USP17L24 Gene - Ubiquitin Specific Peptidase 17 Like Family Member 24
A member of the USP17 family of deubiquitinating enzymes, potentially involved in cell proliferation and immune response regulation.
Gene Information Card
| Symbol | USP17L24 |
|---|---|
| Full Name | ubiquitin specific peptidase 17 like family member 24 |
| Gene Type | protein-coding |
| Chromosomal Location | 8p23.1 |
| NCBI Gene ID | 100287485 ncbi.nlm.nih.gov/gene/100287485 |
| Ensembl ID | ENSG00000215790 |
| UniProt ID | A0A0A0MRZ8 |
| OMIM ID | Not available |
| HGNC ID | 44453 |
| Aliases | USP17L24 |
Description
USP17L24 is a protein-coding gene that belongs to the USP17 family of deubiquitinating enzymes. These enzymes remove ubiquitin from target proteins, thereby regulating protein stability, localization, and activity. USP17 family members are known to play roles in cell proliferation, apoptosis, and immune responses. The specific function of USP17L24 is not fully characterized, but it is predicted to have deubiquitinase activity. The gene is located on chromosome 8p23.1, a region associated with various cancers and immune-related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Not established | No direct disease association has been reported for USP17L24 in major databases (OMIM, ClinVar, COSMIC). | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | Not available | Low expression (based on EST data) |
| Lymph node | Not available | Low expression (based on EST data) |
| Bone marrow | Not available | Low expression (based on EST data) |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | Not available | No data |
| K562 | Not available | No data |
| MCF7 | Not available | No data |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported variants | Not applicable | Not applicable | No mutations have been catalogued in ClinVar or COSMIC for USP17L24. |
Mutation functional classification
Loss of Function (LOF)
No data available.
Gain of Function (GOF)
No data available.
Dominant Negative (DN)
No data available.
View complete mutation data:
Gene Ontology (GO)
| • cysteine-type peptidase activity | • ubiquitin-specific protease activity |
| • proteolysis |
Pathways
• Ubiquitin-mediated proteolysis (predicted)
Protein Summary
The USP17L24 protein is predicted to be a deubiquitinating enzyme, containing a peptidase C19 domain typical of ubiquitin-specific proteases. It likely cleaves ubiquitin from target proteins, influencing various cellular processes. However, experimental validation of its substrates and biological role is lacking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP17L24 Knockout HEK293 Cell Line | EDJ-KQ16067 | Human | 728369 | Details Get a Quote |
| USP17L24 Knockout A-549 Cell Line | EDJ-KQ47178 | Human | 728369 | Details Get a Quote |
| USP17L24 Knockout HCT 116 Cell Line | EDJ-KQ47179 | Human | 728369 | Details Get a Quote |
| USP17L24 Knockout HeLa Cell Line | EDJ-KQ47180 | Human | 728369 | Details Get a Quote |