USP17L22: Ubiquitin-Specific Protease 17-Like Family Member 22
A deubiquitinating enzyme gene with potential roles in cell proliferation and cancer, part of the USP17-like family.
Gene Information Card
| Symbol | USP17L22 |
|---|---|
| Full Name | ubiquitin specific peptidase 17 like family member 22 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 100287485 ncbi.nlm.nih.gov/gene/100287485 |
| Ensembl ID | ENSG00000236358 |
| UniProt ID | A0A0A0MRZ3 |
| OMIM ID | None |
| HGNC ID | 44438 |
| Aliases | USP17L22, ubiquitin specific peptidase 17 like family member 22 |
Description
USP17L22 is a protein-coding gene located on chromosome 4p16.1. It belongs to the ubiquitin-specific protease (USP) family, which are deubiquitinating enzymes that remove ubiquitin from target proteins, thereby regulating protein stability, localization, and activity. USP17L22 is part of the USP17-like family, which has been implicated in cell proliferation, cell cycle regulation, and cancer. The gene is expressed in various tissues and may play a role in tumorigenesis, although specific functional studies are limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential role in cell proliferation; USP17 family members are known to regulate cell growth and are overexpressed in some cancers. | Inferred from family member studies; direct evidence for USP17L22 is lacking. |
| Lung cancer | USP17 family members have been shown to promote cell proliferation in lung cancer cell lines; USP17L22 may have similar effects. | Indirect evidence from family member studies; no direct clinical data. |
| Breast cancer | USP17 family members are overexpressed in breast cancer and contribute to tumor progression. | Indirect evidence from family member studies; no direct clinical data. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lung | 5.2 | Low |
| Breast | 4.8 | Low |
| Testis | 3.1 | Low |
| Spleen | 2.5 | Low |
| Brain | 1.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (Lung cancer) | 6.1 | Moderate expression |
| MCF7 (Breast cancer) | 5.4 | Moderate expression |
| HEK293 (Embryonic kidney) | 4.2 | Low expression |
| HeLa (Cervical cancer) | 3.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Not reported | Potential loss of start codon, affecting translation initiation. |
| c.100C>T (p.Arg34Trp) | Missense | Not reported | May affect protein function; no clinical significance established. |
| c.250G>A (p.Asp84Asn) | Missense | Not reported | No known effect; likely benign. |
Mutation functional classification
Loss of Function (LOF)
No specific loss-of-function mutations have been characterized for USP17L22. However, mutations affecting the catalytic domain could impair deubiquitinase activity, potentially leading to dysregulated protein degradation.
Gain of Function (GOF)
No gain-of-function mutations have been reported. Overexpression of USP17 family members is associated with oncogenic activity, but specific mutations that enhance activity are not documented.
Dominant Negative (DN)
No dominant-negative mutations have been described for USP17L22. In other USP17 family members, dominant-negative forms can inhibit cell proliferation, but this has not been studied for USP17L22.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • ubiquitin-specific protease activity |
| • proteolysis | • protein deubiquitination |
| • regulation of cell proliferation | • cell cycle |
Pathways
• Ubiquitin-Proteasome Pathway
• Cell Cycle Regulation
• p53 Signaling Pathway (potential)
Protein Summary
USP17L22 encodes a deubiquitinating enzyme that removes ubiquitin from target proteins, thereby preventing their degradation by the proteasome. This activity is crucial for regulating various cellular processes, including cell cycle progression, DNA repair, and apoptosis. The protein contains a peptidase C19 domain characteristic of ubiquitin-specific proteases. Although the specific substrates of USP17L22 are not fully characterized, it is likely involved in cell proliferation and survival, similar to other USP17 family members. Its expression in various tissues and cancer cell lines suggests a potential role in tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP17L22 Knockout HEK293 Cell Line | EDJ-KQ16064 | Human | 100287513 | Details Get a Quote |
| USP17L22 Knockout HeLa Cell Line | EDJ-KQ60867 | Human | 100287513 | Details Get a Quote |
| USP17L22 Knockout A-549 Cell Line | EDJ-KQ69341 | Human | 100287513 | Details Get a Quote |
| USP17L22 Knockout HCT 116 Cell Line | EDJ-KQ77695 | Human | 100287513 | Details Get a Quote |
