USP45 Gene (Ubiquitin Specific Peptidase 45)
A deubiquitinating enzyme involved in DNA repair and cellular homeostasis
Gene Information Card
| Symbol | USP45 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 45 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q14.1 |
| NCBI Gene ID | 84150 ncbi.nlm.nih.gov/gene/84150 |
| Ensembl ID | ENSG00000135929 |
| UniProt ID | Q70EL2 |
| OMIM ID | Not assigned |
| HGNC ID | 20080 |
| Aliases | FLJ12529, MGC138290 |
Description
USP45 (Ubiquitin Specific Peptidase 45) is a protein-coding gene that encodes a deubiquitinating enzyme (DUB) belonging to the ubiquitin-specific protease family. The enzyme removes ubiquitin from target proteins, regulating protein stability, localization, and activity. USP45 is implicated in DNA repair pathways, particularly in the removal of ubiquitin conjugates from chromatin during the DNA damage response. It is widely expressed in various tissues and has been associated with cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Potential role in DNA repair; altered expression may affect genomic stability | COSMIC; literature |
| Colorectal cancer | Mutations and expression changes observed; functional impact under investigation | COSMIC; literature |
| Lung cancer | Somatic mutations reported; possible involvement in tumorigenesis | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Brain | 8.1 | Low |
| Liver | 6.3 | Low |
| Heart | 5.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.0 | High expression |
| HeLa | 12.3 | Medium expression |
| MCF7 | 9.8 | Medium expression |
| A549 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.1% | Unknown; predicted possibly damaging |
| c.567_568del (p.Glu190fs) | Frameshift | <0.01% | Loss of function |
| c.890A>G (p.Asn297Ser) | Missense | <0.1% | Unknown; predicted benign |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations likely lead to loss of deubiquitinase activity, impairing DNA repair.
Gain of Function (GOF)
Not well characterized; no clear gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects currently.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type deubiquitinase activity | • ubiquitin-specific protease activity |
| • DNA repair | • protein deubiquitination |
| • chromatin organization |
Pathways
• Ubiquitin-mediated proteolysis
• DNA damage response
Protein Summary
The USP45 protein is a deubiquitinating enzyme that cleaves ubiquitin from specific substrates. It contains a conserved USP domain responsible for catalytic activity. USP45 is involved in the regulation of DNA repair processes, particularly by removing ubiquitin chains from histones and other chromatin-associated proteins. Its expression is detected in multiple tissues, with highest levels in testis and lymph node. Dysregulation of USP45 has been linked to cancer, though its precise role in tumorigenesis remains under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP45 Knockout HEK293 Cell Line | EDJ-KQ10306 | Human | 85015 | Details Get a Quote |
| USP45 Knockout HCT 116 Cell Line | EDJ-KQ36339 | Human | 85015 | Details Get a Quote |
| USP45 Knockout A-549 Cell Line | EDJ-KQ37591 | Human | 85015 | Details Get a Quote |
| USP45 Knockout HeLa Cell Line | EDJ-KQ37592 | Human | 85015 | Details Get a Quote |
