USP13: Ubiquitin Specific Peptidase 13
A deubiquitinating enzyme involved in protein stability, DNA repair, and cancer biology
Gene Information Card
| Symbol | USP13 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q26.2-q26.3 |
| NCBI Gene ID | 8975 ncbi.nlm.nih.gov/gene/8975 |
| Ensembl ID | ENSG00000158023 |
| UniProt ID | Q92995 |
| OMIM ID | 603591 |
| HGNC ID | 12611 |
| Aliases | IsoT-3, ISOT3, USP13 |
Description
USP13 (Ubiquitin Specific Peptidase 13) encodes a deubiquitinating enzyme (DUB) that removes ubiquitin from target proteins, regulating protein stability, localization, and function. It is involved in cellular processes including DNA damage repair, cell cycle control, and autophagy. USP13 has been implicated in various cancers and neurodegenerative diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | USP13 overexpression stabilizes oncoproteins (e.g., PTEN, p53) via deubiquitination, promoting tumor growth | PMID: 25944712 |
| Ovarian cancer | USP13 deubiquitinates and stabilizes the anti-apoptotic protein Bcl-xL, contributing to chemoresistance | PMID: 27559042 |
| Lung cancer | USP13 upregulation correlates with poor prognosis; promotes cell proliferation by deubiquitinating c-Myc | PMID: 29367642 |
| Neurodegenerative disorders | USP13 regulates clearance of misfolded proteins via autophagy; dysregulation linked to Alzheimer's disease | PMID: 30538141 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.3 | Medium |
| Lung | 6.1 | Low |
| Liver | 4.7 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| HeLa | 10.8 | Medium expression |
| MCF7 | 9.4 | Medium expression |
| A549 | 7.1 | Low expression |
| HepG2 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Cys) | Missense | <0.01% | Unknown functional impact; reported in COSMIC |
| c.1789G>A (p.Val597Met) | Missense | <0.01% | Reported in breast cancer samples; potential loss of function |
| c.2041_2042insA (p.Thr681Asnfs*2) | Frameshift | <0.01% | Predicted loss of function; truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of deubiquitinase activity.
Gain of Function (GOF)
Missense mutations in the catalytic domain may alter substrate specificity or increase activity, but evidence is limited.
Dominant Negative (DN)
No dominant negative mutations have been characterized for USP13.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type deubiquitinase activity (GO:0004843) | • ubiquitin-dependent protein catabolic process (GO:0006511) |
| • nucleus (GO:0005634) | • cytoplasm (GO:0005737) |
| • cellular response to DNA damage stimulus (GO:0006974) | • protein deubiquitination (GO:0016579) |
Pathways
• Ubiquitin-proteasome pathway
• DNA damage response (DDR)
• Autophagy-lysosome pathway
• p53 signaling pathway
Protein Summary
USP13 is a 863-amino acid deubiquitinating enzyme with a catalytic domain (peptidase C19) and a ubiquitin-like domain. It cleaves ubiquitin from target proteins, thereby preventing their proteasomal degradation. USP13 regulates key proteins such as PTEN, p53, and Bcl-xL, influencing cell survival, proliferation, and DNA repair. Its expression is elevated in several cancers and it is considered a potential therapeutic target.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP13 Knockout HEK293 Cell Line | EDJ-KQ459 | Human | 8975 | Details Get a Quote |
| USP13 Knockout A-549 Cell Line | EDJ-KQ20096 | Human | 8975 | Details Get a Quote |
| USP13 Knockout HCT 116 Cell Line | EDJ-KQ20098 | Human | 8975 | Details Get a Quote |
| USP13 Knockout HeLa Cell Line | EDJ-KQ20099 | Human | 8975 | Details Get a Quote |
