PUS10
Description
The PUS10 (pseudouridine synthase 10) is a protein-coding gene located on chromosome 2.
PUS10 is a protein that exhibits diverse functionalities depending on its subcellular location. In the cytoplasm, it acts as a tRNA pseudouridylate synthase, catalyzing the formation of pseudouridine(54) and pseudouridine(55) from uracil-54 and uracil-55, respectively, within the psi GC loop of specific tRNAs. This activity is enhanced by the presence of 1-methyladenosine at positions 53-61 within tRNAs. However, PUS10 does not display tRNA pseudouridylate synthase activity in the nucleus. Instead, it functions in the nucleus by promoting the processing of primary microRNAs (pri-miRNAs) independent of its RNA pseudouridylate synthase activity. PUS10 binds to pri-miRNAs and also serves as a modulator of TRAIL/TNFSF10-induced cell death by activating procaspase-8 and cleaving BID. It is essential for the propagation of the apoptotic signal through intrinsic mitochondrial cell death.
PUS10 is also known as CCDC139, DOBI, Hup10.
Associated Diseases
- peroxisome biogenesis disorder 11A (Zellweger)
- multiple sclerosis
- peroxisome biogenesis disorder 1A (Zellweger)
- peroxisome biogenesis disorder 11B
- isolated asymptomatic elevation of creatine phosphokinase
