RPUSD4


Description

The RPUSD4 (RNA pseudouridine synthase D4) is a protein-coding gene located on chromosome 11.

RPUSD4 catalyzes the conversion of uridine to pseudouridine (pseudouridylation) in various mitochondrial RNA substrates, including 16S mitochondrial ribosomal RNA (mt-rRNA) at position 1397 and mitochondrial tRNA(Phe) at position 39. Pseudouridylation of 16S mt-rRNA is crucial for its assembly into a functional mitochondrial ribosome, while pseudouridylation of tRNA(Phe) is also essential for its function. RPUSD4 is part of a protein-RNA complex that regulates 16S mt-rRNA abundance and intra-mitochondrial translation. In addition to its mitochondrial roles, RPUSD4 also catalyzes pseudouridylation of pre-mRNAs in the nucleus, acting as a regulator of pre-mRNA splicing. Pseudouridylation of pre-mRNAs near splice sites directly influences mRNA splicing and mRNA 3'-end processing.

RPUSD4 is also known as -.

Associated Diseases



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