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7 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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SPATS1
spermatogenesis associated serine rich 1
Chromosome 6 · 6p21.1
NCBI Gene: 221409Ensembl: ENSG00000249481.8HGNC: HGNC:22957UniProt: Q496A3
7PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingtuberculosisneurodegenerative diseasecardiomyopathyosteoarthritis, hip
✦AI Summary

SPATS1 (spermatogenesis-associated serine-rich 1) is a testis-specific protein with roles in male reproductive biology and potential broader physiological functions. Functionally, SPATS1 acts as a negative regulator of canonical Wnt/β-catenin signaling, interacting with Dishevelled to disrupt the TCF4/β-catenin complex and promote TCF4 degradation through proteasomal pathways 1. In spermatogenesis, SPATS1 is identified as a hub gene associated with this complex developmental process 2. However, despite being differentially expressed during meiotic prophase and suggested as a risk factor for male infertility, CRISPR/Cas9 knockout studies demonstrate that SPATS1 is not individually essential for spermatogenesis or fertility in mice 3. Notably, Wnt pathway target gene expression remains unchanged in SPATS1-deficient mice, suggesting compensatory mechanisms 3. Beyond reproductive function, genome-wide association studies identified SPATS1 as a locus associated with idiopathic sudden sensorineural hearing loss, implicating immune-inflammatory and cellular stress pathways 4. While SPATS1 underexpression has been associated with male infertility and testicular cancer in humans, its actual requirement for normal fertility appears limited, indicating context-dependent or redundant functions in mammalian physiology.

Sources cited
1
SPATS1 knockout mice show no overt phenotype and are fertile with normal spermatogenesis and Wnt pathway gene expression
PMID: 33945571
2
SPATS1 identified as hub gene associated with spermatogenesis in bioinformatics analysis
PMID: 37891374
3
SPATS1 locus associated with idiopathic sudden sensorineural hearing loss in genome-wide association study
PMID: 41751972
4
SPATS1/DDIP acts as negative regulator of canonical Wnt signaling by disrupting TCF4/β-catenin complex and promoting TCF4 degradation
PMID: 20603214
5
SPATS1 up-regulated in men with spermatogenic late maturation arrest and serves as potential biomarker
PMID: 24012201
Disease Associationsⓘ20
tuberculosisOpen Targets
0.27Weak
neurodegenerative diseaseOpen Targets
0.19Weak
cardiomyopathyOpen Targets
0.14Weak
osteoarthritis, hipOpen Targets
0.07Suggestive
osteoarthritisOpen Targets
0.05Suggestive
ossification of the posterior longitudinal ligament of the spineOpen Targets
0.05Suggestive
osteoporosisOpen Targets
0.04Suggestive
sensorineural hearing lossOpen Targets
0.04Suggestive
osteoarthritis, kneeOpen Targets
0.04Suggestive
androgenetic alopeciaOpen Targets
0.04Suggestive
alopeciaOpen Targets
0.04Suggestive
bone diseaseOpen Targets
0.04Suggestive
pulmonary vascular congestionOpen Targets
0.04Suggestive
diffuse idiopathic skeletal hyperostosisOpen Targets
0.04Suggestive
total joint arthroplastyOpen Targets
0.04Suggestive
AscitesOpen Targets
0.04Suggestive
total hip arthroplastyOpen Targets
0.03Suggestive
nervous system diseaseOpen Targets
0.03Suggestive
deficiency anemiaOpen Targets
0.03Suggestive
spinal stenosisOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SPATA3Protein interaction73%GTSF1LCo-mentioned in literature50%FSCN3Co-mentioned in literature40%UBQLN3Co-mentioned in literature29%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
100%
Brain
50%
Liver
0%
Heart
0%
Ovary
0%
Gene Interaction Network
Click a node to explore
SPATS1SPATA3GTSF1LFSCN3UBQLN3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q496A3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.90LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.60 [0.41–0.90]
RankingsWhere SPATS1 stands among ~20K protein-coding genes
  • #17,956of 20,598
    Most Researched7
  • #8,182of 17,882
    Most Constrained (LOEUF)0.90
Genes detectedSPATS1
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
SPATS1 (spermatogenesis-associated, serine-rich 1) is not essential for spermatogenesis and fertility in mouse.
PMID: 33945571
PLoS One · 2021
1.00
2
Identification of hub genes associated with spermatogenesis by bioinformatics analysis.
PMID: 37891374
Sci Rep · 2023
0.86
3
Inflammation and Oxidative-Stress Pathways Are Associated with Idiopathic Sudden Hearing Loss: A Genome-Wide Association Study in 15,494 Japanese Individuals.
PMID: 41751972
Int J Mol Sci · 2026
0.71
4
Potential biomarkers of nonobstructive azoospermia identified in microarray gene expression analysis.
PMID: 24012201
Fertil Steril · 2013
0.57
5
Molecular cloning and primary functional analysis of a novel human testis-specific gene.
PMID: 16011023
Yi Chuan Xue Bao · 2005
0.43