GUF1 Gene Summary [Human]
This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synthesis. The protein contains a highly conserved C-terminal domain not found in other GTPases that facilitates tRNA binding. The encoded protein is thought to prevent misincorporation of amino acids in stressful, suboptimal conditions. An allelic variant in this gene has been associated with early infantile epileptic encephalopathy-40. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Details
| Type | Protein Coding |
| Official Symbol | GUF1 |
| Official Name | GTP binding elongation factor GUF1 [Source:HGNC Symbol;Acc:HGNC:25799] |
| Ensembl ID | ENSG00000151806 |
| Bio databases IDs | |
| Aliases | GTP binding elongation factor GUF1 |
| Synonyms | 4631409J12, DEE40, EF-4, EIEE40, GTP binding elongation factor GUF1, GUF1 homolog, GTPase, mtEF4, RGD1310774 |
| 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 GUF1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- elongation factor 4
- Elongation Factor G, domain III
- 50S ribosome-binding GTPase
- Domain III of Elongation factor G (EF-G) and related proteins
- translation elongation factor EF-G
- Elongation factor Tu domain 2
- Elongation_Factor_C
- Domain II of Elongation factor Tu (EF-Tu)-like proteins
- small GTP-binding protein domain
- Elongation factor G C-terminus
- elongation factor G-like protein
- Elongation factor Tu GTP binding domain
- P-loop containing Nucleoside Triphosphate Hydrolases
- GTP-binding protein LepA C-terminus
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
- Mitochondria
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GUF1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of translation
- translation
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- mitochondrial inner membrane
Molecular Function
What the gene product does at the molecular level
- mitochondrial ribosome binding
- GTP binding
- GTPase activity