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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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USP9Y
ubiquitin specific peptidase 9 Y-linked
Chromosome Y · Yq11.221
NCBI Gene: 8287Ensembl: ENSG00000114374.14HGNC: HGNC:12633UniProt: O00507
77PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cysteine-type deubiquitinase activityco-SMAD bindingtransforming growth factor beta receptor signaling pathwayprotein deubiquitinationpartial chromosome Y deletionneurodegenerative diseaseamyotrophic lateral sclerosisataxia telangiectasia
✦AI Summary

USP9Y (ubiquitin-specific peptidase 9, Y-linked) is a deubiquitinase encoded on the Y chromosome Y mediates deubiquitination and stabilization of target proteins 1. The gene encodes a functional protein with sequence constraint indicating evolutionary importance 2. USP9Y plays critical roles in male reproductive function: deletions in the Y chromosome Y region containing USP9Y are associated with varying degrees of spermatogenic dysfunction 3, and whole-genome sequencing has identified USP9Y variants in patients with nonobstructive azoospermia 4. Beyond reproduction, USP9Y demonstrates broader biological significance. In lung cancer, USP9Y functions as a tumor suppressor by stabilizing the RNA helicase DDX3Y through deubiquitination, preventing its proteasomal degradation and suppressing cell proliferation and tumorigenesis 5. USP9Y is also identified as a differentially expressed gene in both Alzheimer's disease and major depressive disorder, suggesting involvement in neuropsychiatric pathways 6. Recent development of USP9Y knockout human embryonic stem cell models 7 provides tools for studying its role in human development and disease. The gene represents a multifunctional regulator of protein stability with implications for male infertility, cancer biology, and neuropsychiatric disorders.

Sources cited
1
USP9Y is a deubiquitinase that mediates deubiquitination and stabilizes target proteins important for male germ cell development
PMID: 12895410
2
USP9Y encodes a functional ubiquitin-specific protease with testis-specific expression and evolutionary constraint on amino acid sequence
PMID: 12925892
3
Deletions of USP9Y in Y chromosome AZF regions are implicated in varying degrees of spermatogenic dysfunction
PMID: 31402110
4
USP9Y variants identified as NOA-associated genes in whole-genome sequencing of nonobstructive azoospermia patients
PMID: 36017582
5
USP9Y stabilizes DDX3Y protein through deubiquitination and acts as a tumor suppressor in lung cancer
PMID: 38217953
6
USP9Y is a differentially expressed gene in both Alzheimer's disease and major depressive disorder in the dorsolateral prefrontal cortex
PMID: 36928034
7
USP9Y knockout human embryonic stem cell line generated using CRISPR-Cas9 for studying gene function and male infertility
PMID: 39742627
Disease Associationsⓘ21
partial chromosome Y deletionOpen Targets
0.39Weak
neurodegenerative diseaseOpen Targets
0.37Weak
amyotrophic lateral sclerosisOpen Targets
0.06Suggestive
ataxia telangiectasiaOpen Targets
0.05Suggestive
breast carcinomaOpen Targets
0.05Suggestive
non-small cell lung carcinomaOpen Targets
0.03Suggestive
multiple sclerosisOpen Targets
0.03Suggestive
myelodysplastic syndromeOpen Targets
0.03Suggestive
azoospermiaOpen Targets
0.03Suggestive
Adams-Oliver syndromeOpen Targets
0.03Suggestive
myeloid sarcomaOpen Targets
0.02Suggestive
infertilityOpen Targets
0.01Suggestive
Sertoli Cell-Only SyndromeOpen Targets
0.01Suggestive
cryptorchidismOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
male infertilityOpen Targets
0.01Suggestive
laryngotracheoesophageal cleftOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
esophageal squamous cell carcinomaOpen Targets
0.01Suggestive
Spermatogenic failure Y-linked 2UniProt
Pathogenic Variants1
NM_004654.4(USP9Y):c.773+3_773+6delPathogenic
Spermatogenic failure, Y-linked, 2
☆☆☆☆1999
View on ClinVar ↗
Related Genes
AMELYProtein interaction100%SRYProtein interaction100%UTYProtein interaction100%ZFXProtein interaction100%ZFYProtein interaction100%KDM5DProtein interaction100%
Tissue Expression6 tissues
Lung
100%
Liver
65%
Bone Marrow
63%
Ovary
0%
Brain
0%
Heart
0%
Gene Interaction Network
Click a node to explore
USP9YAMELYSRYUTYZFXZFYKDM5D
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt O00507
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.00LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.77 [0.60–1.00]
RankingsWhere USP9Y stands among ~20K protein-coding genes
  • #6,226of 20,598
    Most Researched77
  • #4,975of 5,498
    Most Pathogenic Variants1
  • #9,684of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedUSP9Y
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia.
PMID: 36017582
Andrology · 2022
1.00
2
Antioncogenic roles of USP9Y and DDX3Y in lung cancer: USP9Y stabilizes DDX3Y by preventing its degradation through deubiquitination.
PMID: 38217953
Acta Histochem · 2024
0.90
3
Usp9y (ubiquitin-specific protease 9 gene on the Y) is associated with a functional promoter and encodes an intact open reading frame homologous to Usp9x that is under selective constraint.
PMID: 12925892
Mamm Genome · 2003
0.80
4
Sex chromosomes-linked single-gene disorders involved in human infertility.
PMID: 31402110
Eur J Med Genet · 2019
0.70
5
Generation of a USP9Y knockout human embryonic stem cell line with CRISPR-Cas9 technology.
PMID: 39742627
Stem Cell Res · 2025
0.60