5.4.99.B22: multisite-specific tRNA pseudouridine synthase
This is an abbreviated version!
For detailed information about multisite-specific tRNA pseudouridine synthase, go to the full flat file.
Word Map on EC 5.4.99.B22
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5.4.99.B22
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pseudouridylation
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anemia
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sideroblastic
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myopathy
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dyskerin
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anticodon
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mlasa
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spliceosomal
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nuclear-encoded
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agriculture
- 5.4.99.B22
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pseudouridylation
- anemia
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sideroblastic
- myopathy
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dyskerin
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anticodon
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mlasa
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spliceosomal
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nuclear-encoded
- agriculture
Reaction
Synonyms
cePus1p, dmPus1p, hPus1p, mPus1p, pseudouridine synthase 1, pseudouridine synthase Pus10, PUS1, Pus1p, Pus4, PUS6, PUS7, RluE, RNA:pseudouridine synthases 1, RPUSD4, scPus1p, spPus1p, SVR1, TgPUS1, xtPus1p, YmfC
ECTree
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General Information
General Information on EC 5.4.99.B22 - multisite-specific tRNA pseudouridine synthase
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evolution
malfunction
metabolism
physiological function
additional information
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
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
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
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
evolution
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Pus1p is a member of the TruA pseudouridine synthase family
evolution
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Pus1p is a member of the TruA pseudouridine synthase family
evolution
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Pus1p is a member of the TruA pseudouridine synthase family
evolution
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Pus1p is a member of the TruA pseudouridine synthase family
evolution
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Pus1p is a member of the TruA pseudouridine synthase family
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evolution
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Pus1p is a member of the TruA pseudouridine synthase family
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evolution
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Pus1p is a member of the TruA pseudouridine synthase family
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missense mutation in PUS1 causes mitochondrial myopathy and sideroblastic anemia (a rare, autosomal recessive oxidative phosphorylation disorder specific to skeletal muscle and bone marrow)
malfunction
the disruption of the Pus1 gene confers no obvious phenotype
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
malfunction
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in mutant worms, the absence of Pus1p activity on tRNAs has no effect on U2 snRNA modification
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
malfunction
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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
malfunction
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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
malfunction
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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
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human Pus10 participates in apoptosis induced by the tumor necrosis factor-related apoptosis-inducing ligand
metabolism
pseudouridine synthase RPUSD4 is an essential component of mitochondrial RNA granules. Several steps of mitochondrial RNA processing and maturation, including RNA post-transcriptional modification, are spatially organized into mitochondrial RNA granules
metabolism
RluE is a faster pseudouridine synthase than other enzymes which likely enables it to act in the early stages of ribosome form
metabolism
the enzyme is required for proper chloroplast rRNA processing and protein translation
metabolism
the enzyme modulate class I and class II nuclear receptor responses through its ability to modify the steroid receptor RNA activator
metabolism
the Pus1 enzyme is necessary and sufficient for pseudouridylation of RPL11a mRNA
metabolism
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the Pus1 enzyme is necessary and sufficient for pseudouridylation of RPL11a mRNA
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metabolism
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RluE is a faster pseudouridine synthase than other enzymes which likely enables it to act in the early stages of ribosome form
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a pseudouridine synthase (TgPUS1) is necessary for differentiation of the single celled eukaryotic parasite Toxoplasma gondii from active to chronic infection. Many Psis in tRNA and mRNA are dependent on the action of TgPUS1, and TgPUS1-dependent mRNA Psis are enriched in developmentally regulated transcripts. Genes containing a TgPUS1-dependent Psi are relatively more abundant in mutant parasites, mRNAs containing TgPUS1-dependent Psi have a modest but statistically significant increase in half-life in the mutant parasites. mRNA Psis play an important biological role. PUS is necessary for differentiation of the parasite Toxoplasma gondii. Pseudouridylation of spliceosomal RNAs is TgPUS1-independent
physiological function
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in vertebrate SCARNA8, stronger binding in the alternative configuration to position U2-Psi45 might facilitate efficient sliding to position U2-Psi44. Multiple guide RNAs are typically assigned to the most important modified positions. Pseudouridines at the branch point recognition region of U2 snRNA represent such functionally crucial modifications
physiological function
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in vertebrate SCARNA8, stronger binding in the alternative configuration to position U2-Psi45 might facilitate efficient sliding to position U2-Psi44. Multiple guide RNAs are typically assigned to the most important modified positions. Pseudouridines at the branch point recognition region of U2 snRNA represent such functionally crucial modifications
physiological function
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multiple guide RNAs are typically assigned to the most important modified positions. Pseudouridines at the branch point recognition region of U2 snRNA represent such functionally crucial modifications
physiological function
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multiple guide RNAs are typically assigned to the most important modified positions. Pseudouridines at the branch point recognition region of U2 snRNA represent such functionally crucial modifications
physiological function
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multiple guide RNAs are typically assigned to the most important modified positions. Pseudouridines at the branch point recognition region of U2 snRNA represent such functionally crucial modifications
physiological function
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multiple guide RNAs are typically assigned to the most important modified positions. Pseudouridines at the branch point recognition region of U2 snRNA represent such functionally crucial modifications
physiological function
the most abundant RNA modification is pseudouridine (Psi), Psi is ubiquitous in diverse RNAs, and dynamic in mRNA. Pseudouridylation profiles and mechanisms. Pus7-dependent induction of pseudouridylation during heat shock
physiological function
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multiple guide RNAs are typically assigned to the most important modified positions. Pseudouridines at the branch point recognition region of U2 snRNA represent such functionally crucial modifications
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physiological function
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multiple guide RNAs are typically assigned to the most important modified positions. Pseudouridines at the branch point recognition region of U2 snRNA represent such functionally crucial modifications
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physiological function
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multiple guide RNAs are typically assigned to the most important modified positions. Pseudouridines at the branch point recognition region of U2 snRNA represent such functionally crucial modifications
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hPus1p active site architecture analysis, overview
additional information
pseudouridines in Toxoplasma snRNAs are homologous to those in Saccharomyces cerevisiae and human snRNAs, and are not TgPUS1-dependent
additional information
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pseudouridines in Toxoplasma snRNAs are homologous to those in Saccharomyces cerevisiae and human snRNAs, and are not TgPUS1-dependent
additional information
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screening for other potential guide RNAs for pseudouridylation of position 43 in U2 snRNA, vertebrate box H/ACA RNAs for antisense elements specific to the U2 snRNA branch point recognition region. The SNORA71 5'-terminal pseudouridylation pocket can base pair with U2 snRNA, both positions 43 and 41 can be modified by base-pairing within the same pseudouridylation pocket
additional information
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screening for other potential guide RNAs for pseudouridylation of position 43 in U2 snRNA, vertebrate box H/ACA RNAs for antisense elements specific to the U2 snRNA branch point recognition region. The SNORA71 5'-terminal pseudouridylation pocket can base pair with U2 snRNA, both positions 43 and 41 can be modified by base-pairing within the same pseudouridylation pocket
additional information
transcriptome-wide quantitative mapping of Psi, method development using Psi-seq, relying on the unique stability of N3-[N-cyclohexyl-N'-beta-(4-methylmorpholinium)ethylcarbodiimide-Psi] (N3-CMC-Psi) to alkaline hydrolysis, and the ability of N3-CMC-Psi to terminate reverse transcription. For rRNA, 24/24 Cbf5-dependent sites are known targets of pseudouridylation, 8/9 associations between snoRNAs and rRNA sites are known, as is the identified Pus5-mediated Psi site in mitochondrial 21S rRNA. One snR3-dependent site at position 2140 on 25S rRNA is not specificated, detailed overview. Cbf5-dependent Psi sites in mRNAs and snoRNAs are likely snoRNA-guided
additional information
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U2 snRNA can be modified in Caenorhabditis elegans by a Pus1p-independent mechanism
additional information
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U2 snRNA can be modified in Schizosaccharomyces pombe by a Pus1p-independent mechanism
additional information
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U2 snRNA can be modified in Schizosaccharomyces pombe by a Pus1p-independent mechanism
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