USP17L30 Gene - Ubiquitin Specific Peptidase 17 Like Family Member 30
A member of the USP17-like deubiquitinase family, potentially involved in cell proliferation and immune response regulation.
Gene Information Card
| Symbol | USP17L30 |
|---|---|
| Full Name | ubiquitin specific peptidase 17 like family member 30 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 (per NCBI annotation) |
| NCBI Gene ID | 100287534 ncbi.nlm.nih.gov/gene/100287534 |
| Ensembl ID | ENSG00000235109 |
| UniProt ID | A6NKF1 (isoform) |
| OMIM ID | None assigned |
| HGNC ID | 44465 |
| Aliases | USP17L30, ubiquitin carboxyl-terminal hydrolase 17-like protein 30 |
Description
USP17L30 is a protein-coding gene belonging to the USP17-like family of deubiquitinating enzymes. These enzymes remove ubiquitin from target proteins, thereby regulating protein stability, localization, and activity. The gene is located in a cluster of USP17-like genes on chromosome 8p23.1, a region known for copy number variations. USP17L30 is predicted to function as a cysteine protease, cleaving ubiquitin from substrates. Its expression is often associated with testis and certain cancer cell lines, suggesting a role in cell proliferation and immune modulation. However, detailed functional studies are limited, and much of the information is derived from computational predictions and homology with other USP17 family members.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (potential) | USP17 family members are implicated in cell proliferation and survival; overexpression may promote tumorigenesis by deubiquitinating oncogenic substrates. | Inferred from homology with USP17L2 and other family members; direct evidence for USP17L30 is lacking. |
| Inflammatory conditions (potential) | USP17-like genes modulate immune responses by regulating cytokine signaling; USP17L30 may have similar roles. | Inferred from family function; no direct clinical evidence. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available (no GTEx data for this gene) | Predicted high expression based on USP17 family patterns |
| Lymphoblastoid cells | Not available | Expressed in certain immune cell lines (from EST data) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa (cervical cancer) | Not available | USP17 family members are expressed in HeLa; USP17L30 may be present. |
| HEK293 (embryonic kidney) | Not available | Commonly used for overexpression studies; endogenous expression uncertain. |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No specific variants reported | Not applicable | Not applicable | No disease-associated mutations documented in ClinVar or COSMIC for USP17L30. |
Mutation functional classification
Loss of Function (LOF)
No known loss-of-function mutations reported. Predicted loss of catalytic cysteine would abolish deubiquitinase activity, but no clinical evidence.
Gain of Function (GOF)
No known gain-of-function mutations. Overexpression of USP17 family members can enhance deubiquitination, but specific for USP17L30 not established.
Dominant Negative (DN)
No evidence. Mutant forms lacking catalytic activity could act as dominant negatives, but not documented.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • ubiquitin-specific protease activity |
| • proteolysis | • ubiquitin-dependent protein catabolic process |
| • cytoplasm |
Pathways
• Ubiquitin-proteasome dependent proteolysis (KEGG: hsa04120)
• Deubiquitination (Reactome: R-HSA-5688426)
Protein Summary
USP17L30 is a putative deubiquitinating enzyme with a catalytic domain typical of ubiquitin-specific proteases. It likely removes ubiquitin from specific protein substrates, thereby preventing their degradation and modulating signaling pathways. The protein is predicted to localize to the cytoplasm. Due to high sequence similarity with other USP17 family members, its exact substrates and biological roles remain to be clarified. Expression data suggest enrichment in testis and certain cancer cell lines, hinting at roles in gametogenesis and oncogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| 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 |
