ADAT1 Human

ADAT1 specifically deaminates adenosine at position 37 to inosine in eukaryotic tRNA, particularly in tRNA-Ala . This modification is essential for the proper functioning of tRNA, as inosine at position 37 is critical for maintaining the correct structure and function of the tRNA molecule . The enzyme’s activity involves site-specific adenosine modification, which is a key process in the pre-mRNA editing of nuclear transcripts .

The ADAT1 gene is located on chromosome 16q23.1 and consists of 9 exons . The gene is highly conserved across species, indicating its essential role in cellular processes. ADAT1 transcripts are found in various human tissues, with the highest expression levels observed in the heart, brain, and pancreas .

The ADAT1 protein shares significant sequence similarity with the yeast protein Tad1p, which also deaminates adenosine to inosine in tRNA . This evolutionary conservation suggests that the function of ADAT1 is critical across different organisms, highlighting its importance in maintaining the integrity of the genetic code during protein synthesis.

Mutations or dysregulation of the ADAT1 gene have been associated with several diseases, including prostate cancer and developmental and epileptic encephalopathy . Understanding the function and regulation of ADAT1 can provide insights into the molecular mechanisms underlying these conditions and potentially lead to the development of targeted therapies.

Recombinant human ADAT1 is used in various research applications to study RNA editing and its implications in health and disease. By using recombinant proteins, researchers can investigate the enzyme’s activity, substrate specificity, and potential inhibitors, which can contribute to the development of novel therapeutic strategies.