TRMU Gene Summary [Human]
This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Details
| Type | Processed Transcript |
| Official Symbol | TRMU |
| Official Name | tRNA mitochondrial 2-thiouridylase [Source:HGNC Symbol;Acc:HGNC:25481] |
| Ensembl ID | ENSG00000100416 |
| Bio databases IDs | |
| Aliases | tRNA mitochondrial 2-thiouridylase, mitochondrial tRNA-specific 2-thiouridylase 1 |
| Synonyms | 1110005N20RIK, 1600025P05Rik, LCAL3, MTO2, MTU1, onco-lncRNA-1, TRMT, TRMT1, tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase, tRNA mitochondrial 2-thiouridylase |
| 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 TRMU 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 methyl transferase HUP domain
- tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase
- tRNA methyl transferase PRC-barrel domain
- Aminomethyltransferase beta-barrel domain
- enzyme
- protein binding
- Adenine nucleotide alpha hydrolase (AANH) superfamily
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- squamous cell lung cancer
- hereditary disorder
- transient infantile liver failure
- reversible infantile cytochrome c oxidase deficiency
- lung adenocarcinoma
- lung adenocarcinoma formation
- preeclampsia
- urothelial bladder carcinoma
- transitional cell bladder cancer
- lung squamous cell carcinoma
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TRMU gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tRNA wobble position uridine thiolation
Cellular Component
Where in the cell the gene product is active
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- ATP binding
- tRNA binding