NSUN3 Gene Summary [Human]
Enables tRNA (cytosine-5-)-methyltransferase activity. Involved in regulation of mitochondrial translation and tRNA wobble base cytosine methylation. Located in mitochondrial matrix. Implicated in combined oxidative phosphorylation deficiency 48. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Processed Transcript |
| Official Symbol | NSUN3 |
| Official Name | NOP2/Sun RNA methyltransferase 3 [Source:HGNC Symbol;Acc:HGNC:26208] |
| Ensembl ID | ENSG00000178694 |
| Bio databases IDs | |
| Aliases | NOP2/Sun RNA methyltransferase 3, tRNA (cytosine(34)-C(5))-methyltransferase, mitochondrial |
| Synonyms | 6720484A09RIK, COXPD48, LOC102549993, LOC679671, MST077, MSTP077, NOL1/NOP2/Sun domain family member 3, NOP2/Sun RNA methyltransferase 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 NSUN3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- tRNA (cytosine-5-)-methyltransferase
- NOL1/NOP2/sun family putative RNA methylase
- 16S rRNA methyltransferase RsmB/F
- enzyme
- AdoMet_MTases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- metastasis
- deep vein thrombosis
- combined oxidative phosphorylation deficiency 48
- hereditary disorder
- thromboembolism
role in cell
- acidification in
- glycolysis in
- number
- translation in
- synthesis in
- cellular respiration 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
- Mitochondria
- mitochondrial matrix
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human NSUN3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- wobble base cytosine methylation
- rRNA methylation
- regulation of mitochondrial translation
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- mitochondrial large ribosomal subunit
Molecular Function
What the gene product does at the molecular level
- tRNA (cytosine-5-)-methyltransferase activity
- methyltransferase activity
- tRNA binding