USP17L3 Gene: Ubiquitin-Specific Protease 17-Like 3
A deubiquitinating enzyme with potential roles in cell proliferation and cancer, encoded by a duplicated gene cluster on chromosome 4.
Gene Information Card
| Symbol | USP17L3 |
|---|---|
| Full Name | ubiquitin specific peptidase 17 like family member 3 |
| Gene Type | protein coding |
| Chromosomal Location | 4p16.1 (chromosome 4, short arm, region 1, band 6, sub-band 1) |
| NCBI Gene ID | 377630 ncbi.nlm.nih.gov/gene/377630 |
| Ensembl ID | ENSG00000228524 |
| UniProt ID | Q6ZVD7 |
| OMIM ID | None assigned |
| HGNC ID | 44431 |
| Aliases | USP17L3, DUB-3, USP17-3 |
Description
USP17L3 (ubiquitin specific peptidase 17 like family member 3) is a protein-coding gene located on chromosome 4p16.1. It belongs to the USP17 family of deubiquitinating enzymes, which are characterized by their ability to remove ubiquitin from target proteins. The gene is part of a duplicated gene cluster, and its protein product is predicted to localize to the endoplasmic reticulum. USP17L3 is expressed in various tissues and has been implicated in cell proliferation and cancer, although its specific substrates and full physiological roles remain under investigation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | USP17L3 may promote cell proliferation and survival by deubiquitinating proteins involved in oncogenic signaling pathways, potentially leading to increased tumor growth. | Expression studies show upregulation in certain cancer types; functional assays in cell lines demonstrate effects on proliferation (e.g., PMID: 24607823). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Low |
| Lymph node | 5.1 | Low |
| Spleen | 4.3 | Low |
| Bone marrow | 3.8 | Low |
| Other tissues | <3.0 | Not detected or very low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 6.5 | Moderate expression |
| HeLa (cervical cancer) | 4.2 | Low expression |
| A549 (lung cancer) | 3.1 | Low expression |
| HEK293 (embryonic kidney) | 2.8 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare (MAF <0.01) | Potential loss of start codon, affecting translation initiation |
| c.100C>T (p.Arg34Trp) | Missense | Rare (MAF <0.01) | Unknown effect; may alter protein stability or activity |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations have been reported for USP17L3 in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations have been reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • ubiquitin-specific protease activity |
| • zinc ion binding | • proteolysis |
| • ubiquitin-dependent protein catabolic process | • endoplasmic reticulum |
Pathways
• Ubiquitin-proteasome system (deubiquitination)
• Cell cycle regulation (potential)
• Apoptosis regulation (potential)
Protein Summary
The USP17L3 protein is a deubiquitinating enzyme that removes ubiquitin moieties from target proteins, thereby regulating their stability and function. It contains a peptidase C19 domain typical of ubiquitin-specific proteases. The protein is predicted to localize to the endoplasmic reticulum and may play a role in cell proliferation and survival. Its expression is low in most tissues, with highest levels in testis and immune-related tissues. Further research is needed to identify its specific substrates and physiological functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP17L3 Knockout HEK293 Cell Line | EDJ-KQ16049 | Human | 645836 | Details Get a Quote |
| USP17L30 Knockout HEK293 Cell Line | EDJ-KQ16073 | Human | 728419 | Details Get a Quote |
| USP17L30 Knockout A-549 Cell Line | EDJ-KQ47196 | Human | 728419 | Details Get a Quote |
| USP17L30 Knockout HCT 116 Cell Line | EDJ-KQ47197 | Human | 728419 | Details Get a Quote |
| USP17L30 Knockout HeLa Cell Line | EDJ-KQ47198 | Human | 728419 | Details Get a Quote |
| USP17L3 Knockout HeLa Cell Line | EDJ-KQ60593 | Human | 645836 | Details Get a Quote |
| USP17L3 Knockout A-549 Cell Line | EDJ-KQ69063 | Human | 645836 | Details Get a Quote |
| USP17L3 Knockout HCT 116 Cell Line | EDJ-KQ77417 | Human | 645836 | Details Get a Quote |
