MGSSHHHHHH SSGLVPRGSH MGSMPKNKGK GGKNRRRGKN ENESEKRELV FKEDGQEYAQ VIKMLGNGRL EALCFDGVKR LCHIRGKLRK KVWINTSDII LVGLRDYQDN KADVILKYNA DEARSLKAYG ELPEHAKINE TDTFGPGDDD EIQFDDIGDD DEDIDDI.
EIF1AY is involved in the formation of the 43S pre-initiation complex (43S PIC), which binds to the mRNA cap-proximal region, scans the mRNA 5’-untranslated region, and locates the initiation codon . This protein enhances the formation of the cap-proximal complex and, together with EIF1, facilitates scanning, start codon recognition, and the promotion of the assembly of the 48S complex at the initiation codon .
The gene is expressed in various tissues, with notable expression in the testis, which is consistent with its location on the Y chromosome . Alternative splicing of this gene results in multiple transcript variants, indicating a complex regulation of its expression .
EIF1AY is predominantly expressed in male-specific tissues due to its location on the Y chromosome. This includes high expression levels in the testis, which is essential for male fertility and spermatogenesis . The gene’s expression in other tissues is relatively low, reflecting its specialized role in male reproductive biology.
The primary function of EIF1AY is to stabilize the binding of the initiator methionine-tRNA (Met-tRNA) to the 40S ribosomal subunits during the initiation of translation . This stabilization is crucial for the accurate and efficient initiation of protein synthesis. EIF1AY, along with EIF1, facilitates the scanning of the mRNA for the start codon and the assembly of the 48S complex at the initiation codon .
After the start codon is located, EIF1AY, together with EIF5B, orients the initiator Met-tRNA in a conformation that allows the joining of the 60S ribosomal subunit to form the 80S initiation complex . EIF1AY is released after the formation of the 80S initiation complex, just after GTP hydrolysis by EIF5B, and before the release of EIF5B .
The regulation of EIF1AY involves alternative splicing, which results in multiple transcript variants . This suggests that the gene’s expression and function can be finely tuned in response to different cellular conditions. Additionally, the gene’s expression is likely regulated by factors that control Y chromosome-specific gene expression, although the precise mechanisms remain to be fully elucidated.
Mutations or dysregulation of EIF1AY have been associated with various disorders, including optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy . These associations highlight the importance of EIF1AY in normal cellular function and its potential role in disease.