Pseudouridylate synthase RPUSD4, mitochondrial

Definition:

Catalyzes uridine to pseudouridine isomerization (pseudouridylation) of different mitochondrial RNA substrates. Acts on position 1397 in 16S mitochondrial ribosomal RNA (16S mt-rRNA). This modification is required for the assembly of 16S mt-rRNA into a functional mitochondrial ribosome. As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mt-rRNA, controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation. Acts on position 39 in mitochondrial tRNA(Phe). Also catalyzes pseudouridylation of mRNAs in nucleus: acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions. Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3'-end processing.

References:

[1]. Jason D Arroyo, et al. A Genome-wide CRISPR Death Screen Identifies Genes Essential for Oxidative Phosphorylation. Cell Metab. 2016 Dec 13;24(6):875-885. [Content Brief]

[2]. Hana Antonicka, et al. A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability. EMBO Rep. 2017 Jan;18(1):28-38. [Content Brief]

[3]. Sofia Zaganelli, et al. The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA Granules. J Biol Chem. 2017 Mar 17;292(11):4519-4532. [Content Brief]

[4]. Nicole M Martinez, et al. Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing. Mol Cell. 2022 Feb 3;82(3):645-659.e9. [Content Brief]

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