RNA pseudouridine synthase D3 (RPUSD3)

RNA pseudouridine synthase D3 (RPUSD3) is a mitochondrial protein that belongs to the family of RNA pseudouridine synthases, which are enzymes responsible for the post-transcriptional modification of specific uridines into pseudouridines in RNA[1][4]. However, RPUSD3 is distinct within its family because it lacks the conserved catalytic aspartate residue required for enzymatic pseudouridylation activity, suggesting it is not an active pseudouridine synthase[1]. Despite this, RPUSD3 plays a crucial non-catalytic role in mitochondrial RNA metabolism, particularly in the assembly and function of the mitochondrial ribosome, possibly by facilitating proper RNA folding or acting as a structural RNA-binding protein[1][5][3]. Depletion of RPUSD3 results in decreased stability of specific mitochondrial RNAs (including 16S rRNA), impaired mitochondrial protein synthesis, and dysfunctional oxidative phosphorylation, which can compromise cell viability[2][6][3]. RPUSD3 is thus essential for maintaining mitochondrial translation and cellular energy metabolism, but is not currently established as a drug target or clinical biomarker.

Other names

Mitochondrial mRNA pseudouridine synthase RPUSD3MGC29784RNA pseudouridylate synthase domain-containing protein 3RNA pseudouridylate synthase domain containing 3