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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]
PUS1 (Pseudouridine Synthase 1) is a Protein Coding gene. Diseases associated with PUS1 include Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 and Sideroblastic Anemia. Among its related pathways are tRNA processing and Gene Expression. Gene Ontology (GO) annotations related to this gene include nuclear receptor transcription coactivator activity. An important paralog of this gene is PUS3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000049 | tRNA binding | IDA | 23707380 |
GO:0002153 | steroid receptor RNA activator RNA binding | IDA | 24722331 |
GO:0003723 | RNA binding | IEA,HDA | 22658674 |
GO:0009982 | pseudouridine synthase activity | IEA,IMP | 24722331 |
GO:0016853 | isomerase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005739 | mitochondrion | IDA | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | tRNA processing |
.55
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2 | Gene Expression |
.48
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GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001522 | pseudouridine synthesis | IEA | -- |
GO:0008033 | tRNA processing | IEA | -- |
GO:0009451 | RNA modification | IEA | -- |
GO:0031119 | tRNA pseudouridine synthesis | IEA,IBA | 21873635 |
GO:0070902 | mitochondrial tRNA pseudouridine synthesis | TAS | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Uridine | Experimental, Investigational | Pharma | 0 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | · | 2d | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9a | · | 9b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||
SP4: | - | - | - | ||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||
SP6: | - | - | - | - | - | ||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | |||||||||||||||||||||||||||||
SP8: | - | - | - | - | |||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | |||||||||||||||||||||||||||||
SP10: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PUS1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PUS1 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Pus1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pus1 30 |
|
||
Dog (Canis familiaris) |
Mammalia | PUS1 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PUS1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PUS1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PUS1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PUS1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pus1 30 |
|
||
Str.9273 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.21080 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pus1 30 31 |
|
OneToOne | |
Dr.29119 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.5299 30 |
|
||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002409 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG4159 30 31 32 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | pus-1 30 31 |
|
OneToOne | |
A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_AFL105C 30 |
|
||
K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0B02244g 30 |
|
||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PUS1 30 31 33 |
|
OneToMany | |
PUS2 31 |
|
OneToMany | |||
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G76120 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0668400 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU07528 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | pus1 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.1083 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
673232 | Benign: not provided | 131,938,866(+) | C/T | INTRON_VARIANT | |
676183 | Benign: not provided | 131,929,165(+) | C/G | ||
676197 | Benign: not provided | 131,929,053(+) | A/C | ||
676228 | Benign: not provided | 131,929,142(+) | G/A | ||
678339 | Likely Benign: not provided | 131,929,189(+) | T/G |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2746908 | CNV | deletion | 23290073 |
esv2751042 | CNV | gain | 17911159 |
esv3631281 | CNV | gain | 21293372 |
esv3631282 | CNV | gain | 21293372 |
nsv1145645 | CNV | deletion | 24896259 |
nsv455803 | CNV | gain | 19166990 |
nsv455804 | CNV | loss | 19166990 |
nsv560927 | CNV | gain | 21841781 |
nsv560928 | CNV | gain | 21841781 |
nsv560930 | CNV | loss | 21841781 |
nsv560931 | CNV | loss | 21841781 |
nsv826561 | CNV | gain | 20364138 |
nsv826562 | CNV | loss | 20364138 |
nsv942 | CNV | insertion | 18451855 |
Disorder | Aliases | PubMed IDs |
---|---|---|
myopathy, lactic acidosis, and sideroblastic anemia 1 |
|
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sideroblastic anemia |
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|
lactic acidosis |
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mitochondrial myopathy |
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myopathy, lactic acidosis, and sideroblastic anemia |
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