GTPBP3 Gene Summary [Human]
This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]
Details
| Type | Protein Coding |
| Official Symbol | GTPBP3 |
| Official Name | GTP binding protein 3, mitochondrial [Source:HGNC Symbol;Acc:HGNC:14880] |
| Ensembl ID | ENSG00000130299 |
| Bio databases IDs | |
| Aliases | GTP binding protein 3, mitochondrial |
| Synonyms | 2410009F13Rik, AI607903, COXPD23, GTPBG3, GTP binding protein 3, GTP binding protein 3, mitochondrial, LOC108167534, MSS1, MTGP1, THDF1 |
| 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 GTPBP3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- small GTP-binding protein domain
- MnmE helical domain
- tRNA modification GTPase TrmE
- transferase
- GTP-binding protein TrmE N-terminus
- 50S ribosome-binding GTPase
- GTPase
- enzyme
- protein binding
- P-loop containing Nucleoside Triphosphate Hydrolases
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- Mitochondria
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GTPBP3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- tRNA wobble uridine modification
- tRNA methylation
Cellular Component
Where in the cell the gene product is active
- cytoplasm
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- GTPase activity