PUS10 Gene Summary [Human]
Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]
Details
| Type | Retained Intron |
| Official Symbol | PUS10 |
| Official Name | pseudouridine synthase 10 [Source:HGNC Symbol;Acc:HGNC:26505] |
| Ensembl ID | ENSG00000162927 |
| Bio databases IDs | |
| Aliases | pseudouridine synthase 10 |
| Synonyms | 2810013G11Rik, 4933435A13Rik, CCDC139, DOBI, Hup10, LOC100910638, pseudouridine synthase 10, pseudouridylate synthase 10, RGD1306402 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PUS10 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- pseudouridine synthase
- enzyme
- protein binding
- RNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- renal cell carcinoma
- organismal death
- Crohn disease
- atopic dermatitis
- peroxisome biogenesis disorder 11a (zellweger)
- ulcerative colitis
- renal cell cancer
- inflammatory bowel disease
- autoimmune disease
regulated by
role in cell
- expression in
- apoptosis
- formation in
- migration
- formation
- binding in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PUS10 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tRNA pseudouridine synthesis
- primary miRNA processing
Cellular Component
Where in the cell the gene product is active
- nucleus
- cytoplasm
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- pseudouridine synthase activity
- primary miRNA binding