TSPY1: Testis-Specific Y-Encoded Protein 1
A Y-chromosomal gene implicated in spermatogenesis and germ cell tumor susceptibility.
Gene Information Card
| Symbol | TSPY1 |
|---|---|
| Full Name | Testis-Specific Y-Encoded Protein 1 |
| Gene Type | Protein-coding |
| Chromosomal Location | Yp11.2 |
| NCBI Gene ID | 7258 ncbi.nlm.nih.gov/gene/7258 |
| Ensembl ID | ENSG00000205916 |
| UniProt ID | Q01534 |
| OMIM ID | 480100 |
| HGNC ID | 12399 |
| Aliases | TSPY, CT78, DYS14 |
Description
TSPY1 is a Y-chromosomal gene located in the male-specific region of the Y chromosome (MSY). It encodes a testis-specific protein that is expressed predominantly in spermatogonia and is involved in spermatogenesis. TSPY1 is also a cancer/testis antigen and is frequently overexpressed in germ cell tumors, particularly seminomas and gonadoblastomas. The gene is present in multiple copies on the Y chromosome, and its copy number variation has been associated with male infertility and susceptibility to testicular germ cell tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Testicular germ cell tumor (seminoma) | Overexpression of TSPY1 in germ cells promotes proliferation and inhibits apoptosis, contributing to tumorigenesis. | PMID: 12471204; COSMIC |
| Gonadoblastoma | TSPY1 expression in dysgenetic gonads is a marker for gonadoblastoma risk in individuals with disorders of sex development. | PMID: 16951106; OMIM 480100 |
| Male infertility (azoospermia) | Deletion or copy number reduction of TSPY1 on the Y chromosome is associated with impaired spermatogenesis. | PMID: 15086590; NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 156.2 | High |
| Prostate | 0.3 | Not detected |
| Ovary | 0.0 | Not detected |
| Skin | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| NTERA-2 (embryonal carcinoma) | 45.8 | High expression |
| Seminoma cell lines (e.g., TCam-2) | 120.5 | Very high expression |
| HEK293 | 0.0 | No expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; effect unknown |
| Copy number loss (deletion) | Structural variant | Variable | Associated with spermatogenic failure |
| Amplification | Copy number gain | Common in seminoma | Increased TSPY1 expression; oncogenic potential |
Mutation functional classification
Loss of Function (LOF)
Copy number loss or deletion of TSPY1 reduces protein expression, impairing spermatogenesis and contributing to male infertility.
Gain of Function (GOF)
Amplification or overexpression of TSPY1 in germ cells promotes cell proliferation and inhibits apoptosis, driving testicular germ cell tumor development.
Dominant Negative (DN)
No dominant-negative mutations have been reported for TSPY1.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) | • spermatogenesis (GO:0007283) |
| • negative regulation of apoptotic process (GO:0043066) |
Pathways
• PI3K/Akt signaling (via TSPY1 interaction with cyclin B and CDK1)
• p53 pathway modulation (TSPY1 inhibits p53-mediated apoptosis)
Protein Summary
The TSPY1 protein (UniProt Q01534) is a 308-amino acid nuclear and cytoplasmic protein expressed specifically in testicular germ cells. It contains a SET/NAP domain and is involved in cell cycle regulation, particularly in spermatogonial proliferation. TSPY1 interacts with cyclin B and CDK1 to promote G2/M transition and inhibits p53-dependent apoptosis. Overexpression in germ cell tumors contributes to oncogenesis by enhancing proliferation and survival.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSPY10 Knockout HEK293 Cell Line | EDJ-KQ15962 | Human | 100289087 | Details Get a Quote |
| TSPY1 Knockout HEK293 Cell Line | EDJ-KQ50693 | Human | 7258 | Details Get a Quote |
| TSPY1 Knockout HeLa Cell Line | EDJ-KQ54699 | Human | 7258 | Details Get a Quote |
| TSPY10 Knockout HeLa Cell Line | EDJ-KQ60880 | Human | 100289087 | Details Get a Quote |
| TSPY1 Knockout A-549 Cell Line | EDJ-KQ63186 | Human | 7258 | Details Get a Quote |
| TSPY10 Knockout A-549 Cell Line | EDJ-KQ69353 | Human | 100289087 | Details Get a Quote |
| TSPY1 Knockout HCT 116 Cell Line | EDJ-KQ71658 | Human | 7258 | Details Get a Quote |
| TSPY10 Knockout HCT 116 Cell Line | EDJ-KQ77707 | Human | 100289087 | Details Get a Quote |
