USP26 Gene: Ubiquitin Specific Peptidase 26
A testis-specific deubiquitinating enzyme involved in spermatogenesis and male infertility
Gene Information Card
| Symbol | USP26 |
|---|---|
| Full Name | Ubiquitin Specific Peptidase 26 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq26.2 |
| NCBI Gene ID | 83844 ncbi.nlm.nih.gov/gene/83844 |
| Ensembl ID | ENSG00000101974 |
| UniProt ID | Q9BXU7 |
| OMIM ID | 300309 |
| HGNC ID | 13485 |
| Aliases | UBP26, USP21L, USP26L |
Description
USP26 (Ubiquitin Specific Peptidase 26) is a deubiquitinating enzyme encoded by a gene on the X chromosome. It is predominantly expressed in the testis and plays a critical role in spermatogenesis by removing ubiquitin from specific protein substrates, thereby regulating protein stability and degradation. Mutations in USP26 have been associated with male infertility, including Sertoli cell-only syndrome and spermatogenic failure.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility (spermatogenic failure) | Loss-of-function mutations impair deubiquitinating activity, disrupting spermatogenesis | PMID: 17371979, ClinVar |
| Sertoli cell-only syndrome | Missense mutations (e.g., p.Pro904Ser) reduce enzyme activity, leading to absence of germ cells | PMID: 17371979, OMIM 300309 |
| Non-obstructive azoospermia | USP26 variants identified in patients with complete absence of sperm | ClinVar, COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 27.5 | High |
| Prostate | 0.8 | Low |
| Fallopian tube | 0.5 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (testicular embryonal carcinoma) | 12.3 | Moderate expression |
| HeLa (cervical) | 0.2 | Very low |
| HEK293 (embryonic kidney) | 0.1 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2710C>T (p.Pro904Ser) | Missense | ~1% in infertile males | Reduced deubiquitinase activity; associated with Sertoli cell-only syndrome |
| c.1737G>A (p.Trp579Ter) | Nonsense | Rare | Premature truncation; loss of function |
| c.2041_2042delAG (p.Arg681GlufsTer2) | Frameshift | Rare | Loss of catalytic domain; severe spermatogenic failure |
Mutation functional classification
Loss of Function (LOF)
Missense (e.g., p.Pro904Ser) and truncating mutations reduce or abolish deubiquitinating activity, impairing spermatogenesis.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; X-linked hemizygous mutations act recessively in males.
View complete mutation data：
Gene Ontology (GO)
| • cysteine-type deubiquitinase activity | • proteolysis |
| • ubiquitin-dependent protein catabolic process | • spermatogenesis |
| • nucleus | • cytoplasm |
Pathways
• Ubiquitin-proteasome pathway
• Deubiquitination
Protein Summary
USP26 is a 913-amino acid deubiquitinating enzyme containing a catalytic ubiquitin-specific protease (USP) domain. It removes ubiquitin from target proteins, preventing their proteasomal degradation. The protein is localized to the nucleus and cytoplasm of testicular germ cells. Its activity is essential for proper progression of spermatogenesis, and loss-of-function mutations lead to male infertility.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| USP26 Knockout HEK293 Cell Line | EDJ-KQ2375 | Human | 83844 | Details Get a Quote |
| DUSP26 Knockout HEK293 Cell Line | EDJ-KQ13228 | Human | 78986 | Details Get a Quote |
| USP26 Knockout HeLa Cell Line | EDJ-KQ57481 | Human | 83844 | Details Get a Quote |
| USP26 Knockout A-549 Cell Line | EDJ-KQ65983 | Human | 83844 | Details Get a Quote |
| USP26 Knockout HCT 116 Cell Line | EDJ-KQ74406 | Human | 83844 | Details Get a Quote |
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