USP17L1: Ubiquitin Specific Peptidase 17 Like 1
A deubiquitinating enzyme with roles in cell proliferation and immune regulation
Gene Information Card
| Symbol | USP17L1 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 17 Like 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 11274 ncbi.nlm.nih.gov/gene/11274 |
| Ensembl ID | ENSG00000138674 |
| UniProt ID | Q6UW56 |
| OMIM ID | None |
| HGNC ID | 20253 |
| Aliases | USP17, USP17L, DUB-3 |
Description
USP17L1 is a member of the ubiquitin-specific protease (USP) family that functions as a deubiquitinating enzyme. It removes ubiquitin from target proteins, thereby regulating protein stability and signaling pathways. USP17L1 is involved in cell proliferation, apoptosis, and immune responses. Its expression is altered in various cancers, suggesting a role in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression may promote cell proliferation by deubiquitinating and stabilizing oncoproteins | PMID: 23431136 |
| Lung cancer | Upregulation associated with increased cell growth and resistance to apoptosis | PMID: 25605247 |
| Colorectal cancer | Altered expression linked to tumor progression and poor prognosis | PMID: 27323851 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.3 | Low |
| Bone marrow | 6.7 | Low |
| Spleen | 5.9 | Low |
| Lung | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | Embryonic kidney cells |
| HeLa | 10.8 | Cervical cancer cells |
| A549 | 8.5 | Lung cancer cells |
| MCF7 | 7.3 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Unknown functional impact |
| c.100C>T | Nonsense | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations may lead to truncated protein and loss of deubiquitinase activity.
Gain of Function (GOF)
Not reported in literature.
Dominant Negative (DN)
Not reported in literature.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type endopeptidase activity | • ubiquitin-specific protease activity |
| • proteolysis | • protein deubiquitination |
| • cell proliferation | • apoptotic process |
Pathways
• Ubiquitin mediated proteolysis
• Deubiquitination
Protein Summary
USP17L1 encodes a 530-amino acid protein containing a catalytic domain characteristic of ubiquitin-specific proteases. It cleaves ubiquitin from target proteins, influencing their stability and function. The protein is localized in the cytoplasm and nucleus, and its activity is implicated in cell cycle regulation and immune signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP17L1 Knockout HEK293 Cell Line | EDJ-KQ11637 | Human | 401447 | Details Get a Quote |
| USP17L13 Knockout HEK293 Cell Line | EDJ-KQ15267 | Human | 100287238 | Details Get a Quote |
| USP17L10 Knockout HEK293 Cell Line | EDJ-KQ16054 | Human | 100287144 | Details Get a Quote |
| USP17L11 Knockout HEK293 Cell Line | EDJ-KQ16055 | Human | 100287178 | Details Get a Quote |
| USP17L12 Knockout HEK293 Cell Line | EDJ-KQ16056 | Human | 100287205 | Details Get a Quote |
| USP17L15 Knockout HEK293 Cell Line | EDJ-KQ16058 | Human | 100288520 | Details Get a Quote |
| USP17L17 Knockout HEK293 Cell Line | EDJ-KQ16059 | Human | 100287327 | Details Get a Quote |
| USP17L18 Knockout HEK293 Cell Line | EDJ-KQ16060 | Human | 100287364 | Details Get a Quote |
| USP17L19 Knockout HEK293 Cell Line | EDJ-KQ16061 | Human | 100287404 | Details Get a Quote |
| USP17L1 Knockout HeLa Cell Line | EDJ-KQ60301 | Human | 401447 | Details Get a Quote |
| USP17L10 Knockout HeLa Cell Line | EDJ-KQ60853 | Human | 100287144 | Details Get a Quote |
| USP17L11 Knockout HeLa Cell Line | EDJ-KQ60855 | Human | 100287178 | Details Get a Quote |
| USP17L12 Knockout HeLa Cell Line | EDJ-KQ60856 | Human | 100287205 | Details Get a Quote |
| USP17L13 Knockout HeLa Cell Line | EDJ-KQ60858 | Human | 100287238 | Details Get a Quote |
| USP17L17 Knockout HeLa Cell Line | EDJ-KQ60860 | Human | 100287327 | Details Get a Quote |
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