USP28 Gene
Ubiquitin Specific Peptidase 28
Gene Information Card
| Symbol | USP28 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 28 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q23.2 |
| NCBI Gene ID | 57646 ncbi.nlm.nih.gov/gene/57646 |
| Ensembl ID | ENSG00000148053 |
| UniProt ID | Q96RU2 |
| OMIM ID | 611148 |
| HGNC ID | 12618 |
| Aliases | KIAA1515, deubiquitinating enzyme 28 |
Description
USP28 (Ubiquitin Specific Peptidase 28) is a deubiquitinating enzyme that removes ubiquitin from specific protein substrates, thereby regulating protein stability and function. It plays a critical role in DNA damage response, cell cycle control, and apoptosis. USP28 stabilizes key proteins such as CHK2, 53BP1, and MYC, and is implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal Cancer | USP28 overexpression stabilizes MYC, promoting proliferation | PMID: 21502514 |
| Breast Cancer | USP28 deubiquitinates and stabilizes CHK2, affecting DNA damage checkpoint | PMID: 17696610 |
| Lung Cancer | USP28 upregulation correlates with poor prognosis; stabilizes 53BP1 | PMID: 21502514 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 9.8 | Medium |
| Spleen | 8.2 | Medium |
| Bone marrow | 7.1 | Low |
| Brain | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.2 | High expression |
| HeLa | 12.0 | Medium expression |
| MCF7 | 10.5 | Medium expression |
| A549 | 9.1 | Medium expression |
| HCT116 | 8.7 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown functional effect |
| c.567delA (p.Lys189fs) | Frameshift | <0.01% | Predicted loss of function |
| c.890G>A (p.Arg297Gln) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.567delA) likely result in truncated, non-functional protein.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in COSMIC or ClinVar.
Dominant Negative (DN)
No evidence for dominant-negative mutations.
View complete mutation data:
Gene Ontology (GO)
| • cysteine-type deubiquitinase activity | • protein deubiquitination |
| • DNA damage response | • cell cycle |
| • apoptotic process | • nucleus |
| • cytoplasm |
Pathways
• DNA damage response (p53/CHK2 pathway)
• MYC stabilization pathway
Protein Summary
USP28 is a 1077-amino acid deubiquitinating enzyme containing an N-terminal ubiquitin-specific protease domain and a C-terminal zinc finger domain. It removes ubiquitin from substrates such as CHK2, 53BP1, and MYC, thereby protecting them from proteasomal degradation. USP28 is essential for the DNA damage checkpoint and is overexpressed in several cancers, where it promotes tumorigenesis by stabilizing oncoproteins.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP28 Knockout HEK293 Cell Line | EDJ-KQ12007 | Human | 57646 | Details Get a Quote |
| USP28 Knockout HCT 116 Cell Line | EDJ-KQ17922 | Human | 57646 | Details Get a Quote |
| USP28 Knockout A-549 Cell Line | EDJ-KQ40593 | Human | 57646 | Details Get a Quote |
| USP28 Knockout HeLa Cell Line | EDJ-KQ40594 | Human | 57646 | Details Get a Quote |