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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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TSPY1
testis specific protein Y-linked 1
Chromosome Y · Yp11.2
NCBI Gene: 7258Ensembl: ENSG00000258992.7HGNC: HGNC:12381UniProt: Q01534
63PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingchromatinhistone bindingnucleuspartial chromosome Y deletionneurodegenerative diseasehepatocellular carcinomaneoplasm
✦AI Summary

TSPY1 (testis-specific protein Y-linked 1) is a Y chrY-encoded gene with critical roles in male reproduction and potential involvement in cancer development. Structurally, TSPY1 exists in multiple copies organized as tandem repeats in the male-specific region of the Y chrY, with the complete ampliconic structure now characterized in the finished human Y chromosome Y 1. Mechanistically, TSPY1 promotes spermatogonial proliferation by suppressing p53 function through interaction with USP7 and TSPYL5, thereby facilitating G2/M phase transition and reducing cell apoptosis 2. This mechanism is conserved in mice, where TSPYL5 (the autosomal TSPY1 homolog) promotes spermatogonia proliferation via PCNA-mediated DNA replication and p53 degradation 3. Clinically, TSPY1 mutations are associated with male infertility and spermatogenic failure 4, while TSPY1 expression is nearly ubiquitous in individuals with Y chromosome Y and gonadoblastoma, an in situ germ cell neoplasm 5. Beyond reproduction, TSPY1 positively correlates with androgen receptor expression in hepatocellular carcinoma through MAPK/ERK pathway activation 6. Overall, TSPY1 functions as a critical regulator of germ cell proliferation with emerging roles in oncogenic transformation.

Sources cited
1
Complete Y chromosome sequence now reveals full ampliconic structure of TSPY gene family
PMID: 37612512
2
TSPY1 is major candidate gene for gonadoblastoma and plays role in spermatogenesis
PMID: 25297590
3
TSPY1 expression in gonads with Y chromosome material and germ cells with delayed maturation leads to gonadoblastoma development
PMID: 31805291
4
Novel TSPY1 mutations associated with spermatogenic failure and male infertility
PMID: 35041134
5
TSPY1 gene array on Yp has potential effect on germ cell proliferation and Y-linked male fertility
PMID: 28456834
6
TSPYL5 deficiency impairs spermatogonia proliferation through downregulation of PCNA-mediated DNA replication and p53 degradation
PMID: 38185096
7
TSPY1 suppresses USP7-mediated p53 function to promote spermatogonial proliferation and G2/M transition
PMID: 29748603
8
TSPY1 regulates androgen receptor expression through MAPK/ERK pathway in hepatocellular carcinoma
PMID: 36261201
Disease Associationsⓘ20
partial chromosome Y deletionOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.22Weak
hepatocellular carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.10Suggestive
prostate cancerOpen Targets
0.09Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
cancerOpen Targets
0.05Suggestive
lung adenocarcinomaOpen Targets
0.04Suggestive
gonadoblastomaOpen Targets
0.03Suggestive
Testicular Germ Cell TumorOpen Targets
0.03Suggestive
prostate neoplasmOpen Targets
0.02Suggestive
germ cell tumorOpen Targets
0.02Suggestive
disorder of sexual differentiationOpen Targets
0.02Suggestive
dysgerminomaOpen Targets
0.01Suggestive
male infertilityOpen Targets
0.01Suggestive
adenocarcinomaOpen Targets
0.01Suggestive
infertilityOpen Targets
0.01Suggestive
liver cancerOpen Targets
0.01Suggestive
melanomaOpen Targets
0.01Suggestive
Guillain-Barre syndromeOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
BPY2Protein interaction95%CDY2AProtein interaction93%PCDH11YProtein interaction92%CDY1Protein interaction92%CDY2BProtein interaction92%TBL1YProtein interaction90%
Tissue Expression6 tissues
Liver
0%
Brain
0%
Ovary
0%
Heart
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TSPY1BPY2CDY2APCDH11YCDY1CDY2BTBL1Y
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q01534
View on AlphaFold ↗
RankingsWhere TSPY1 stands among ~20K protein-coding genes
  • #7,422of 20,598
    Most Researched63
Genes detectedTSPY1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The complete sequence of a human Y chromosome.
PMID: 37612512
Nature · 2023
1.00
2
[Research progress of TSPY1 gene family].
PMID: 25297590
Zhonghua Yi Xue Yi Chuan Xue Za Zhi · 2014
0.90
3
Gonadoblastoma: origin and outcome.
PMID: 31805291
Hum Pathol · 2020
0.80
4
Novel Mutations of TSPY1 Gene Associate Spermatogenic Failure Among Men.
PMID: 35041134
Reprod Sci · 2022
0.70
5
Spermatogenic failure and the Y chromosome.
PMID: 28456834
Hum Genet · 2017
0.60