PUS1

This gene encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. The encoded enzyme may play an essential role in tRNA function and in stabilizing the secondary and tertiary structure of many RNAs. A mutation in this gene has been linked to mitochondrial myopathy and sideroblastic anemia. Alternate splicing results in multiple transcript variants

Full Name

pseudouridylate synthase 1

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).

Biological Process

Mitochondrial tRNA pseudouridine synthesisTAS:Reactome
mRNA processingIEA:UniProtKB-KW
mRNA pseudouridine synthesisManual Assertion Based On ExperimentIDA:UniProtKB
RNA splicingIEA:UniProtKB-KW
tRNA pseudouridine synthesisManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Isoform 1
Mitochondrion
Isoform 2
Nucleus
Cytoplasm

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.