USP17L4 Gene: Ubiquitin-Specific Peptidase 17-Like Family Member 4
A deubiquitinating enzyme gene implicated in cell cycle regulation and cancer
Gene Information Card
| Symbol | USP17L4 |
|---|---|
| Full Name | ubiquitin specific peptidase 17 like family member 4 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.1 (GRCh38) |
| NCBI Gene ID | 124934 ncbi.nlm.nih.gov/gene/124934 |
| Ensembl ID | ENSG00000236358 |
| UniProt ID | Q0WX57 |
| OMIM ID | Not available |
| HGNC ID | 37116 |
| Aliases | USP17L4, USP17L, FLJ43855 |
Description
USP17L4 is a protein-coding gene that encodes a deubiquitinating enzyme belonging to the USP17 family. These enzymes remove ubiquitin from target proteins, thereby regulating protein stability, localization, and activity. USP17L4 is located on chromosome 4p16.1 and is part of a cluster of USP17-like genes. The protein contains a peptidase C19 domain characteristic of ubiquitin-specific proteases. USP17 family members have been implicated in cell cycle progression, apoptosis, and immune responses. USP17L4 is expressed in various tissues and may play a role in cancer, as altered expression of USP17 genes has been observed in several tumor types.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression of USP17 family members may affect cell cycle and apoptosis, contributing to tumorigenesis. | Expression studies in various cancers (e.g., lung, breast) show dysregulation; functional studies indicate role in cell proliferation. |
| Lung cancer | USP17L4 overexpression may promote cell proliferation by deubiquitinating cell cycle regulators. | In vitro studies show increased USP17L4 expression in lung cancer cell lines; knockdown reduces proliferation. |
| Breast cancer | Potential oncogenic role via regulation of apoptosis and cell cycle. | Expression data from cancer cell lines and tissues suggest upregulation in some breast tumors. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lymph node | 8.5 | Low |
| Bone marrow | 6.2 | Low |
| Lung | 4.1 | Low |
| Breast | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 15.2 | High expression |
| MCF7 (breast adenocarcinoma) | 10.5 | Moderate expression |
| HeLa (cervical carcinoma) | 8.7 | Moderate expression |
| K562 (chronic myelogenous leukemia) | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | Rare (not reported in large cohorts) | Potential loss of start codon, may affect translation initiation. |
| c.215C>T (p.Ser72Phe) | Missense | Rare (not reported in large cohorts) | Located in peptidase domain; may affect catalytic activity. |
| c.456_457insA (frameshift) | Insertion | Not reported | Predicted to cause premature stop codon, likely loss of function. |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt the catalytic cysteine or histidine residues in the USP domain would likely abolish deubiquitinase activity, leading to accumulation of ubiquitinated substrates and altered cellular signaling.
Gain of Function (GOF)
Amplification or overexpression of USP17L4 could lead to increased deubiquitination of substrates such as cell cycle regulators, promoting proliferation and survival.
Dominant Negative (DN)
A mutant USP17L4 that binds substrate but cannot cleave ubiquitin might compete with wild-type enzyme, blocking its function and affecting downstream pathways.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • ubiquitin-specific protease activity |
| • proteolysis | • ubiquitin-dependent protein catabolic process |
| • regulation of cell cycle | • apoptotic process |
Pathways
• Ubiquitin-Proteasome Dependent Proteolysis
• Cell Cycle Regulation
• Apoptosis
Protein Summary
USP17L4 is a deubiquitinating enzyme that removes ubiquitin from specific protein substrates, thereby preventing their degradation by the proteasome. It contains a conserved peptidase C19 domain. The protein is localized to the cytoplasm and possibly the nucleus. USP17L4 is involved in regulating cell cycle progression and apoptosis, and its expression is elevated in certain cancers, suggesting a potential oncogenic role. Further studies are needed to identify its specific substrates and clarify its physiological functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP17L4 Knockout HEK293 Cell Line | EDJ-KQ16050 | Human | 645402 | Details Get a Quote |
| USP17L4 Knockout HeLa Cell Line | EDJ-KQ60585 | Human | 645402 | Details Get a Quote |
| USP17L4 Knockout A-549 Cell Line | EDJ-KQ69055 | Human | 645402 | Details Get a Quote |
| USP17L4 Knockout HCT 116 Cell Line | EDJ-KQ77410 | Human | 645402 | Details Get a Quote |
