. Orthologous to human RUBCN (rubicon autophagy regulator).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| autosomal recessive spinocerebellar ataxia 15 | Alliance | Spinocerebellar ataxia, autosomal recessive 15 | 615705 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Autophagy and Host Defense Regulator | Rubicon Homology Domain | Rubicon, PI3K-binding domain | RUN domain | RUN domain superfamily |
|---|---|---|---|---|---|---|---|
| UniProtKB:A0A2R8RJG6 | InterPro | 905 | |||||
| UniProtKB:A0A0N5E8A0 | InterPro | 930 | |||||
| UniProtKB:F1Q4W5 | InterPro | 914 |
Interactions and Pathways
No data available
Plasmids
No data available