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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
USP26
ubiquitin specific peptidase 26
Chromosome X Β· Xq26.2
NCBI Gene: 83844Ensembl: ENSG00000134588.13HGNC: HGNC:13485UniProt: Q9BXU7
51PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
regulation of androgen receptor signaling pathwaynucleusK48-linked deubiquitinase activitynucleoplasmspermatogenic failure, X-linked, 6non-syndromic male infertility due to sperm motility disordermale infertilityReduced sperm motility
✦AI Summary

USP26 is a deubiquitinase that regulates protein stability through lysine-48-linked deubiquitination 1. In testicular tissue, USP26 localizes primarily to Leydig cell nuclei and colocalizes with androgen receptor, regulating androgen receptor signaling and early spermatogenesis 2. USP26 also stabilizes polycomb repressive complex 1 components (CBX4/CBX6) during somatic cell reprogramming 3. Beyond reproductive function, USP26 has emerged as an oncogenic deubiquitinase in multiple cancer types. In hepatocellular carcinoma, HBV-induced USP26 stabilizes SIRT1 through deubiquitination, promoting proliferation and impairing apoptosis 4. In colorectal cancer, USP26 deubiquitinates PRKN at K129, restraining mitophagy activation and driving tumorigenesis 5. In breast cancer, acetylation-dependent USP26 stabilizes BAG3 co-chaperone, enhancing cell proliferation and metastasis 6. In cervical cancer, USP26 stabilizes the tumor suppressor KLF6, paradoxically inhibiting proliferation and migration 7. Regarding infertility associations, meta-analyses show no significant overall association between common USP26 mutations and male infertility, though specific variants (c.1737G>A, cluster mutations) may have modest roles 89. USP26 represents a clinically relevant therapeutic target across multiple cancer types.

Sources cited
1
USP26 is a deubiquitinase regulating biological processes through lysine-48-linked deubiquitination
PMID: 20501646
2
USP26 stabilizes CBX4 and CBX6 components of polycomb repressive complex 1 during somatic cell reprogramming
PMID: 28839133
3
USP26 localizes to Leydig cell nuclei, colocalizes with androgen receptor, and regulates early spermatogenesis
PMID: 24922532
4
In hepatocellular carcinoma, HBV-induced USP26 stabilizes SIRT1, promoting proliferation and impairing apoptosis
PMID: 39251623
5
In colorectal cancer, USP26 deubiquitinates PRKN at K129, restraining mitophagy and driving tumorigenesis
PMID: 38565942
6
In breast cancer, acetylation-dependent USP26 stabilizes BAG3, enhancing proliferation and metastasis
PMID: 38880224
7
In cervical cancer, USP26 stabilizes KLF6, inhibiting proliferation and migration
PMID: 38064851
8
Meta-analysis shows no significant association between common USP26 mutations and male infertility
PMID: 25755145
9
Specific USP26 mutations (c.1737G>A, cluster mutations) show modest associations with male infertility
PMID: 35074940
Disease Associationsβ“˜21
spermatogenic failure, X-linked, 6Open Targets
0.46Moderate
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.37Weak
male infertilityOpen Targets
0.35Weak
Reduced sperm motilityOpen Targets
0.12Weak
oligospermiaOpen Targets
0.12Weak
Abnormal sperm morphologyOpen Targets
0.12Weak
azoospermiaOpen Targets
0.10Suggestive
hepatocellular carcinomaOpen Targets
0.07Suggestive
Kallmann syndromeOpen Targets
0.07Suggestive
primary ovarian insufficiencyOpen Targets
0.07Suggestive
46,XX gonadal dysgenesisOpen Targets
0.07Suggestive
Isolated follicle stimulating hormone deficiencyOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.06Suggestive
spermatogenic failure 28Open Targets
0.06Suggestive
spermatogenic failure 77Open Targets
0.06Suggestive
spermatogenic failure 96Open Targets
0.06Suggestive
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.06Suggestive
male infertility with teratozoospermia due to single gene mutationOpen Targets
0.06Suggestive
46,XY sex reversal 11Open Targets
0.06Suggestive
Spermatogenic failure, X-linked, 6UniProt
Pathogenic Variants3
NM_031907.3(USP26):c.1205A>C (p.Asn402Thr)Pathogenic
Spermatogenic failure, X-linked, 6|Male infertility
β˜†β˜†β˜†β˜†2024β†’ Residue 402
NM_031907.3(USP26):c.2473C>G (p.Arg825Gly)Pathogenic
Spermatogenic failure, X-linked, 6
β˜†β˜†β˜†β˜†2023β†’ Residue 825
NM_031907.3(USP26):c.2396A>G (p.Asn799Ser)Pathogenic
Spermatogenic failure, X-linked, 6
β˜†β˜†β˜†β˜†2023β†’ Residue 799
View on ClinVar β†—
Related Genes
USP38Shared pathway38%USP9YShared pathway33%USP37Shared pathway33%USP12Shared pathway33%USP48Shared pathway33%USP35Shared pathway33%
Tissue Expression6 tissues
Liver
0%
Brain
0%
Heart
0%
Bone Marrow
0%
Lung
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
USP26USP38USP9YUSP37USP12USP48USP35
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q9BXU7
View on AlphaFold β†—
RankingsWhere USP26 stands among ~20K protein-coding genes
  • #8,753of 20,598
    Most Researched51
  • #4,056of 5,498
    Most Pathogenic Variants3
Genes detectedUSP26
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
USP26 as a hepatitis B virus-induced deubiquitinase primes hepatocellular carcinogenesis by epigenetic remodeling.
PMID: 39251623
Nat Commun Β· 2024
1.00
2
USP26 promotes colorectal cancer tumorigenesis by restraining PRKN-mediated mitophagy.
PMID: 38565942
Oncogene Β· 2024
0.90
3
Evidence from enzymatic and meta-analyses does not support a direct association between USP26 gene variants and male infertility.
PMID: 25755145
Andrology Β· 2015
0.80
4
Acetylation-dependent deubiquitinase USP26 stabilizes BAG3 to promote breast cancer progression.
PMID: 38880224
Cancer Lett Β· 2024
0.70
5
The association between mutations in ubiquitin-specific protease 26 (
PMID: 35074940
Asian J Androl Β· 2022
0.60