TSBP1 (Testis-Specific Basic Protein 1)
A testis-enriched gene encoding a basic protein with potential roles in spermatogenesis and chromatin organization.
Gene Information Card
| Symbol | TSBP1 |
|---|---|
| Full Name | Testis-Specific Basic Protein 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.32 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000204301 |
| UniProt ID | Q5T5D7 |
| OMIM ID | 616933 |
| HGNC ID | 30678 |
| Aliases | TSBP, TSPY-like 1, TSPYL1 |
Description
TSBP1 (Testis-Specific Basic Protein 1) is a protein-coding gene located on chromosome 6p21.32 within the major histocompatibility complex (MHC) class III region. It encodes a basic protein that is predominantly expressed in testis, particularly in spermatocytes and spermatids. The protein is thought to be involved in chromatin remodeling and spermatogenesis. TSBP1 belongs to the TSPY-like family and may play a role in male fertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Potential role in spermatogenesis; reduced expression may impair sperm development | Limited; inferred from expression pattern and homology to TSPY family (NCBI, UniProt) |
| Testicular germ cell tumors | Possible involvement in testicular cancer due to location in MHC region and expression in testis | Speculative; no direct evidence in COSMIC or ClinVar as of current data |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 25.3 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.6 | Low |
| Thyroid | 0.5 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | High | Enriched in meiotic cells |
| Spermatids | High | Post-meiotic expression |
| Testicular cancer cell lines | Variable | Limited data |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Potential loss of start codon; effect unknown |
| c.123C>T (p.Arg41Trp) | Missense | Rare | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleus (GO:0005634) | • DNA binding (GO:0003677) |
| • chromatin remodeling (GO:0006338) | • spermatogenesis (GO:0007283) |
Pathways
• Not assigned to any specific pathway in Reactome or KEGG
Protein Summary
TSBP1 encodes a 245-amino acid basic protein with a predicted nuclear localization. It contains a TSPY-like domain and is believed to bind DNA and participate in chromatin organization during spermatogenesis. The protein is highly basic (pI ~10.5) and is expressed in the nucleus of testicular germ cells. Its exact molecular function remains under investigation, but it is thought to be involved in the compaction of sperm chromatin.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TSBP1 Knockout HEK293 Cell Line | EDJ-KQ7124 | Human | 10665 | Details Get a Quote |
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