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.

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 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
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