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Target intelligence / Profile preview
Spermatogenesis-associated protein 31 subfamily H member 1 (SPATA31H1)
- Target
- SPATA31H1
- Molecular classification
- Other (protein-coding gene, segmental duplicon, not classified as receptor, enzyme, transporter, transcription factor, or ion channel)
01
Overview
Spermatogenesis-associated protein 31 subfamily H member 1 (SPATA31H1) is a human protein-coding gene found on chromosome 2, encoding a nuclear and exosomal protein. It is a member of the rapidly evolving SPATA31 gene family, originally linked to spermatogenesis, but in humans it has acquired new domains and functions, notably in sensing and repairing UV-induced DNA damage. Overexpression of SPATA31 family members can cause premature cellular senescence by disturbing aging-related pathways, particularly through its involvement in regulated cell cycle and DNA repair. Naturally occurring lower copy numbers of SPATA31 appear to be associated with increased human longevity. While variants in this gene have been implicated in metabolic conditions and are broadly expressed, SPATA31H1 is not currently classified as a therapeutic target, and little is known about its detailed biochemical properties or drug interactions.
- Other names
- SPATA31H1C2orf16DKFZp434G118P-S-E-R-S-H-H-S repeats containingUncharacterized protein C2orf16Spermatogenesis-associated protein 31H1
02
Biological functions
Spermatogenesis (ancestral function)UV-induced DNA damage sensing and repairInvolvement in aging pathways, cellular senescenceRegulation of cell cycle, PI3K-Akt signaling, ECM-receptor interaction
03
Disease associations
Hyperlipoproteinemia, Type VHypobetalipoproteinemia, Familial, 1Experimental links to longevity, cellular aging, and cancer-related pathways
04
Biomarkers
Potential: Copy number variation may serve as a biomarker for longevity/fibroblast senescence in research settings, but not validated for clinical use
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