Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 80324
MIM: 608109
HGNC: 15508
Ensembl: ENSG00000177192
Variants:
dbSNP: 80324
ClinVar: 80324
TCGA: ENSG00000177192
COSMIC: PUS1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35051350 | 2022 | Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing. | 55 |
| 35051350 | 2022 | Pseudouridine synthases modify human pre-mRNA co-transcriptionally and affect pre-mRNA processing. | 55 |
| 31477916 | 2019 | mRNA structure determines modification by pseudouridine synthase 1. | 61 |
| 31477916 | 2019 | mRNA structure determines modification by pseudouridine synthase 1. | 61 |
| 22102571 | 2012 | Pseudouridine synthase 1: a site-specific synthase without strict sequence recognition requirements. | 10 |
| 22998747 | 2012 | A small RNA derived from RNA coactivator SRA blocks steroid receptor signaling via inhibition of Pus1p-mediated pseudouridylation of SRA: evidence of a novel RNA binding domain in the N-terminus of steroid receptors. | 13 |
| 22102571 | 2012 | Pseudouridine synthase 1: a site-specific synthase without strict sequence recognition requirements. | 10 |
| 22998747 | 2012 | A small RNA derived from RNA coactivator SRA blocks steroid receptor signaling via inhibition of Pus1p-mediated pseudouridylation of SRA: evidence of a novel RNA binding domain in the N-terminus of steroid receptors. | 13 |
| 19731322 | 2010 | Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. | 56 |
| 19731322 | 2010 | Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations. | 56 |
| 18648068 | 2008 | Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1. | 13 |
| 18648068 | 2008 | Partial activity is seen with many substitutions of highly conserved active site residues in human Pseudouridine synthase 1. | 13 |
| 17056637 | 2007 | Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). | 64 |
| 17056637 | 2007 | Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). | 64 |
| 15772074 | 2005 | Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation. | 56 |
Citation
Dessen P
PUS1 (pseudouridine synthase 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72399/pus1-(pseudouridine-synthase-1)
