USP25 Gene: Ubiquitin Specific Peptidase 25

A comprehensive biomedical resource on USP25, including genomic data, expression, mutations, and disease associations.

Gene Information Card

Symbol USP25
Full Name Ubiquitin Specific Peptidase 25
Gene Type Protein coding
Chromosomal Location 21q11.2
NCBI Gene ID 29761 ncbi.nlm.nih.gov/gene/29761
Ensembl ID ENSG00000142173
UniProt ID Q9UHP3
OMIM ID 604736
HGNC ID 12625
Aliases USP21, USP25a, USP25b

Description

USP25 (Ubiquitin Specific Peptidase 25) 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. USP25 is involved in immune signaling, inflammation, and cancer. Alternative splicing generates multiple isoforms with distinct functions.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Breast Cancer USP25 overexpression stabilizes oncogenic substrates (e.g., ERα, cyclin D1) via deubiquitination, promoting cell proliferation. PMID: 25609812; COSMIC
Colorectal Cancer USP25 upregulation correlates with poor prognosis; deubiquitinates and stabilizes β-catenin, enhancing Wnt signaling. PMID: 27323853; COSMIC
Inflammatory Bowel Disease USP25 negatively regulates TLR signaling by deubiquitinating TRAF3, reducing pro-inflammatory cytokine production. PMID: 25609812; ClinVar
Alzheimer's Disease USP25 modulates tau protein aggregation via deubiquitination, affecting neurodegeneration pathways. PMID: 30321538; OMIM

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 12.5 Medium
Heart 8.3 Low
Liver 15.7 Medium
Lung 9.1 Low
Kidney 11.2 Medium
Testis 22.4 High
Colon 14.8 Medium
Cell Line Expression
Cell Line nTPM Notes
HEK293 18.5 High expression
HeLa 12.3 Medium expression
MCF7 15.1 Medium expression
HCT116 20.7 High expression
A549 9.8 Low expression
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1123C>T (p.R375W) Missense <0.01% Alters substrate binding; potential loss of function
c.1567G>A (p.V523M) Missense <0.01% Unknown effect; reported in COSMIC
c.2014_2015insA (p.K672fs) Frameshift <0.01% Predicted loss of function via nonsense-mediated decay
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations in USP25 are predicted to cause loss of deubiquitinase activity, impairing regulation of immune signaling and protein turnover.

Gain of Function (GOF)

Missense mutations (e.g., p.R375W) may enhance substrate affinity or alter specificity, potentially leading to oncogenic stabilization of targets.

Dominant Negative (DN)

No dominant-negative mutations have been reported for USP25 in current databases.

Pathways

• Ubiquitin-proteasome pathway (KEGG: hsa04120)
• TNF signaling pathway (KEGG: hsa04668)
• Wnt signaling pathway (KEGG: hsa04310)

Protein Summary

USP25 is a 1055-amino acid deubiquitinating enzyme with an N-terminal ubiquitin-associated (UBA) domain and a C-terminal catalytic USP domain. It cleaves ubiquitin chains from target proteins, regulating their stability and function. USP25 is implicated in immune responses (TLR signaling), cell cycle control, and cancer progression. Isoform-specific functions exist due to alternative splicing.

Related Products

Product name Cat.No. Species Gene ID
USP25 Knockout HEK293 Cell Line EDJ-KQ16075 Human 29761 Details Get a Quote
USP25 Knockout HCT 116 Cell Line EDJ-KQ18080 Human 29761 Details Get a Quote
USP25 Knockout A-549 Cell Line EDJ-KQ47202 Human 29761 Details Get a Quote
USP25 Knockout HeLa Cell Line EDJ-KQ47203 Human 29761 Details Get a Quote
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