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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 Proteins (5) and many more products for this protein.
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Human Polyclonal PUS1 Primary Antibody for EIA, IHC (p) - ABIN954388
Bergmann, Campagna, McLoughlin, Agarwal, Fleming, Bottomley, Neufeld: Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. in Pediatric blood & cancer 2009
Show all 4 references for 954388
Human Polyclonal PUS1 Primary Antibody for WB - ABIN2780021
Zhao, Patton, Davis, Florence, Ames, Spanjaard: Regulation of nuclear receptor activity by a pseudouridine synthase through posttranscriptional modification of steroid receptor RNA activator. in Molecular cell 2004
Results identify a pseudouridine synthase, mPus1p, as a coactivator for retinoic acid receptor (show RARA Antibodies) (mRAR)gamma when coexpressed with steroid receptor (show ESR2 Antibodies) RNA activator.
Pus1p- and Pus3p-dependent pseudouridylation of SRA (show MSR1 Antibodies) controls a coactivator-corepressor switch in SRA (show MSR1 Antibodies) with major consequences for NR signaling.
results show that the NTD of ERalpha (show ESR1 Antibodies) and AR contains a novel RBM (show RBMY1A1 Antibodies) that directly binds SRA (show SRA1 Antibodies), and that STR5 can serve as a novel class of RNA inhibitor of ERalpha (show ESR1 Antibodies) and AR signaling by interfering with Pus1p-mediated SRA (show SRA1 Antibodies) pseudouridylation
We identified one novel homozygous null mutation in a familial case. It predicts a nonsense mutation at glutamine (show GFPT1 Antibodies) 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