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4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TSNAXIP1
translin associated factor X interacting protein 1
Chromosome 16 · 16q22.1
NCBI Gene: 55815Ensembl: ENSG00000102904.15HGNC: HGNC:18586UniProt: B4DXD0
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytoplasmperinuclear region of cytoplasmFamilial prostate cancerprostate cancerazoospermiaspermatogenic failure 55
✦AI Summary

TSNAXIP1 (translin associated factor X interacting protein 1) is a testis-expressed protein that plays a critical role in male fertility and spermatogenesis. Located on chromosome 16, TSNAXIP1 functions as a binding partner of TRAX (translin-associated factor X) in the cytoplasm 1. The protein colocalizes with TRAX at perinuclear organelles during germ cell development 1. TSNAXIP1 is essential for proper sperm head morphogenesis and male fertility; knockout mice demonstrate reduced testis size, lower sperm counts, and characteristic sperm head malformations including abnormal flower-shaped head morphology and defective neck anchorage 2. TSNAXIP1 is highly conserved between mouse and human, suggesting relevance to human infertility 2. Beyond reproductive function, TSNAXIP1 has been implicated in psychiatric genetics—a gene cluster on chromosome 16 containing TSNAXIP1 showed significant multivariate gene-environment interactions with polysubstance dependence and suicidal ideation (p = 2.13 × 10-7) 3. These findings establish TSNAXIP1 as a potential causative gene for human male infertility and suggest broader biological roles in cellular processes.

Sources cited
1
TSNAXIP1 is required for sperm head formation, proper morphogenesis of sperm neck, and male fertility in mice
PMID: 37389156
2
TSNAXIP1 is a testis-expressed TRAX-interacting protein that colocalizes with TRAX at perinuclear organelles during spermatogenesis
PMID: 12036294
3
TSNAXIP1 is located in a chromosome 16 gene cluster showing multivariate gene-environment interaction with polysubstance dependence and suicidal ideation
PMID: 33431810
4
TRAX (the binding partner of TSNAXIP1) is essential for cellular proliferation
PMID: 15474041
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Familial prostate cancerOpen Targets
0.11Weak
prostate cancerOpen Targets
0.11Weak
azoospermiaOpen Targets
0.08Suggestive
spermatogenic failure 3Open Targets
0.06Suggestive
spermatogenic failure 55Open Targets
0.06Suggestive
spermatogenic failure 83Open Targets
0.06Suggestive
spermatogenic failure 7Open Targets
0.06Suggestive
spermatogenic failure 16Open Targets
0.06Suggestive
spermatogenic failure 21Open Targets
0.06Suggestive
spermatogenic failure 29Open Targets
0.06Suggestive
spermatogenic failure 79Open Targets
0.06Suggestive
spermatogenic failure 58Open Targets
0.06Suggestive
spermatogenic failure 10Open Targets
0.06Suggestive
spermatogenic failure 11Open Targets
0.06Suggestive
spermatogenic failure, X-linked, 5Open Targets
0.05Suggestive
spermatogenic failure 19Open Targets
0.05Suggestive
spermatogenic failure 43Open Targets
0.05Suggestive
spermatogenic failure 45Open Targets
0.05Suggestive
spermatogenic failure 49Open Targets
0.05Suggestive
spermatogenic failure 82Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TSNAXProtein interaction88%
Tissue Expression6 tissues
Ovary
100%
Liver
69%
Bone Marrow
62%
Brain
21%
Lung
20%
Heart
18%
Gene Interaction Network
Click a node to explore
TSNAXIP1TSNAX
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q2TAA8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.23LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.03 [0.86–1.23]
RankingsWhere TSNAXIP1 stands among ~20K protein-coding genes
  • #14,854of 20,598
    Most Researched18
  • #12,922of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedTSNAXIP1
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Multi-environment gene interactions linked to the interplay between polysubstance dependence and suicidality.
PMID: 33431810
Transl Psychiatry · 2021
1.00
2
Identification and characterization of cDNAs encoding four novel proteins that interact with translin associated factor-X.
PMID: 12036294
Genomics · 2002
0.75
3
TSNAXIP1 is required for sperm head formation and male fertility.
PMID: 37389156
Reprod Med Biol · 2023
0.50
4
Translin associated protein X is essential for cellular proliferation.
PMID: 15474041
FEBS Lett · 2004
0.25