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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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USP54
ubiquitin specific peptidase 54
Chromosome 10 · 10q22.2
NCBI Gene: 159195Ensembl: ENSG00000166348.20HGNC: HGNC:23513UniProt: A0A7P0T9K1
68PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cysteine-type deubiquitinase activityprotein bindingK63-linked deubiquitinase activityprotein deubiquitinationatrial fibrillationhypotensionnon-small cell lung carcinomahemoglobin E-beta-thalassemia syndrome
✦AI Summary

USP54 is a ubiquitin-specific peptidase that functions as an active deubiquitinase with high specificity for Lys-63-linked polyubiquitin chains 1. Unlike previously annotated pseudoenzymes, USP54 cleaves within K63-linked ubiquitin chains and requires polyubiquitin chains of at least 3 ubiquitins, recognizing ubiquitin at the S2 position within the chain 1. USP54 mediates deubiquitination of multiple substrates including p53, EGFR, PLK4, and ULK1, thereby regulating their stability and downstream signaling 234. In cancer biology, USP54 exhibits context-dependent roles. USP54 suppression inhibits lung adenocarcinoma progression by reducing p53 ubiquitination and subsequent GLUT1-mediated aerobic glycolysis 2. Similarly, USP54 knockdown enhances gefitinib sensitivity in resistant NSCLC by increasing EGFR ubiquitination and degradation 3. Conversely, USP54 is overexpressed in colorectal cancer stem cells and nasopharyngeal carcinoma, promoting tumorigenesis and malignancy through ULK1 stabilization and autophagy activation 54. USP54 elevation correlates with castration-resistant prostate cancer progression via androgen receptor signaling 6. Additionally, USP54 expression increases with skeletal muscle aging and may influence sarcopenia-associated pathways 7.

Sources cited
1
USP54 is an active deubiquitinase with K63-linkage specificity; requires polyubiquitin chains of ≥3 ubiquitins; recognizes S2 ubiquitin position and cleaves within K63-linked chains
PMID: 39587316
2
USP54 deubiquitinates p53, reducing its ubiquitination-mediated degradation; low USP54 expression correlates with worse LUAD survival; USP54 upregulation suppresses aerobic glycolysis and tumor proliferation
PMID: 38744954
3
USP54 deubiquitinates EGFR; USP54 upregulation reduces EGFR ubiquitination and stabilizes EGFR; USP54 silencing increases EGFR ubiquitination and enhances gefitinib sensitivity in resistant NSCLC
PMID: 40168312
4
USP54 stabilizes ULK1 by reducing its ubiquitination; promotes autophagy and malignancy in nasopharyngeal carcinoma; ULK1-dependent autophagy mediates USP54-driven NPC progression
PMID: 41385776
5
USP54 is overexpressed in colorectal cancer stem cells and human colon cancer; associates with poor prognosis; promotes intestinal tumorigenesis; Usp54 downregulation protects against chemically-induced colorectal carcinoma
PMID: 27769071
6
USP54 is upregulated during HSPC to CRPC progression; correlates with androgen receptor signaling levels; USP54 knockdown suppresses prostate cancer cell proliferation in vitro and in vivo
PMID: 38321455
7
USP54 is significantly upregulated in skeletal muscle of older adults and identified as a gene with strong predictive interaction for muscle aging
PMID: 39210538
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.15Weak
hypotensionOpen Targets
0.10Suggestive
non-small cell lung carcinomaOpen Targets
0.05Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.04Suggestive
posterior cortical atrophyOpen Targets
0.04Suggestive
Aplasia cutis congenita - intestinal lymphangiectasiaOpen Targets
0.04Suggestive
aplasia cutis congenita-intestinal lymphangiectasia syndromeOpen Targets
0.04Suggestive
esophageal varicesOpen Targets
0.04Suggestive
Hemolytic anemia due to red cell pyruvate kinase deficiencyOpen Targets
0.04Suggestive
Rh deficiency syndromeOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
Familial hemophagocytic lymphohistiocytosisOpen Targets
0.04Suggestive
IRIDA syndromeOpen Targets
0.04Suggestive
congenital dyserythropoietic anemia type 4Open Targets
0.04Suggestive
Congenital dyserythropoietic anemia type IVOpen Targets
0.04Suggestive
Adult-onset autosomal recessive sideroblastic anemiaOpen Targets
0.04Suggestive
sideroblastic anemia 3Open Targets
0.04Suggestive
megaloblastic anemia, folate-responsiveOpen Targets
0.04Suggestive
anemia, nonspherocytic hemolytic, due to G6PD deficiencyOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
USP11Shared pathway100%JOSD1Shared pathway100%OTULINLShared pathway100%USP31Shared pathway100%JOSD2Shared pathway100%USP17L23Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
44%
Lung
42%
Ovary
31%
Bone Marrow
13%
Liver
7%
Gene Interaction Network
Click a node to explore
USP54USP11JOSD1OTULINLUSP31JOSD2USP17L23
PROTEIN STRUCTURE
Preparing viewer…
PDB8C61 · 2.50 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.58Moderately Constrained
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.49 [0.41–0.58]
RankingsWhere USP54 stands among ~20K protein-coding genes
  • #6,959of 20,598
    Most Researched68
  • #3,933of 17,882
    Most Constrained (LOEUF)0.58 · top quartile
Genes detectedUSP54
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Ubiquitin-specific protease 54 regulates GLUT1-mediated aerobic glycolysis to inhibit lung adenocarcinoma progression by modifying p53 degradation.
PMID: 38744954
Oncogene · 2024
1.00
2
Discovery and mechanism of K63-linkage-directed deubiquitinase activity in USP53.
PMID: 39587316
Nat Chem Biol · 2025
0.90
3
Deubiquitination of epidermal growth factor receptor by ubiquitin-specific peptidase 54 enhances drug sensitivity to gefitinib in gefitinib-resistant non-small cell lung cancer cells.
PMID: 40168312
PLoS One · 2025
0.80
4
Artificial neural network inference analysis identified novel genes and gene interactions associated with skeletal muscle aging.
PMID: 39210538
J Cachexia Sarcopenia Muscle · 2024
0.70
5
Deubiquitination in cancer stem cells.
PMID: 28198701
Aging (Albany NY) · 2017
0.60