USP17L17: Ubiquitin-Specific Peptidase 17-Like Family Member 17
A deubiquitinase with potential roles in cell proliferation and cancer, part of the USP17-like gene cluster.
Gene Information Card
| Symbol | USP17L17 |
|---|---|
| Full Name | ubiquitin specific peptidase 17 like family member 17 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p15.31 |
| NCBI Gene ID | 100287485 ncbi.nlm.nih.gov/gene/100287485 |
| Ensembl ID | ENSG00000235184 |
| UniProt ID | A6NKF1 |
| OMIM ID | None |
| HGNC ID | 44418 |
| Aliases | USP17L17, ubiquitin carboxyl-terminal hydrolase 17-like protein 17 |
Description
USP17L17 is a protein-coding gene that belongs to the USP17-like family of deubiquitinating enzymes. These enzymes remove ubiquitin from target proteins, thereby regulating protein stability, localization, and activity. USP17L17 is located in a cluster of USP17-like genes on chromosome 4p15.31. While its specific substrates and physiological functions are not fully characterized, USP17 family members have been implicated in cell proliferation, immune response, and cancer. The protein contains a peptidase C19 domain characteristic of ubiquitin-specific proteases. Expression data suggest low to moderate levels in various tissues, with potential roles in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | USP17 family members can promote cell proliferation and survival; USP17L17 may have similar oncogenic potential, though direct evidence is limited. | Inferred from family member function (USP17L2, USP17L5) and expression in cancer cell lines (COSMIC). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 3.2 | Low |
| Lymph node | 2.1 | Low |
| Spleen | 1.8 | Low |
| Bone marrow | 1.5 | Low |
| Other tissues | <1.0 | Not detected or very low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 | 2.5 | Chronic myelogenous leukemia; low expression |
| HeLa | 1.9 | Cervical carcinoma; low expression |
| A549 | 1.2 | Lung carcinoma; low expression |
| MCF7 | 0.8 | Breast adenocarcinoma; very low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Not reported in population databases | Potential loss of start codon, may affect translation |
| c.250C>T (p.Arg84Trp) | Missense | Not reported | Unknown effect; located in peptidase domain, may alter activity |
Mutation functional classification
Loss of Function (LOF)
No specific loss-of-function mutations have been characterized for USP17L17. However, mutations in the catalytic domain could impair deubiquitinase activity.
Gain of Function (GOF)
No evidence of gain-of-function mutations. Overexpression of USP17 family members is associated with oncogenic phenotypes.
Dominant Negative (DN)
Not described for USP17L17. Dominant-negative effects have been observed for other USP17 family members when catalytic cysteine is mutated.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • ubiquitin-specific protease activity |
| • proteolysis | • protein deubiquitination |
| • regulation of cell proliferation |
Pathways
• Ubiquitin-proteasome system
• Deubiquitination
Protein Summary
USP17L17 is a deubiquitinating enzyme that likely removes ubiquitin from specific protein substrates, thereby preventing their degradation or altering their function. The protein contains a conserved peptidase C19 domain essential for its catalytic activity. Although its exact substrates are unknown, USP17 family members are known to regulate cell cycle progression and apoptosis. USP17L17 may play a role in cancer biology, as its expression is observed in certain tumor cell lines. Further research is needed to elucidate its specific functions and substrates.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP17L17 Knockout HEK293 Cell Line | EDJ-KQ16059 | Human | 100287327 | Details Get a Quote |
| USP17L17 Knockout HeLa Cell Line | EDJ-KQ60860 | Human | 100287327 | Details Get a Quote |
| USP17L17 Knockout A-549 Cell Line | EDJ-KQ69334 | Human | 100287327 | Details Get a Quote |
| USP17L17 Knockout HCT 116 Cell Line | EDJ-KQ77688 | Human | 100287327 | Details Get a Quote |
