Usp48 Gene Summary [Mouse]
Predicted to enable cysteine-type deubiquitinase activity. Predicted to be involved in regulation of protein stability. Predicted to be located in mitochondrion; nucleoplasm; and postsynaptic membrane. Predicted to be active in cytosol and nucleus. Is expressed in several structures, including germ cell of testis; intestine; liver and biliary system; salivary gland; and thymus. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 85. Orthologous to human USP48 (ubiquitin specific peptidase 48). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Usp48 |
| Official Name | ubiquitin specific peptidase 48 [Source:MGI Symbol;Acc:MGI:2158502] |
| Ensembl ID | ENSMUSG00000043411 |
| Bio databases IDs | |
| Aliases | ubiquitin specific peptidase 48 |
| Synonyms | 2810449C13Rik, D330022K21Rik, DFNA85, LOC100911993, LOC674195, RAP1GA1, synUSP, ubiquitin specific peptidase 48, USP31 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Usp48 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Ubiquitin family
- Ubl1_cv_Nsp3_N-like
- peptidase
- Ubiquitin carboxyl-terminal hydrolase
- Ubiquitin homologues
- DUSP domain
- protein binding
- Peptidase_C19
- ubiquitin-like-specific protease
Pathways
Biological processes and signaling networks where the Usp48 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- epithelial cancer
- non-insulin-dependent diabetes mellitus
- hypothyroidism
- autosomal dominant deafness type 85
- liver cancer
- hepatocellular carcinoma
- nonalcoholic fatty liver disease
role in cell
- activation in
- expression in
- apoptosis
- proliferation
- accumulation in
- colony formation
- accumulation
- pyroptosis
- degradation in
- K48 polyubiquitination in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Mitochondria
- cytosol
- postsynaptic membrane
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Usp48 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein deubiquitination
- proteolysis
Cellular Component
Where in the cell the gene product is active
- nucleus
- mitochondrion
- cilium
- cytosol
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ubiquitin-specific protease activity
- protein binding
- cysteine-type endopeptidase activity