USP20: Ubiquitin Specific Peptidase 20
A deubiquitinating enzyme involved in DNA repair, cell cycle regulation, and viral infection response.
Gene Information Card
| Symbol | USP20 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 20 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.11 |
| NCBI Gene ID | 10868 ncbi.nlm.nih.gov/gene/10868 |
| Ensembl ID | ENSG00000136869 |
| UniProt ID | Q9Y2K6 |
| OMIM ID | 615143 |
| HGNC ID | 12619 |
| Aliases | VDU2, p53BP2, USP20 |
Description
USP20 (Ubiquitin Specific Peptidase 20) encodes a deubiquitinating enzyme that removes ubiquitin from specific target proteins, regulating their stability and function. It plays roles in DNA damage repair, cell cycle progression, and antiviral signaling. USP20 is involved in the deubiquitination of proteins such as TRAF6, STING, and HIF-1α, influencing inflammatory responses and hypoxia adaptation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | USP20 overexpression may promote tumor growth via deubiquitination of HIF-1α and TRAF6 | NCBI Gene, COSMIC |
| Viral infections | USP20 deubiquitinates STING, negatively regulating antiviral type I interferon signaling | UniProt, NCBI Gene |
| Hypoxia-related disorders | USP20 stabilizes HIF-1α by removing ubiquitin, enhancing hypoxic response | UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | Medium |
| Lymph node | 18.7 | Medium |
| Spleen | 16.2 | Medium |
| Bone marrow | 14.5 | Medium |
| Brain | 8.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 22.4 | Embryonic kidney |
| HeLa | 18.9 | Cervical carcinoma |
| MCF7 | 15.3 | Breast cancer |
| A549 | 12.7 | Lung carcinoma |
| K562 | 10.1 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.1456G>A (p.Glu486Lys) | Missense | <0.01% | Unknown; reported in ClinVar |
| c.1789_1790insA | Frameshift | <0.01% | Likely loss of function; COSMIC |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.1789_1790insA) are predicted to cause loss of deubiquitinase activity.
Gain of Function (GOF)
Not well characterized; overexpression in cancer suggests potential gain-of-function in tumorigenesis.
Dominant Negative (DN)
No dominant negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • thiol-dependent deubiquitinase (GO:0004843) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123) | • type I interferon signaling pathway (GO:0060337) |
Pathways
• Ubiquitin-proteasome pathway
• TRAF6-mediated NF-kappaB activation
• STING-mediated antiviral response
• HIF-1 alpha stabilization under hypoxia
Protein Summary
USP20 is a 913-amino acid deubiquitinating enzyme containing a catalytic USP domain. It removes ubiquitin from substrates such as TRAF6, STING, and HIF-1α, thereby regulating immune signaling, DNA repair, and cellular adaptation to hypoxia. The protein is localized in both the nucleus and cytoplasm and is expressed in multiple tissues, with highest levels in testis and lymphoid organs.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP20 Knockout HEK293 Cell Line | EDJ-KQ2461 | Human | 10868 | Details Get a Quote |
| USP20 Knockout A-549 Cell Line | EDJ-KQ23007 | Human | 10868 | Details Get a Quote |
| USP20 Knockout HCT 116 Cell Line | EDJ-KQ23008 | Human | 10868 | Details Get a Quote |
| USP20 Knockout HeLa Cell Line | EDJ-KQ23009 | Human | 10868 | Details Get a Quote |
| Usp20 Knockout NIH 3T3 Cell Line | EDJ-KZ76 | Mouse | 74270 | Details Get a Quote |
