tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial (OSGEPL1)

OSGEPL1 (tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial) is an enzyme localized in mitochondria, critical for the post-transcriptional modification of mitochondrial tRNAs by catalyzing the formation of N6-threonylcarbamoyladenosine (t^6A) at adenosine 37 of tRNAs that recognize ANN codons. This modification is required for the maintenance of the fidelity and efficiency of mitochondrial protein synthesis, impacting organellar respiratory function and cell proliferation. OSGEPL1 is the sole catalytic enzyme for mitochondrial t^6A37 modification in humans. Dysregulation or loss of OSGEPL1 is implicated in impaired mitochondrial function, certain rare neurodevelopmental syndromes, and is overexpressed in several cancer types where it promotes tumor proliferation, particularly through cell cycle modulation and the Wnt signaling pathway. OSGEPL1 may serve as a novel diagnostic or prognostic biomarker and represents a potential but as-yet-unexplored therapeutic target in cancer.

Other names

O-sialoglycoprotein endopeptidase like 1OSGEP-like protein 1GCP1Qri7OSGEPLN6-L-threonylcarbamoyladenine synthaset(6)A synthaset(6)A37 threonylcarbamoyladenosine biosynthesis protein OSGEPL1tRNA threonylcarbamoyladenosine biosynthesis protein OSGEPL1probable O-sialoglycoprotein endopeptidase 2probable tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrialprobable tRNA threonylcarbamoyladenosine biosynthesis protein OSGEPL1putative sialoglycoprotease type 2

Not applicable: No drugs directly targeting OSGEPL1 are currently described in the literature; its primary role is as a mitochondrial tRNA modification enzyme