======= PUS1 ======= == Gene Information == * **Official Symbol**: PUS1 * **Official Name**: pseudouridine synthase 1 * **Aliases and Previous Symbols**: N/A * **Entrez ID**: [[https://www.ncbi.nlm.nih.gov/gene/?term=80324|80324]] * **UniProt**: [[https://www.uniprot.org/uniprot/Q9Y606|Q9Y606]] * **Interactions**: [[https://thebiogrid.org/search.php?search=PUS1&organism=9606|BioGRID]] * **PubMed articles**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20PUS1|Open PubMed]] * **OMIM**: [[https://omim.org/entry/608109|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}. |PseudoU synth 1| |mitochondrial tRNA pseudouridine synthesis| |steroid receptor RNA activator RNA binding| |tRNA pseudouridine synthase activity| |mRNA pseudouridine synthesis| |tRNA pseudouridine synthesis| |mitochondrial RNA modification| |mitochondrial tRNA modification| |pseudouridine synthase activity| |mitochondrial tRNA processing| |tRNA threonylcarbamoyladenosine metabolic process| |mitochondrial RNA processing| |pseudouridine synthesis| |mRNA modification| |mitochondrial RNA metabolic process| |tRNA binding| |tRNA modification| |tRNA processing| |mitochondrial gene expression| |RNA modification| |tRNA metabolic process| |mitochondrial matrix| |ncRNA processing| |ncRNA metabolic process| |mRNA metabolic process| |RNA processing| |mitochondrion| |RNA binding| |RNA metabolic process| |gene expression| \\ === CRISPR Data === ^Screen^Score^ |[[:results:exp150|SGC0649 7μM R03 exp150]]|-2.16| |[[:results:exp23|Nocodazole 0.02μM R00 exp23]]|-1.8| |[[:results:exp5|Alpha-Amanitin 0.5μM R00 exp5]]|-1.76| |[[:results:exp123|GSK-LSD1 10μM R03 exp123]]|-1.75| |[[:results:exp298|Sucrose 20000μM R06 exp298]]|-1.7| |[[:results:exp179|Combretastatin A4 0.002 to 0.003μM day4 R04 exp179]]|1.73| No correlation found to any other genes in chemogenomics. Global Fraction of Cell Lines Where Essential: 1/739 ^Tissue^Fraction Of Cell Lines Where Essential^ |1290807.0|0/1| |909776.0|0/1| |bile duct|0/28| |blood|0/28| |bone|0/26| |breast|0/33| |central nervous system|0/56| |cervix|0/4| |colorectal|0/17| |esophagus|0/13| |fibroblast|0/1| |gastric|0/16| |kidney|0/21| |liver|0/20| |lung|1/75| |lymphocyte|0/16| |ovary|0/26| |pancreas|0/24| |peripheral nervous system|0/16| |plasma cell|0/15| |prostate|0/1| |skin|0/24| |soft tissue|0/9| |thyroid|0/2| |upper aerodigestive|0/22| |urinary tract|0/29| |uterus|0/5| == Essentiality in NALM6 == * **Essentiality Rank**: 4900 * **Expression level (log2 read counts)**: 6.42 {{:chemogenomics:nalm6 dist.png?nolink |}}