USP17L19 Gene: Ubiquitin-Specific Peptidase 17-Like Family Member 19
A member of the USP17 family of deubiquitinases, implicated in cell proliferation and cancer, located in a dynamic chromosomal region.
Gene Information Card
| Symbol | USP17L19 |
|---|---|
| Full Name | ubiquitin specific peptidase 17 like family member 19 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.1 (GRCh38) |
| NCBI Gene ID | 100287485 ncbi.nlm.nih.gov/gene/100287485 |
| Ensembl ID | ENSG00000235184 |
| UniProt ID | A6NKF1 |
| OMIM ID | None (not listed) |
| HGNC ID | 44430 |
| Aliases | USP17L19, DUB-3-like, USP17-like 19 |
Description
USP17L19 is a protein-coding gene belonging to the USP17 family of deubiquitinating enzymes. It is located on chromosome 4p16.1, a region known for copy number variations and gene duplications. The encoded protein contains a peptidase C19 domain typical of ubiquitin-specific proteases, which can remove ubiquitin from target proteins, thereby regulating their stability and function. USP17 family members have been implicated in cell proliferation, apoptosis, and immune responses, and are often dysregulated in various cancers. However, specific functional studies for USP17L19 are limited, and much of its characterization is inferred from homologous family members.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | USP17 family members are overexpressed in several cancers and can promote cell proliferation by deubiquitinating and stabilizing proteins like RBBP6 or by regulating NF-kB signaling. USP17L19 may contribute similarly, but direct evidence is lacking. | Inferred from family member studies (e.g., USP17L2, USP17L5) in NCBI and COSMIC; no direct ClinVar entries for USP17L19. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | No specific data; USP17 family members are often expressed in testis and certain immune cells. |
| Lung | Not available | No specific data; family members show variable expression. |
| Liver | Not available | No specific data. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | USP17 family members are expressed in HeLa cells; specific USP17L19 data not available. |
| HEK293 | Not available | Commonly used for overexpression studies of USP17 family. |
| Jurkat | Not available | USP17 family members are expressed in T cells; specific data not available. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No specific variants curated | Not applicable | Not applicable | No disease-associated variants reported in ClinVar or COSMIC for USP17L19. |
Mutation functional classification
Loss of Function (LOF)
No specific loss-of-function mutations have been reported for USP17L19. However, based on the USP17 family, loss of deubiquitinase activity could impair cell cycle regulation and apoptosis.
Gain of Function (GOF)
No specific gain-of-function mutations reported. Overexpression of USP17 family members is common in cancer and may act as a gain-of-function by increasing deubiquitination of oncogenic substrates.
Dominant Negative (DN)
No evidence for dominant-negative effects for USP17L19. In other USP17 members, catalytically inactive mutants can act as dominant negatives, but this has not been demonstrated for USP17L19.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • ubiquitin-specific protease activity |
| • proteolysis | • ubiquitin-dependent protein catabolic process |
| • regulation of cell proliferation |
Pathways
• Ubiquitin-proteasome system
• Deubiquitination
• Cell cycle regulation (inferred from family members)
Protein Summary
The USP17L19 protein is a predicted deubiquitinase with a peptidase C19 domain. It likely functions to remove ubiquitin from specific protein substrates, thereby preventing their degradation and modulating various cellular processes. Due to its location in a duplicated gene cluster, its expression and function may be redundant with other USP17 family members. Structural and functional characterization is still incomplete, and no high-resolution structure is available.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP17L19 Knockout HEK293 Cell Line | EDJ-KQ16061 | Human | 100287404 | Details Get a Quote |
| USP17L19 Knockout HeLa Cell Line | EDJ-KQ60864 | Human | 100287404 | Details Get a Quote |
| USP17L19 Knockout A-549 Cell Line | EDJ-KQ69338 | Human | 100287404 | Details Get a Quote |
| USP17L19 Knockout HCT 116 Cell Line | EDJ-KQ77692 | Human | 100287404 | Details Get a Quote |
