USP17L21: Ubiquitin-Specific Peptidase 17-Like Family Member 21
A deubiquitinase gene in the USP17-like cluster with potential roles in cell proliferation and cancer biology.
Gene Information Card
| Symbol | USP17L21 |
|---|---|
| Full Name | ubiquitin specific peptidase 17 like family member 21 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p16.1 (GRCh38: 4:9,301,000-9,305,000 approx.) |
| NCBI Gene ID | 100287534 ncbi.nlm.nih.gov/gene/100287534 |
| Ensembl ID | ENSG00000235169 |
| UniProt ID | A6NK89 |
| OMIM ID | None assigned |
| HGNC ID | 44468 |
| Aliases | USP17L21, DUB-3-like, USP17-like |
Description
USP17L21 is a member of the USP17-like family of deubiquitinating enzymes, located on chromosome 4p16.1. It encodes a protein with a peptidase C19 domain characteristic of ubiquitin-specific proteases. The gene is part of a cluster of highly similar USP17 paralogs that are often tandemly repeated. USP17L21 is predicted to function in deubiquitination, potentially regulating cell proliferation and apoptosis, similar to other USP17 family members. Its expression is low in most tissues, and its role in disease is not yet fully characterized, but it may be involved in cancer due to its homology to oncogenic USP17 variants.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Potential oncogenic role via deubiquitination of substrates like PCNA or regulation of apoptosis; inferred from USP17 family studies. | Inferred from homology; no direct clinical evidence for USP17L21-specific variants. |
| Lung cancer | USP17 family members are overexpressed in lung cancer and promote cell proliferation; USP17L21 may contribute similarly. | Inferred from family studies; not directly validated for USP17L21. |
| Breast cancer | USP17L21 expression may be altered in breast cancer, but specific data are lacking. | No direct evidence; based on family member USP17. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 0.0 | Not expressed |
| Lung | 0.0 | Not expressed |
| Breast | 0.0 | Not expressed |
| Liver | 0.0 | Not expressed |
| Brain | 0.0 | Not expressed |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 0.0 | No expression detected |
| A549 | 0.0 | No expression detected |
| MCF7 | 0.0 | No expression detected |
| K562 | 0.0 | No expression detected |
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; effect unknown |
| c.100C>T (p.Arg34Trp) | Missense | Not reported | Unknown; may affect protein function |
| c.250G>A (p.Asp84Asn) | Missense | Not reported | Unknown; no clinical significance |
Mutation functional classification
Loss of Function (LOF)
No specific loss-of-function mutations have been reported for USP17L21. However, based on homology, mutations affecting the catalytic cysteine or histidine residues could impair deubiquitinase activity.
Gain of Function (GOF)
No gain-of-function mutations have been described. Overexpression of USP17 family members is associated with oncogenic activity, but specific USP17L21 variants are not documented.
Dominant Negative (DN)
No dominant-negative mutations have been identified for USP17L21.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type peptidase activity | • ubiquitin-specific protease activity |
| • proteolysis | • ubiquitin-dependent protein catabolic process |
| • regulation of cell proliferation |
Pathways
• Ubiquitin-proteasome system
• Deubiquitination
Protein Summary
The USP17L21 protein is a putative deubiquitinase belonging to the USP17 family. It contains a conserved peptidase C19 domain that catalyzes the removal of ubiquitin from target proteins. Although its specific substrates are unknown, it is predicted to regulate cell cycle progression and apoptosis. The protein is likely localized to the cytoplasm or nucleus, but experimental validation is lacking. Due to high sequence similarity with USP17, it may share functional redundancy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP17L21 Knockout HEK293 Cell Line | EDJ-KQ16063 | Human | 100287478 | Details Get a Quote |
| USP17L21 Knockout HeLa Cell Line | EDJ-KQ60866 | Human | 100287478 | Details Get a Quote |
| USP17L21 Knockout A-549 Cell Line | EDJ-KQ69340 | Human | 100287478 | Details Get a Quote |
| USP17L21 Knockout HCT 116 Cell Line | EDJ-KQ77694 | Human | 100287478 | Details Get a Quote |
