USP17L11: Ubiquitin-Specific Peptidase 17-Like Family Member 11
A deubiquitinating enzyme gene within the USP17 family, implicated in cell proliferation and potential oncogenic roles.
Gene Information Card
| Symbol | USP17L11 |
|---|---|
| Full Name | Ubiquitin specific peptidase 17-like family member 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 100287485 ncbi.nlm.nih.gov/gene/100287485 |
| Ensembl ID | ENSG00000229349 |
| UniProt ID | Q0WX57 |
| OMIM ID | None |
| HGNC ID | 44438 |
| Aliases | USP17L, USP17L11 |
Description
USP17L11 is a protein-coding gene belonging to the ubiquitin-specific peptidase 17 (USP17) family. It encodes a deubiquitinating enzyme that removes ubiquitin from target proteins, thereby regulating various cellular processes including cell proliferation, apoptosis, and immune responses. The gene is located on chromosome 8p23.1, a region known for copy number variations. USP17L11 is one of several highly similar USP17-like genes, and its expression is often dysregulated in certain cancers, suggesting a potential role in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Lung Cancer | Overexpression of USP17L11 may promote cell proliferation and survival by deubiquitinating key oncogenic substrates, though specific substrates remain to be fully characterized. | Expression data from cancer cell lines (COSMIC) and literature on USP17 family members. |
| Breast Cancer | USP17 family members are overexpressed in breast cancer, potentially contributing to tumor progression through enhanced deubiquitinase activity. | COSMIC expression data and studies on USP17 family in breast cancer. |
| Colorectal Cancer | USP17L11 may be amplified or overexpressed in colorectal cancer, leading to increased cell cycle progression. | Copy number alterations and expression data from COSMIC. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lymph node | 8.7 | Low |
| Bone marrow | 6.2 | Low |
| Lung | 4.5 | Low |
| Breast | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung) | 15.2 | High expression in lung cancer cell line |
| MCF7 (Breast) | 10.8 | Moderate expression in breast cancer cell line |
| HCT116 (Colon) | 9.5 | Moderate expression in colorectal cancer cell line |
| HEK293 (Embryonic kidney) | 5.3 | Low expression in normal cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | 0.01% (COSMIC) | Potential loss of start codon, affecting translation initiation. |
| c.245C>T (p.Thr82Ile) | Missense | 0.02% (COSMIC) | May alter substrate specificity or catalytic activity. |
| c.512A>G (p.Glu171Gly) | Missense | 0.005% (COSMIC) | Located in catalytic domain, possibly affecting deubiquitinase activity. |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the catalytic cysteine or histidine residues in the USP domain would likely result in loss of deubiquitinase activity, impairing substrate deubiquitination and downstream signaling.
Gain of Function (GOF)
Amplification or overexpression of USP17L11 could lead to increased deubiquitination of oncogenic substrates, enhancing cell proliferation and survival.
Dominant Negative (DN)
Truncated or catalytically inactive variants may compete with wild-type USP17L11 for substrate binding, thereby inhibiting normal deubiquitination.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • ubiquitin-specific protease activity |
| • proteolysis | • protein deubiquitination |
| • regulation of cell proliferation | • apoptotic process |
Pathways
• Ubiquitin-Proteasome Dependent Proteolysis
• Cell Cycle Regulation
• Apoptosis Signaling
Protein Summary
USP17L11 encodes a 530-amino acid protein with a conserved ubiquitin-specific protease (USP) catalytic domain. The protein functions as a deubiquitinating enzyme, cleaving ubiquitin moieties from target proteins to regulate their stability and activity. It is localized in the cytoplasm and nucleus, and its expression is induced by growth factors and cytokines. USP17L11 has been implicated in cell proliferation and survival, and its overexpression in various cancers suggests a potential oncogenic role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP17L11 Knockout HEK293 Cell Line | EDJ-KQ16055 | Human | 100287178 | Details Get a Quote |
| USP17L11 Knockout HeLa Cell Line | EDJ-KQ60855 | Human | 100287178 | Details Get a Quote |
| USP17L11 Knockout A-549 Cell Line | EDJ-KQ69329 | Human | 100287178 | Details Get a Quote |
| USP17L11 Knockout HCT 116 Cell Line | EDJ-KQ77683 | Human | 100287178 | Details Get a Quote |
