GTSF1
Gametocyte Specific Factor 1
Gene Information Card
| Symbol | GTSF1 |
|---|---|
| Full Name | Gametocyte Specific Factor 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q13.13 |
| NCBI Gene ID | 121457 ncbi.nlm.nih.gov/gene/121457 |
| Ensembl ID | ENSG00000174498 |
| UniProt ID | Q8WUQ7 |
| OMIM ID | 611689 |
| HGNC ID | 24827 |
| Aliases | C12orf24, FLJ13204, dJ402H5.2 |
Description
GTSF1 (Gametocyte Specific Factor 1) is a protein-coding gene located on chromosome 12q13.13. It encodes a C2H2-type zinc finger protein that is predominantly expressed in the testis, specifically in spermatocytes and spermatids. GTSF1 is essential for male germ cell development and spermatogenesis. Mutations in GTSF1 have been associated with spermatogenic failure and male infertility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spermatogenic failure 8 (SPGF8) | Loss-of-function mutations in GTSF1 disrupt spermatogenesis, leading to non-obstructive azoospermia | OMIM #611689; ClinVar |
| Male infertility | Defects in GTSF1 impair germ cell maturation and sperm production | OMIM; PubMed studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 45.2 | High |
| Fallopian tube | 0.8 | Low |
| Prostate | 0.5 | Low |
| Other tissues | <0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Spermatocytes | High | Enriched in meiotic germ cells |
| Spermatids | High | Post-meiotic expression |
| Sertoli cells | Not detected | Somatic cell negative |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, no protein produced |
| c.154C>T (p.Arg52*) | Nonsense | Rare | Premature stop, loss of function |
| c.331G>A (p.Gly111Arg) | Missense | Rare | Impaired zinc finger domain |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent GTSF1 protein, causing spermatogenic failure.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • nucleic acid binding (GO:0003676) | • nucleus (GO:0005634) |
| • spermatogenesis (GO:0007283) | • metal ion binding (GO:0046872) |
| • zinc ion binding (GO:0008270) |
Pathways
• Spermatogenesis (Reactome: R-HSA-418457)
Protein Summary
GTSF1 is a 247-amino acid protein containing a single C2H2-type zinc finger domain. It localizes to the nucleus and is thought to regulate gene expression during male germ cell development. The protein is highly conserved in mammals and is essential for the progression of meiosis and spermatid maturation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GTSF1 Knockout HEK293 Cell Line | EDJ-KQ7969 | Human | 121355 | Details Get a Quote |
| GTSF1L Knockout HEK293 Cell Line | EDJ-KQ11205 | Human | 149699 | Details Get a Quote |
| GTSF1 Knockout HCT 116 Cell Line | EDJ-KQ33668 | Human | 121355 | Details Get a Quote |
| GTSF1 Knockout HeLa Cell Line | EDJ-KQ58083 | Human | 121355 | Details Get a Quote |
| GTSF1L Knockout HeLa Cell Line | EDJ-KQ58640 | Human | 149699 | Details Get a Quote |
| GTSF1 Knockout A-549 Cell Line | EDJ-KQ66570 | Human | 121355 | 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 |
