USP17L20: Ubiquitin-Specific Peptidase 17-Like Family Member 20
A poorly characterized deubiquitinase gene within the USP17 family, implicated in cell proliferation and potential oncogenic processes.
Gene Information Card
| Symbol | USP17L20 |
|---|---|
| Full Name | ubiquitin specific peptidase 17 like family member 20 |
| Gene Type | protein coding |
| Chromosomal Location | 4p16.1 (GRCh38: 4:9,310,000-9,320,000 approx.) |
| NCBI Gene ID | 100287485 ncbi.nlm.nih.gov/gene/100287485 |
| Ensembl ID | ENSG00000228594 |
| UniProt ID | A0A0A0MRZ8 (predicted) |
| OMIM ID | Not assigned |
| HGNC ID | 44467 |
| Aliases | USP17L20, DUB-3-like, USP17-like |
Description
USP17L20 is a protein-coding gene belonging to the USP17 family of deubiquitinating enzymes. It is located on chromosome 4p16.1, a region frequently amplified in various cancers. The gene encodes a protein with a peptidase C19 domain characteristic of ubiquitin-specific proteases. While its specific substrates and biological functions remain largely uncharacterized, USP17 family members are known to regulate cell proliferation, survival, and immune responses. USP17L20 is predicted to be involved in deubiquitination, thereby influencing protein stability and signaling pathways. Its expression is often dysregulated in tumor cells, suggesting a potential role in oncogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | USP17 family members, including USP17L20, are frequently overexpressed in various cancers due to gene amplification at 4p16.1. They may promote cell proliferation by deubiquitinating and stabilizing oncogenic proteins. | Inferred from family member studies; direct evidence for USP17L20 is limited. |
| Lung cancer | USP17 family genes are overexpressed in lung cancer cell lines and tissues, potentially contributing to tumor growth. | Inferred from family member studies; direct evidence for USP17L20 is limited. |
| Colorectal cancer | USP17 family members are upregulated in colorectal cancer and may enhance cell cycle progression. | Inferred from family member studies; direct evidence for USP17L20 is limited. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | Low expression (based on EST data) |
| Lung | Not available | Low expression |
| Colon | Not available | Low expression |
| Breast | Not available | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | Not available | USP17 family members are expressed; specific USP17L20 not quantified |
| A549 (lung cancer) | Not available | USP17 family members are expressed; specific USP17L20 not quantified |
| HCT116 (colorectal cancer) | Not available | USP17 family members are expressed; specific USP17L20 not quantified |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No specific variants reported | Not applicable | Not applicable | No curated mutations in ClinVar or COSMIC for USP17L20 |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations have been reported for USP17L20.
Gain of Function (GOF)
No gain-of-function mutations have been reported; however, gene amplification may lead to overexpression.
Dominant Negative (DN)
No dominant-negative mutations have been described.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • ubiquitin-specific protease activity |
| • proteolysis | • ubiquitin-dependent protein catabolic process |
| • regulation of cell proliferation |
Pathways
• Ubiquitin-proteasome system
• Deubiquitination pathway
Protein Summary
The USP17L20 protein is a predicted deubiquitinase containing a peptidase C19 domain. It likely removes ubiquitin from target proteins, thereby preventing their degradation and modulating signaling pathways. Due to its similarity to other USP17 family members, it is expected to play a role in cell cycle regulation and oncogenesis. However, experimental validation of its substrates and function is lacking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP17L20 Knockout HEK293 Cell Line | EDJ-KQ16062 | Human | 100287441 | Details Get a Quote |
| USP17L20 Knockout HeLa Cell Line | EDJ-KQ60865 | Human | 100287441 | Details Get a Quote |
| USP17L20 Knockout A-549 Cell Line | EDJ-KQ69339 | Human | 100287441 | Details Get a Quote |
| USP17L20 Knockout HCT 116 Cell Line | EDJ-KQ77693 | Human | 100287441 | Details Get a Quote |
