USP47: Ubiquitin Specific Peptidase 47
A deubiquitinating enzyme involved in DNA repair, cell cycle regulation, and cancer biology
Gene Information Card
| Symbol | USP47 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 47 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p15.3 |
| NCBI Gene ID | 55031 ncbi.nlm.nih.gov/gene/55031 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q96K76 |
| OMIM ID | 614477 |
| HGNC ID | 20094 |
| Aliases | UBP47, USP47_HUMAN |
Description
USP47 (Ubiquitin Specific Peptidase 47) is a deubiquitinating enzyme (DUB) that removes ubiquitin from specific protein substrates, thereby regulating protein stability, localization, and activity. It plays critical roles in DNA damage repair (particularly homologous recombination), cell cycle progression, and maintenance of genomic stability. USP47 is implicated in several cancers and is considered a potential therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | USP47 overexpression stabilizes β-catenin and promotes Wnt signaling, driving tumorigenesis | PMID: 25486456 |
| Breast Cancer | USP47 deubiquitinates and stabilizes DNA repair proteins (e.g., BRCA1), contributing to chemoresistance | PMID: 28991257 |
| Gastric Cancer | USP47 upregulation correlates with poor prognosis; promotes cell proliferation via deubiquitination of Snail | PMID: 31092832 |
| Lung Cancer | USP47 depletion sensitizes cells to DNA-damaging agents; involved in repair of double-strand breaks | PMID: 27609837 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Spleen | 9.8 | Medium |
| Bone marrow | 8.1 | Medium |
| Brain | 4.3 | Low |
| Liver | 3.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 12.8 | Medium expression |
| MCF7 | 11.5 | Medium expression |
| A549 | 10.1 | Medium expression |
| HCT116 | 9.4 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | 0.02% | Unknown functional impact |
| c.567_568insA (p.Glu190Argfs*5) | Frameshift | <0.01% | Predicted loss of function |
| c.2345G>A (p.Arg782His) | Missense | 0.01% | Reported in COSMIC; potential gain of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the catalytic domain are predicted to abolish deubiquitinase activity.
Gain of Function (GOF)
Missense mutations in the catalytic site may enhance substrate binding or catalytic efficiency, though evidence is limited.
Dominant Negative (DN)
No well-characterized dominant-negative mutations reported for USP47.
View complete mutation data：
Gene Ontology (GO)
| • thiol-dependent deubiquitinase (GO:0004843) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • DNA repair (GO:0006281) | • cellular response to DNA damage stimulus (GO:0006974) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
Pathways
• Homologous recombination repair (Reactome: R-HSA-5693568)
• Deubiquitination (Reactome: R-HSA-5688426)
• Wnt signaling pathway (KEGG: hsa04310)
Protein Summary
USP47 is a 1,352-amino acid deubiquitinating enzyme belonging to the ubiquitin-specific protease (USP) family. It contains a conserved catalytic domain (Cys box and His box) essential for its isopeptidase activity. USP47 interacts with and stabilizes key proteins such as DNA polymerase β, BRCA1, and β-catenin. Its expression is ubiquitous but enriched in tissues with high proliferative capacity. USP47 is a target for cancer therapy due to its role in DNA repair and oncogenic signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP47 Knockout HEK293 Cell Line | EDJ-KQ16083 | Human | 55031 | Details Get a Quote |
| USP47 Knockout A-549 Cell Line | EDJ-KQ47221 | Human | 55031 | Details Get a Quote |
| USP47 Knockout HCT 116 Cell Line | EDJ-KQ47222 | Human | 55031 | Details Get a Quote |
| USP47 Knockout HeLa Cell Line | EDJ-KQ47223 | Human | 55031 | Details Get a Quote |
