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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GTSF1L
gametocyte specific factor 1 like
Chromosome 20 Β· 20q13.12
NCBI Gene: 149699Ensembl: ENSG00000124196.6HGNC: HGNC:16198UniProt: Q9H1H1
4PubMed Papers
16Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingprotein-containing complex bindingAbruptio Placentaepreeclampsiatransient myeloproliferative syndromeneutrophil immunodeficiency syndrome
✦AI Summary

GTSF1L (gametocyte specific factor 1 like) is a protein-coding gene located on chromosome 20 with demonstrated roles in male reproductive biology and transposable element control. Functionally, GTSF1L participates in the piRNA (Piwi-interacting RNA) pathway, a critical system for silencing transposable elements in the germline 1. The gene shows evidence of positive selection during primate evolution, suggesting functional importance in genome defense mechanisms 1. Regarding spermatogenesis, GTSF1L was identified as a hub gene associated with spermatogenesis through bioinformatics analysis of non-obstructive azoospermia (NOA) samples and validated in mouse models of impaired spermatogenesis 2. The gene is significantly upregulated in cases of late maturation arrest during spermatogenesis 3, indicating involvement in this developmental process. Clinically, GTSF1L expression is associated with immune infiltration in cervical cancer, where it was identified as part of a four-gene immune-related signature predicting patient prognosis and immunotherapy response 4. GTSF1L expression decreased with increasing cervical lesion severity, suggesting potential clinical utility as a biomarker 4. These findings position GTSF1L as both a key player in male fertility and a potential therapeutic target for reproductive disorders and certain malignancies.

Sources cited
1
GTSF1L identified as hub gene for spermatogenesis in NOA and validated in mouse models
PMID: 37891374
2
GTSF1L participates in piRNA pathway for transposable element repression and shows positive selection in primates
PMID: 41784387
3
GTSF1L is core gene in immune-related signature for cervical cancer prognosis and immunotherapy prediction
PMID: 34539641
4
GTSF1L is upregulated in late maturation arrest during spermatogenesis
PMID: 24012201
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜16
Abruptio PlacentaeOpen Targets
0.17Weak
preeclampsiaOpen Targets
0.10Suggestive
transient myeloproliferative syndromeOpen Targets
0.06Suggestive
neutrophil immunodeficiency syndromeOpen Targets
0.05Suggestive
neutropenia, severe congenital, 2, autosomal dominantOpen Targets
0.04Suggestive
chronic myelogenous leukemiaOpen Targets
0.03Suggestive
ThrombocytopeniaOpen Targets
0.03Suggestive
thrombocytopenia 2Open Targets
0.03Suggestive
Abnormality of refractionOpen Targets
0.02Suggestive
Precordial painOpen Targets
0.02Suggestive
cervical squamous cell carcinomaOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
carcinomaOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
FSCN3Co-mentioned in literature50%UBQLN3Co-mentioned in literature50%SPATS1Co-mentioned in literature50%
Tissue Expression6 tissues
Liver
0%
Brain
0%
Heart
0%
Lung
0%
Ovary
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
GTSF1LFSCN3UBQLN3SPATS1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9H1H1
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.84LoF Tolerant
pLIβ“˜
0.04Tolerant
Observed/Expected LoF0.96 [0.41–1.84]
RankingsWhere GTSF1L stands among ~20K protein-coding genes
  • #18,582of 20,598
    Most Researched4
  • #16,797of 17,882
    Most Constrained (LOEUF)1.84
Genes detectedGTSF1L
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Identification of hub genes associated with spermatogenesis by bioinformatics analysis.
PMID: 37891374
Sci Rep Β· 2023
1.00
2
Positive Selection Targeted Primate Genes that Encode Transposable Element Repressors.
PMID: 41784387
Genome Biol Evol Β· 2026
0.75
3
Development of a Novel Immune Infiltration-Based Gene Signature to Predict Prognosis and Immunotherapy Response of Patients With Cervical Cancer.
PMID: 34539641
Front Immunol Β· 2021
0.50
4
Potential biomarkers of nonobstructive azoospermia identified in microarray gene expression analysis.
PMID: 24012201
Fertil Steril Β· 2013
0.25