USP7 Gene Summary [Human]
The protein encoded by this gene belongs to the peptidase C19 family, which includes ubiquitinyl hydrolases. This protein deubiquitinates target proteins such as p53 (a tumor suppressor protein) and WASH (essential for endosomal protein recycling), and regulates their activities by counteracting the opposing ubiquitin ligase activity of proteins such as HDM2 and TRIM27, involved in the respective process. Mutations in this gene have been implicated in a neurodevelopmental disorder. [provided by RefSeq, Mar 2016]
Details
| Type | Protein Coding |
| Official Symbol | USP7 |
| Official Name | ubiquitin specific peptidase 7 [Source:HGNC Symbol;Acc:HGNC:12630] |
| Ensembl ID | ENSG00000187555 |
| Bio databases IDs | |
| Aliases | ubiquitin specific peptidase 7 |
| Synonyms | 2210010O09Rik, C16DELp13.2, DEL16P13.2, HAFOUS, HAUSP, TEF1, ubiquitin specific peptidase 7, UBP7 |
| 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 USP7 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- MATH
- catalytic domain
- peptidase
- p53 binding
- TRAF domain
- Ubiquitin-specific protease C-terminal
- protein binding
- ubiquitin-like domain
- identical protein binding
- Peptidase_C19
- cysteine endopeptidase
- ICP0-binding domain of Ubiquitin-specific protease 7
- Ubiquitin carboxyl-terminal hydrolase
- ubiquitin-specific protease
- TRAF-like domain
- ubiquitin-like-specific protease
Pathways
Biological processes and signaling networks where the USP7 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
- non-small cell lung cancer
- house dust mite induced asthma-like allergic lung inflammation
- hepatocellular carcinoma
- liver cancer
- plasma cell myeloma
- epithelial cancer
- hereditary disorder
- Hao-Fountain syndrome
- organismal death
- T acute lymphoblastic leukemia
role in cell
- quantity
- expression in
- cell viability
- growth
- replication in
- production in
- accumulation in
- proliferation
- activation in
- apoptosis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- Cytoplasm
- cytosol
- nucleoplasm
- sex chromatin
- synaptosomes
- PML nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human USP7 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein deubiquitination
- monoubiquitinated protein deubiquitination
- negative regulation of NF-kappaB transcription factor activity
- transcription-coupled nucleotide-excision repair
- negative regulation of gluconeogenesis
- hypermethylation of CpG island
- regulation of circadian rhythm
- regulation of sequence-specific DNA binding transcription factor activity
- DNA dealkylation involved in DNA repair
- regulation of protein stability
- rhythmic process
- disassembly by symbiont of host cell PML body
- proteolysis
- protein stabilization
- negative regulation of proteasomal ubiquitin-dependent protein catabolic process
- protein ubiquitination
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- PML body
- cytosol
- macromolecular complex
- chromosome
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ubiquitin-specific protease activity
- p53 binding
- protein binding
- cysteine-type endopeptidase activity