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

WES Whole Exome Sequencing

Clinical Exome Sequencing