4 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingcytoplasmperinuclear region of cytoplasmFamilial prostate cancerprostate cancerazoospermiaspermatogenic failure 55
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.
1
TSNAXIP1 is required for sperm head formation, proper morphogenesis of sperm neck, and male fertility in mice
PMID: 373891562
TSNAXIP1 is a testis-expressed TRAX-interacting protein that colocalizes with TRAX at perinuclear organelles during spermatogenesis
PMID: 120362943
TSNAXIP1 is located in a chromosome 16 gene cluster showing multivariate gene-environment interaction with polysubstance dependence and suicidal ideation
PMID: 334318104
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.
Familial prostate cancerOpen Targets
prostate cancerOpen Targets
spermatogenic failure 3Open Targets
spermatogenic failure 55Open Targets
spermatogenic failure 83Open Targets
spermatogenic failure 7Open Targets
spermatogenic failure 16Open Targets
spermatogenic failure 21Open Targets
spermatogenic failure 29Open Targets
spermatogenic failure 79Open Targets
spermatogenic failure 58Open Targets
spermatogenic failure 10Open Targets
spermatogenic failure 11Open Targets
spermatogenic failure, X-linked, 5Open Targets
spermatogenic failure 19Open Targets
spermatogenic failure 43Open Targets
spermatogenic failure 45Open Targets
spermatogenic failure 49Open Targets
spermatogenic failure 82Open Targets
No pathogenic variants reported on ClinVar for this gene.