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: 83480
MIM: 616283
HGNC: 25461
Ensembl: ENSG00000110060
Variants:
dbSNP: 83480
ClinVar: 83480
TCGA: ENSG00000110060
COSMIC: PUS3
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Gene Expression | REACTOME | R-HSA-74160 |
| tRNA processing | REACTOME | R-HSA-72306 |
| tRNA modification in the nucleus and cytosol | REACTOME | R-HSA-6782315 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36125428 | 2022 | Destabilization of mutated human PUS3 protein causes intellectual disability. | 7 |
| 36125428 | 2022 | Destabilization of mutated human PUS3 protein causes intellectual disability. | 7 |
| 34415064 | 2021 | Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders. | 14 |
| 34415064 | 2021 | Clinical and molecular delineation of PUS3-associated neurodevelopmental disorders. | 14 |
| 27055666 | 2016 | A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. | 74 |
| 27055666 | 2016 | A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition. | 74 |
Citation
Dessen P
PUS3 (pseudouridine synthase 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72401/pus3-(pseudouridine-synthase-3)
