Pseudouridine synthase 1 (PUS1)

Pseudouridine synthase 1 (PUS1) is an enzyme responsible for the post-transcriptional modification of RNA, specifically catalyzing the isomerization of uridine to pseudouridine (Ψ) in tRNA at positions 38 to 40 and, in some species, in mRNA. PUS1 belongs to the pseudouridine synthase family of enzymes, which play ubiquitous roles in RNA processing and gene expression regulation. This modification affects RNA structure and RNA–protein interactions, impacting translation and cellular function. In humans, defects or mutations in PUS1 cause mitochondrial myopathy and sideroblastic anemia (MLASA), underscoring its essential role in mitochondrial function and erythropoiesis. The enzyme acts independently (as a stand-alone synthase) and utilizes specific sequence and structural motifs within target RNAs for substrate recognition and modification[1][2]. No approved drugs are known to modulate PUS1 directly.

Other names

Pseudouridylate synthase 1 homologPP8985MLASA1tRNA pseudouridine synthase 1tRNA pseudouridine(38-40) synthasetRNA pseudouridylate synthase ItRNA-uridine isomerase Imitochondrial myopathy and sideroblastic anemia 1 proteintRNA pseudouridine synthase Amitochondrial tRNA pseudouridine synthase A

Catalyzes the isomerization of uridine to pseudouridine at specific positions in tRNA and, in some cases, mRNA