PUS1
Gene Information
- Official Symbol: PUS1
- Official Name: pseudouridine synthase 1
- Aliases and Previous Symbols: N/A
- Entrez ID: 80324
- UniProt: Q9Y606
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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].
- UniProt Summary: 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). {ECO:0000250}.
CRISPR Data
Essentiality in NALM6
- Essentiality Rank: 4900
- Expression level (log2 read counts): 6.42
PUS1 Expression in NALM6 Cells: 6.42
