Aliases for PUS1 Gene
External Ids for PUS1 Gene
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]
GeneCards Summary for PUS1 Gene
PUS1 (Pseudouridylate Synthase 1) is a Protein Coding gene. Diseases associated with PUS1 include mitochondrial myopathy and sideroblastic anemia 1 and sideroblastic anemia. GO annotations related to this gene include RNA binding and pseudouridine synthase activity.
UniProtKB/Swiss-Prot for PUS1 Gene
Converts specific uridines to PSI in a number of tRNA substrates. Acts on positions 27/28 in the anticodon stem and also positions 34 and 36 in the anticodon of an intron containing tRNA. Involved in regulation of nuclear receptor activity possibly through pseudouridylation of SRA1 RNA (By similarity).