Gene
usp53a
- ID
- ZDB-GENE-060524-1
- Name
- ubiquitin specific peptidase 53a
- Symbol
- usp53a Nomenclature History
- Previous Names
-
- usp53
- KIAA1350 (1)
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in response to auditory stimulus and sensory perception of sound. Predicted to act upstream of or within protein deubiquitination. Predicted to be active in cell-cell junction.
- 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
- 1 Figure from Tse et al., 2009
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss | 619658 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Papain-like cysteine peptidase superfamily | Peptidase C19, ubiquitin carboxyl-terminal hydrolase |
|---|---|---|---|---|
| UniProtKB:A0A8M6Z1V0 | InterPro | 955 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available