USP17L18 Gene - Ubiquitin Specific Peptidase 17 Like Family Member 18
A member of the USP17-like deubiquitinase family, potentially involved in cell proliferation and immune response regulation.
Gene Information Card
| Symbol | USP17L18 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 17 Like Family Member 18 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 100287485 ncbi.nlm.nih.gov/gene/100287485 |
| Ensembl ID | ENSG00000228594 |
| UniProt ID | A0A0A0MRZ3 |
| OMIM ID | Not available |
| HGNC ID | 44513 |
| Aliases | USP17L18, ubiquitin specific peptidase 17-like family member 18 |
Description
USP17L18 is a protein-coding gene that belongs to the USP17-like family of deubiquitinating enzymes. These enzymes remove ubiquitin from target proteins, thereby regulating protein stability, localization, and activity. USP17L18 is located on chromosome 4p16.1, a region known for copy number variations. The gene is part of a cluster of USP17-like genes that are often tandemly duplicated. While the specific function of USP17L18 is not fully characterized, it is predicted to have deubiquitinase activity and may play a role in cell proliferation, apoptosis, and immune responses, similar to other USP17 family members.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (potential) | USP17 family members are implicated in cell proliferation and survival; overexpression may promote tumorigenesis. | Inferred from family members; direct evidence for USP17L18 is lacking. |
| Inflammatory diseases (potential) | USP17-like genes modulate cytokine signaling and immune responses. | Inferred from family members; direct evidence for USP17L18 is lacking. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | Low expression |
| Lymph node | Not available | Low expression |
| Bone marrow | Not available | Low expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | Low expression |
| HEK293 | Not available | Low expression |
| K562 | Not available | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No specific variants reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
Not characterized; no loss-of-function mutations reported.
Gain of Function (GOF)
Not characterized; no gain-of-function mutations reported.
Dominant Negative (DN)
Not characterized; no dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • ubiquitin-specific protease activity |
| • proteolysis | • ubiquitin-dependent protein catabolic process |
Pathways
• Ubiquitin-Proteasome Dependent Proteolysis
• Deubiquitination
Protein Summary
The USP17L18 protein is predicted to be a deubiquitinating enzyme, containing a peptidase C19 domain characteristic of ubiquitin-specific proteases. It likely removes ubiquitin moieties from specific substrates, thereby influencing their stability and function. However, the exact substrates and biological processes regulated by USP17L18 remain to be determined. Its expression is low in most tissues, suggesting a restricted or inducible role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP17L18 Knockout HEK293 Cell Line | EDJ-KQ16060 | Human | 100287364 | Details Get a Quote |
| USP17L18 Knockout HeLa Cell Line | EDJ-KQ60862 | Human | 100287364 | Details Get a Quote |
| USP17L18 Knockout A-549 Cell Line | EDJ-KQ69336 | Human | 100287364 | Details Get a Quote |
| USP17L18 Knockout HCT 116 Cell Line | EDJ-KQ77690 | Human | 100287364 | Details Get a Quote |
