USP11 Gene - Ubiquitin Specific Peptidase 11
A comprehensive biomedical resource on USP11, covering gene structure, expression, mutations, and clinical significance.
Gene Information Card
| Symbol | USP11 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 11 |
| Gene Type | protein-coding |
| Chromosomal Location | Xp11.3 |
| NCBI Gene ID | 8237 ncbi.nlm.nih.gov/gene/8237 |
| Ensembl ID | ENSG00000165970 |
| UniProt ID | P51784 |
| OMIM ID | 300568 |
| HGNC ID | 12609 |
| Aliases | UBP11, deubiquitinating enzyme 11 |
Description
USP11 (Ubiquitin Specific Peptidase 11) encodes a cysteine protease that functions as a deubiquitinating enzyme. It removes ubiquitin from specific protein substrates, thereby regulating their stability, localization, and activity. USP11 is involved in critical cellular processes including DNA damage repair, cell cycle regulation, and inflammatory signaling. It has been implicated in various cancers and genetic disorders, making it a significant target for biomedical research.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | USP11 regulates the stability of key oncoproteins and tumor suppressors (e.g., p53, BRCA2), influencing tumorigenesis and progression. | COSMIC, PubMed (via NCBI) |
| DNA Repair Deficiencies | USP11 deubiquitinates BRCA2, promoting homologous recombination repair. Dysregulation can lead to genomic instability. | UniProt, PubMed (via NCBI) |
| Inflammatory Diseases | USP11 modulates NF-kB signaling by deubiquitinating pathway components, potentially affecting inflammatory responses. | UniProt, PubMed (via NCBI) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.4 | High |
| Spleen | 18.2 | Medium |
| Lymph Node | 15.7 | Medium |
| Bone Marrow | 14.1 | Medium |
| Brain | 12.3 | Medium |
| Liver | 8.5 | Low |
| Heart | 7.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (Leukemia) | 22.5 | High expression |
| HeLa (Cervical Cancer) | 18.9 | High expression |
| A549 (Lung Cancer) | 15.3 | Medium expression |
| MCF7 (Breast Cancer) | 14.8 | Medium expression |
| HepG2 (Liver Cancer) | 10.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | Rare (<0.01%) | Potential alteration in substrate specificity or catalytic activity. |
| c.567_568insC (p.Gln190ProfsTer23) | Frameshift | Very rare | Predicted to result in a truncated, likely non-functional protein. |
| c.890C>T (p.Pro297Leu) | Missense | Rare (<0.01%) | May affect protein stability or interaction with binding partners. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in USP11, such as frameshift or nonsense variants, are predicted to reduce or abolish its deubiquitinase activity. This can lead to the accumulation of ubiquitinated substrates, disrupting pathways like DNA repair and potentially contributing to genomic instability and cancer predisposition.
Gain of Function (GOF)
Gain-of-function mutations are less well-characterized but could involve changes that increase USP11 catalytic activity or alter its substrate specificity. This might lead to enhanced deubiquitination of oncoproteins, promoting cell proliferation and survival.
Dominant Negative (DN)
A dominant-negative effect could occur if a mutant USP11 protein retains the ability to bind substrates or interaction partners but lacks catalytic activity. This would sequester substrates and prevent the wild-type enzyme from acting, effectively reducing overall USP11 function in the cell.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type deubiquitinase activity | • ubiquitin-specific protease activity |
| • protein deubiquitination | • DNA repair |
| • cellular response to DNA damage stimulus | • regulation of protein stability |
Pathways
• Homologous recombination repair of double-strand breaks
• p53 signaling pathway
• NF-kB signaling pathway
• TNF-alpha signaling pathway
Protein Summary
The USP11 protein is a 963-amino acid deubiquitinase belonging to the ubiquitin-specific protease (USP) family. It contains a conserved catalytic domain (peptidase C19) responsible for cleaving ubiquitin moieties from target proteins. USP11 is predominantly localized in the nucleus but can also be found in the cytoplasm. It interacts with various proteins, including BRCA2, p53, and components of the NF-kB pathway, to regulate their function. Through these interactions, USP11 plays a crucial role in maintaining genomic stability and modulating cellular signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP11 Knockout HEK293 Cell Line | EDJ-KQ2750 | Human | 8237 | Details Get a Quote |
| USP11 Knockout A-549 Cell Line | EDJ-KQ22267 | Human | 8237 | Details Get a Quote |
| USP11 Knockout HCT 116 Cell Line | EDJ-KQ23639 | Human | 8237 | Details Get a Quote |
| USP11 Knockout HeLa Cell Line | EDJ-KQ23640 | Human | 8237 | Details Get a Quote |
