EC Number   |
General Information |
Reference |
|---|
   5.4.99.B22 | evolution |
eukaryal Pus10 genes share a conserved catalytic domain with archaeal Pus10 genes. Pus10 is found in earlier evolutionary branches of fungi (such as chytrid Batrachochytrium) but is absent in all dikaryon fungi surveyed (Ascomycetes and Basidiomycetes). Orthologs of Pus10, TrmA, and TruB are present in all the animals, plants, and protozoa surveyed. This indicates that the common eukaryotic ancestor possesses all the three genes. Pus10 exists as a single copy gene in all the surveyed genomes despite ancestral whole genome duplications has occurred. This indicates a possible deleterious gene dosage effect. Functional redundancy results in gene loss or neofunctionalization in different evolutionary lineages |
748425 |
| 5.4.99.B22 | evolution |
Pus1p is a member of the TruA pseudouridine synthase family |
-, 749279 |
| 5.4.99.B22 | malfunction |
depletion of RPUSD4 leads to a severe reduction of the steady-state level of the 16S mitochondrial rRNA with defects in the biogenesis of the mitoribosome large subunit and consequently in mitochondrial translation |
748225 |
| 5.4.99.B22 | malfunction |
in mutant worms, the absence of Pus1p activity on tRNAs has no effect on U2 snRNA modification |
749279 |
| 5.4.99.B22 | malfunction |
missense mutation in PUS1 causes mitochondrial myopathy and sideroblastic anemia (a rare, autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow) |
660654 |
| 5.4.99.B22 | malfunction |
PUS1 gene disruption mutants of Toxoplasma gondii are defective in differentiation from tachyzoites to bradyzoites. Pseudouridylation of the 5'-UTR and coding regions has a modest effect on steady-state mRNA levels, and the mRNA stability is modestly affected by TgPUS1-dependent pseudouridylation |
749280 |
| 5.4.99.B22 | malfunction |
the disruption of the Pus1 gene confers no obvious phenotype |
5855 |
| 5.4.99.B22 | malfunction |
U2 snRNAs from Pus1 knockout mice show no changes in their modification patterns when compared to wild-type U2 snRNAs. In Pus1-knockout mice, Pus1p-dependent modification of tRNAs is missing. No differences between wild-type and mutant mice in their U2 snRNA modification patterns |
749279 |
| 5.4.99.B22 | malfunction |
U2 snRNAs from pus1DELTA Schizosaccharomyces pombe knockout strain show no changes in their modification patterns when compared to wild-type U2 snRNAs. A novel box H/ACA RNA is found encoded downstream from the RPC10 gene and experimentally verified its guide RNA activity for positioning Psi43 and Psi44 in U2 snRNA |
-, 749279 |
| 5.4.99.B22 | metabolism |
human Pus10 participates in apoptosis induced by the tumor necrosis factor-related apoptosis-inducing ligand |
748425 |
