USP3 Gene: Ubiquitin Specific Peptidase 3

Comprehensive gene card for USP3, a deubiquitinating enzyme involved in DNA damage response and cell cycle regulation.

Gene Information Card

Symbol USP3
Full Name Ubiquitin Specific Peptidase 3
Gene Type Protein coding
Chromosomal Location 15q22.31
NCBI Gene ID 9960 ncbi.nlm.nih.gov/gene/9960
Ensembl ID ENSG00000137807
UniProt ID Q9Y6I4
OMIM ID 604414
HGNC ID 12626
Aliases UBP, UBPY, USP3A, USP3B

Description

USP3 (Ubiquitin Specific Peptidase 3) is a deubiquitinating enzyme that removes ubiquitin from specific protein substrates. It plays a critical role in DNA damage response, cell cycle progression, and chromatin remodeling. USP3 is involved in the deubiquitination of histone H2A and H2B, thereby regulating transcription and genomic stability. Dysregulation of USP3 has been implicated in various cancers and developmental disorders.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (multiple types) USP3 overexpression or mutation leads to altered deubiquitination of cell cycle and DNA repair proteins, promoting tumorigenesis. COSMIC, ClinVar
Developmental disorders USP3 variants may disrupt histone ubiquitination balance, affecting neurodevelopment. ClinVar
Infertility USP3 deficiency impairs spermatogenesis via defective histone-to-protamine exchange. NCBI Gene, UniProt

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 45.2 High
Bone marrow 22.8 Medium
Lymph node 18.5 Medium
Brain 12.1 Low
Liver 8.3 Low
Cell Line Expression
Cell Line nTPM Notes
HEK293 35.6 High expression in embryonic kidney cells
HeLa 28.4 Moderate expression in cervical cancer cells
K562 20.1 Moderate expression in leukemia cells
MCF7 15.3 Low expression in breast cancer cells
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.112C>T (p.Arg38Cys) Missense 0.02% Likely loss of function; reduced deubiquitinase activity
c.457G>A (p.Glu153Lys) Missense 0.01% Unknown significance; reported in COSMIC
c.789_790insA (p.Glu264Argfs*12) Frameshift <0.01% Loss of function; truncation of catalytic domain
Mutation functional classification

Loss of Function (LOF)

Frameshift and nonsense mutations that truncate the catalytic domain lead to loss of deubiquitinase activity.

Gain of Function (GOF)

Not well documented; some missense variants may increase activity but evidence is limited.

Dominant Negative (DN)

No confirmed dominant-negative mutations reported.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/9960
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=USP3

Gene Ontology (GO)

• cysteine-type deubiquitinase activity (GO:0004843) • ubiquitin-dependent protein catabolic process (GO:0006511)
• nucleus (GO:0005634) • nucleoplasm (GO:0005654)
• DNA damage response (GO:0006974) • protein deubiquitination (GO:0016579)

Pathways

• Ubiquitin mediated proteolysis (KEGG: hsa04120)
• DNA damage response (Reactome: R-HSA-73894)
• Chromatin modifying enzymes (Reactome: R-HSA-3247509)

Protein Summary

USP3 encodes a 520-amino acid cysteine protease that specifically cleaves ubiquitin from target proteins. It contains a conserved USP (ubiquitin-specific protease) domain and localizes to the nucleus. USP3 deubiquitinates histone H2A and H2B, influencing chromatin structure and gene expression. It also regulates the stability of key cell cycle proteins such as cyclin A and CDT1. Post-translational modifications include phosphorylation and ubiquitination, which modulate its activity and stability.

Related Services

Knockout Cell Line
Point Mutation Cell Line
Knock-In Cell Line
Overexpression Cell Line
Knockdown Cell Line
Reporter Cell Line
Knock-in Tag
iPSC Gene Editing

Related Products

Product name Cat.No. Species Gene ID
USP32 Knockout HEK293 Cell Line EDJ-KQ2225 Human 84669 Details Get a Quote
USP33 Knockout HEK293 Cell Line EDJ-KQ2412 Human 23032 Details Get a Quote
USP34 Knockout HEK293 Cell Line EDJ-KQ6722 Human 9736 Details Get a Quote
USP3 Knockout HEK293 Cell Line EDJ-KQ6845 Human 9960 Details Get a Quote
USP38 Knockout HEK293 Cell Line EDJ-KQ10144 Human 84640 Details Get a Quote
USP30 Knockout HEK293 Cell Line EDJ-KQ10187 Human 84749 Details Get a Quote
USP31 Knockout HEK293 Cell Line EDJ-KQ16078 Human 57478 Details Get a Quote
USP35 Knockout HEK293 Cell Line EDJ-KQ16079 Human 57558 Details Get a Quote
USP34 Knockout A-549 Cell Line EDJ-KQ31101 Human 9736 Details Get a Quote
USP34 Knockout HCT 116 Cell Line EDJ-KQ31102 Human 9736 Details Get a Quote
USP34 Knockout HeLa Cell Line EDJ-KQ31103 Human 9736 Details Get a Quote
USP38 Knockout HCT 116 Cell Line EDJ-KQ36016 Human 84640 Details Get a Quote
USP31 Knockout A-549 Cell Line EDJ-KQ47207 Human 57478 Details Get a Quote
USP31 Knockout HCT 116 Cell Line EDJ-KQ47208 Human 57478 Details Get a Quote
USP31 Knockout HeLa Cell Line EDJ-KQ47209 Human 57478 Details Get a Quote

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/9960
OMIM https://www.omim.org/entry/604414
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:12626
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000137807
UniProt https://www.uniprot.org/uniprot/Q9Y6I4
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=USP3%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=USP3
Contact Us
*
*
*
How did you hear about us：
✖ service online