USP17L13
Ubiquitin Specific Peptidase 17 Like Family Member 13
Gene Information Card
| Symbol | USP17L13 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 17 Like Family Member 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 645619 ncbi.nlm.nih.gov/gene/645619 |
| Ensembl ID | ENSG00000228463 |
| UniProt ID | Q6ZRI6 |
| OMIM ID | Not available |
| HGNC ID | HGNC:37219 |
| Aliases | USP17L, USP17L13 |
Description
USP17L13 is a member of the ubiquitin-specific protease (USP) family, encoding a deubiquitinating enzyme that removes ubiquitin from target proteins. It is involved in regulation of cell proliferation, apoptosis, and immune signaling. The gene is located on chromosome 4p16.1 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Overexpression may promote cell proliferation by deubiquitinating oncogenic substrates | COSMIC; literature |
| Inflammatory disorders | Potential role in NF-κB pathway regulation via deubiquitination | UniProt; inferred from family members |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Lymph node | 8.7 | Low |
| Bone marrow | 6.3 | Low |
| Spleen | 5.1 | Low |
| Lung | 2.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.1 | Moderate expression |
| K562 | 9.8 | Low expression |
| HeLa | 7.3 | Low expression |
| HepG2 | 4.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | 0.01% | Unknown |
| c.45C>T | Synonymous | 0.02% | No effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant negative effects.
View complete mutation data：
Gene Ontology (GO)
| • thiol-dependent deubiquitinase (GO:0004843) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
Pathways
• Ubiquitin-proteasome pathway
• NF-κB signaling (inferred)
Protein Summary
USP17L13 is a deubiquitinating enzyme that cleaves ubiquitin from target proteins, thereby regulating protein stability and signaling. It is localized to the nucleus and cytoplasm and is implicated in cell cycle control and immune responses. Expression is highest in testis and lymphoid tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP17L13 Knockout HEK293 Cell Line | EDJ-KQ15267 | Human | 100287238 | Details Get a Quote |
| USP17L13 Knockout HeLa Cell Line | EDJ-KQ60858 | Human | 100287238 | Details Get a Quote |
| USP17L13 Knockout A-549 Cell Line | EDJ-KQ69332 | Human | 100287238 | Details Get a Quote |
| USP17L13 Knockout HCT 116 Cell Line | EDJ-KQ77686 | Human | 100287238 | Details Get a Quote |
