Gene
usp48
- ID
- ZDB-GENE-050522-197
- Name
- ubiquitin specific peptidase 48
- Symbol
- usp48 Nomenclature History
- Previous Names
-
- im:7139343
- zgc:112364 (1)
- Type
- protein_coding_gene
- Location
- Chr: 11 Mapping Details/Browsers
- Description
- Predicted to enable cysteine-type deubiquitinase activity. Acts upstream of or within several processes, including cranial skeletal system development; response to auditory stimulus; and thigmotaxis. Predicted to be located in cytoplasm. Predicted to be active in cytosol and nucleus. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness. Orthologous to human USP48 (ubiquitin specific peptidase 48).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7139343 (1 image)
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| autosomal dominant nonsyndromic deafness 85 | Alliance | Deafness, autosomal dominant 85 | 620227 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
| Protein | Additional Resources | Length |
|---|---|---|
| UniProtKB:A0AB13AAA7 | InterPro | 1047 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available