PUS1, pseudouridine synthase 1

PUS1, pseudouridine synthase 1

• 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.[provided by RefSeq, Sep 2009]

• Gene Synonyms (tRNA pseudouridine synthase A, mitochondrial tRNA pseudouridine synthase A, pseudouridylate synthase 1, tRNA pseudouridine synthase A, mitochondrial, tRNA pseudouridine(38-40) synthase, tRNA pseudouridylate synthase I, tRNA uridine isomerase I, MLASA1,)
• NCBI Gene ID: 80324
• Species: Homo sapiens (Human)
• UNIPROT ID#>>Q9Y606
  UNIPROT ID#>>E5KMT5
  UNIPROT ID#>>E5KMT6
• View the NCBI Database for this Gene »

Gene products are often involved in multiple pathways and networks within a living cell. Learn more about other interacting partners.

pseudouridine synthase 1 interacts with:

• centrosomal protein 19
  glutamyl-tRNA amidotransferase subunit C
  oxidoreductase like domain containing 1
  vacuolar protein sorting 25 homolog

Paste a protein or nucleic acid sequence in the box below to confirm that it matches this gene’s reference sequence(s). Click on a link under RELATED ORF CLONES to see how a sequence matches to an experimentally-validated ORF clone.