USP53 Gene Summary [Human]
Predicted to enable thiol-dependent deubiquitinase. Predicted to be involved in response to auditory stimulus and sensory perception of sound. Predicted to act upstream of or within action potential and neuron apoptotic process. Predicted to be located in bicellular tight junction. Predicted to be active in cell-cell junction. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Retained Intron |
| Official Symbol | USP53 |
| Official Name | ubiquitin specific peptidase 53 [Source:HGNC Symbol;Acc:HGNC:29255] |
| Ensembl ID | ENSG00000145390 |
| Bio databases IDs | |
| Aliases | ubiquitin specific peptidase 53 |
| Synonyms | AA939927, KIAA1350, LOC401151, mbo, mKIAA1350, PFIC7, PHXR3, Sp6, ubiquitin specific peptidase 53 |
| Species | Human, Homo sapiens |
| 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 human USP53 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 carboxyl-terminal hydrolase
- enzyme
- protein binding
- Peptidase_C19
- ubiquitin-like-specific protease
Pathways
Biological processes and signaling networks where the USP53 gene in human 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
- progressive familial intrahepatic cholestasis type 7 without hearing loss
- Alzheimer disease
- organismal death
- progressive familial intrahepatic cholestasis type 7 with or without hearing loss
- early missed abortion
- colon cancer
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
- astigmatism
- progressive hearing impairment
role in cell
- apoptosis
- expression in
- phosphorylation in
- proliferation
- migration
- invasion by
- degradation in
- ubiquitination in
- stabilization in
- paclitaxel sensitivity
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- intercellular junctions
- apical cell surfaces
- tight junctions
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human USP53 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- sensory perception of sound
- response to auditory stimulus
- regulation of action potential
Cellular Component
Where in the cell the gene product is active
- tight junction
- cell-cell junction
Molecular Function
What the gene product does at the molecular level
- ubiquitin-specific protease activity
- protein binding