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 have phosphatidylinositol phosphate binding activity. Predicted to be involved in negative regulation of autophagosome maturation; negative regulation of endocytosis; and negative regulation of phosphatidylinositol 3-kinase activity. Predicted to localize to early endosome; intracellular membrane-bounded organelle; 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 | Length | Autophagy and Host Defense Regulator | Rubicon Homology Domain | Rubicon, PI3K-binding domain | RUN domain | RUN domain superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A2R8RJG6
|
905 | |||||
|
UniProtKB:A0A0N5E8A0
|
930 | |||||
|
UniProtKB:F1Q4W5
|
914 |
Interactions and Pathways
No data available
Plasmids
No data available