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PUS1 encodes a pseudouridine synthase that converts uridine to pseudouridine once it has been incorporated into an RNA molecule. Additionally we are shipping Pseudouridylate Synthase 1 Antibodies (47) and many more products for this protein.
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Results identify a pseudouridine synthase, mPus1p, as a coactivator for retinoic acid receptor (show RARA Proteins) (mRAR)gamma when coexpressed with steroid receptor (show ESR2 Proteins) RNA activator.
Pus1p- and Pus3p-dependent pseudouridylation of SRA (show MSR1 Proteins) controls a coactivator-corepressor switch in SRA (show MSR1 Proteins) with major consequences for NR signaling.
results show that the NTD of ERalpha (show ESR1 Proteins) and AR contains a novel RBM (show RBMY1A1 Proteins) that directly binds SRA (show SRA1 Proteins), and that STR5 can serve as a novel class of RNA inhibitor of ERalpha (show ESR1 Proteins) and AR signaling by interfering with Pus1p-mediated SRA (show SRA1 Proteins) pseudouridylation
We identified one novel homozygous null mutation in a familial case. It predicts a nonsense mutation at glutamine 154 (Q154X) that would lead to a protein lacking the 266 C-terminal amino acids
Missense mutation in pseudouridine synthase 1 causes mitochondrial myopathy and sideroblastic anemia
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.
pseudouridylate synthase 1
, tRNA pseudouridine synthase A, mitochondrial
, tRNA pseudouridine(38-40) synthase
, tRNA pseudouridylate synthase I
, tRNA-uridine isomerase I
, mitochondrial tRNA pseudouridine synthase A
, tRNA uridine isomerase I
, pseudouridine synthase 1