GTSF1L Gene - Gametocyte Specific Factor 1 Like
A gene encoding a protein involved in gametogenesis and potential roles in fertility and cancer.
Gene Information Card
| Symbol | GTSF1L |
|---|---|
| Full Name | Gametocyte Specific Factor 1 Like |
| Gene Type | Protein coding |
| Chromosomal Location | 20q13.33 |
| NCBI Gene ID | 149465 ncbi.nlm.nih.gov/gene/149465 |
| Ensembl ID | ENSG00000125871 |
| UniProt ID | Q5T8I9 |
| OMIM ID | 617745 |
| HGNC ID | 37232 |
| Aliases | C20orf75, dJ1181N3.1 |
Description
GTSF1L (Gametocyte Specific Factor 1 Like) is a protein-coding gene located on chromosome 20q13.33. It is a member of the gametocyte-specific factor family, with expression predominantly in testis and ovary. The encoded protein is involved in gametogenesis and may play a role in fertility. Limited evidence suggests potential involvement in cancer through altered expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Male infertility | Disrupted gametogenesis due to loss of GTSF1L function | Mouse knockout models show impaired spermatogenesis (PMID: 23451118) |
| Ovarian cancer | Overexpression may contribute to tumorigenesis | RNA-seq data from TCGA shows elevated GTSF1L expression in ovarian tumors (COSMIC) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Ovary | 4.2 | Low |
| Fallopian tube | 1.8 | Low |
| Prostate | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| OVCAR-3 (ovarian cancer) | 8.1 | Elevated expression |
| NTERA-2 (testicular embryonal carcinoma) | 15.3 | High expression |
| HEK293 (embryonic kidney) | 0.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1Val) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.245C>T (p.Pro82Leu) | Missense | <0.01% | Unknown effect, not in ClinVar |
Mutation functional classification
Loss of Function (LOF)
c.1A>G (p.Met1Val) is predicted to abolish translation initiation, leading to loss of protein function.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • spermatogenesis (GO:0007283) | • nucleus (GO:0005634) |
| • molecular_function (not yet assigned) (GO:0003674) |
Pathways
• No specific pathways curated in Reactome or KEGG for GTSF1L.
Protein Summary
The GTSF1L protein (UniProt Q5T8I9) is 210 amino acids long, with a predicted molecular weight of 23.5 kDa. It contains a conserved domain of unknown function (DUF) and is localized to the nucleus. Its exact molecular function remains uncharacterized, but it is essential for normal spermatogenesis in mice.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GTSF1L Knockout HEK293 Cell Line | EDJ-KQ11205 | Human | 149699 | Details Get a Quote |
| GTSF1L Knockout HeLa Cell Line | EDJ-KQ58640 | Human | 149699 | Details Get a Quote |
| GTSF1L Knockout A-549 Cell Line | EDJ-KQ67122 | Human | 149699 | Details Get a Quote |
| GTSF1L Knockout HCT 116 Cell Line | EDJ-KQ75528 | Human | 149699 | Details Get a Quote |
