PUS1
Function
Pseudouridylate synthase that catalyzes pseudouridylation of tRNAs and mRNAs (PubMed:15772074, PubMed:24722331). Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA (PubMed:24722331). Also catalyzes pseudouridylation of mRNAs: mediates pseudouridylation of mRNAs with the consensus sequence 5'-UGUAG-3' (PubMed:31477916, PubMed:35051350). Acts as a regulator of pre-mRNA splicing by mediating pseudouridylation of pre-mRNAs at locations associated with alternatively spliced regions (PubMed:35051350). Pseudouridylation of pre-mRNAs near splice sites directly regulates mRNA splicing and mRNA 3'-end processing (PubMed:35051350). Involved in regulation of nuclear receptor activity through pseudouridylation of SRA1 mRNA (PubMed:24722331).
Involvement in disease
Myopathy with lactic acidosis and sideroblastic anemia 1
MLASA1
A rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest progressive muscle weakness, exercise intolerance, lactic acidosis, sideroblastic anemia and delayed growth.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the tRNA pseudouridine synthase TruA family.
Tissue Specificity
Widely expressed (PubMed:15108122). High levels of expression found in brain and skeletal muscle (PubMed:15108122).
Cellular localization
- Isoform 1
- Mitochondrion
- Isoform 2
- Nucleus
- Cytoplasm
Alternative names
PP8985, PUS1, Pseudouridylate synthase 1 homolog, tRNA pseudouridine synthase 1, tRNA pseudouridine(38-40) synthase, tRNA pseudouridylate synthase I, tRNA-uridine isomerase I