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 enable 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 act upstream of or within protein catabolic process. Predicted to be part of ubiquitin ligase complex. Predicted to be active in cytoplasm. Human ortholog(s) of this gene implicated in Johanson-Blizzard syndrome and cardiovascular system disease. 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 |
| Domain | IPR055194 | E3 ubiquitin-protein ligase UBR1-like, winged-helix domain |
| 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-like, winged-helix domain | 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