Gene
ubr1
- ID
- ZDB-GENE-091110-2
- Name
- ubiquitin protein ligase E3 component n-recognin 1
- Symbol
- ubr1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to have ubiquitin protein ligase activity. Predicted to be involved in protein ubiquitination and ubiquitin-dependent protein catabolic process via the N-end rule pathway. Predicted to localize to cytoplasm and ubiquitin ligase complex. Human ortholog(s) of this gene implicated in Johanson-Blizzard syndrome. Orthologous to human UBR1 (ubiquitin protein ligase E3 component n-recognin 1).
- 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 |
|---|---|---|---|
| Johanson-Blizzard syndrome | Alliance | Johanson-Blizzard syndrome | 243800 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003126 | Zinc finger, UBR-type |
| Domain | IPR003769 | Adaptor protein ClpS, core |
| Domain | IPR044046 | E3 ubiquitin-protein ligase UBR-like, C-terminal |
| Domain | IPR047507 | E3 ubiquitin-protein ligase UBR1, UBR-box |
| Family | IPR039164 | E3 ubiquitin-protein ligase UBR1-like |
| Homologous_superfamily | IPR014719 | Ribosomal protein bL12, C-terminal/adaptor protein ClpS-like |
| Homologous_superfamily | IPR036390 | Winged helix DNA-binding domain superfamily |
| Homologous_superfamily | IPR042065 | E3 ubiquitin-protein ligase ELL-like |
Domain Details Per Protein
| Protein | Length | Adaptor protein ClpS, core | E3 ubiquitin-protein ligase ELL-like | E3 ubiquitin-protein ligase UBR1-like | E3 ubiquitin-protein ligase UBR1, UBR-box | E3 ubiquitin-protein ligase UBR-like, C-terminal | Ribosomal protein bL12, C-terminal/adaptor protein ClpS-like | Winged helix DNA-binding domain superfamily | Zinc finger, UBR-type |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9P0T8
|
1731 |
Interactions and Pathways
No data available
Plasmids
No data available