RPUSD3 Gene Summary [Human]
This gene encodes a protein that functions in the assembly of the mitochondrial ribosome by adding a pseudouridine group to 16S rRNA. Loss of this gene results in causes defects in mitochondrial protein production. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2017]
Details
| Type | Protein Coding |
| Official Symbol | RPUSD3 |
| Official Name | RNA pseudouridine synthase D3 [Source:HGNC Symbol;Acc:HGNC:28437] |
| Ensembl ID | ENSG00000156990 |
| Bio databases IDs | |
| Aliases | RNA pseudouridine synthase D3 |
| Synonyms | RGD1307582, RNA pseudouridine synthase D3, RNA pseudouridylate synthase domain containing 3 |
| 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 RPUSD3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- PseudoU_synth
- protein binding
- RNA pseudouridylate synthase
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
- ribonucleoprotein granule
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human RPUSD3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- pseudouridine synthesis
- positive regulation of mitochondrial translation
- mRNA processing
Cellular Component
Where in the cell the gene product is active
- ribonucleoprotein granule
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA binding
- pseudouridine synthase activity