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 have cysteine-type endopeptidase activity and thiol-dependent ubiquitin-specific protease activity. Involved in cranial skeletal system development. Predicted to localize to cytosol and nucleus. 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
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR018200 | Ubiquitin specific protease, conserved site |
Domain | IPR000626 | Ubiquitin-like domain |
Domain | IPR001394 | Peptidase C19, ubiquitin carboxyl-terminal hydrolase |
Domain | IPR006615 | Peptidase C19, ubiquitin-specific peptidase, DUSP domain |
Domain | IPR028889 | Ubiquitin specific protease domain |
Domain | IPR033841 | Ubiquitin-specific peptidase 48 |
Domain | IPR044743 | Ubiquitin-specific-processing protease 48, Ubl domain |
Family | IPR050164 | Ubiquitin carboxyl-terminal hydrolases |
Homologous_superfamily | IPR029071 | Ubiquitin-like domain superfamily |
Homologous_superfamily | IPR035927 | DUSP-like superfamily |
Homologous_superfamily | IPR038765 | Papain-like cysteine peptidase superfamily |
Domain Details Per Protein
Protein | Length | DUSP-like superfamily | Papain-like cysteine peptidase superfamily | Peptidase C19, ubiquitin carboxyl-terminal hydrolase | Peptidase C19, ubiquitin-specific peptidase, DUSP domain | Ubiquitin carboxyl-terminal hydrolases | Ubiquitin-like domain | Ubiquitin-like domain superfamily | Ubiquitin-specific peptidase 48 | Ubiquitin-specific-processing protease 48, Ubl domain | Ubiquitin specific protease, conserved site | Ubiquitin specific protease domain |
---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:A0A0R4IB93
|
1047 |
Interactions and Pathways
No data available
Plasmids
No data available