GFM1 Gene Summary [Human]
Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | GFM1 |
| Official Name | G elongation factor mitochondrial 1 [Source:HGNC Symbol;Acc:HGNC:13780] |
| Ensembl ID | ENSG00000168827 |
| Bio databases IDs | |
| Aliases | G elongation factor mitochondrial 1 |
| Synonyms | COXPD1, D3Wsu133e, EF-G, EFG1, EFGM, EGF1, G elongation factor mitochondrial 1, G elongation factor, mitochondrial 1, GFM, hEFG1, Mitochondrial Elongation Factor G, mtEF-G1 |
| 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 GFM1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- translation elongation factor
- Elongation Factor G, domain III
- 50S ribosome-binding GTPase
- Domain III of Elongation factor G (EF-G) and related proteins
- GTPase
- translation elongation factor EF-G
- protein binding
- Elongation factor Tu domain 2
- EFG_like_IV
- Elongation_Factor_C
- translation regulator
- 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
- peptide chain release factor 3
- translation elongation factor aEF-2
- Elongation factor Tu GTP binding domain
- P-loop containing Nucleoside Triphosphate Hydrolases
- Elongation factor G, domain IV
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- combined oxidative phosphorylation deficiency 1
- combined oxidative phosphorylation deficiency
- insulin resistance
- Leigh syndrome
regulates
- Mitochondrial ETC 1
- cytochrome-c oxidase
- ARC
role in cell
- synthesis in
- activation in
- growth
- translocation
- elongation 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 GFM1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial translational elongation
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
Molecular Function
What the gene product does at the molecular level
- GTP binding
- RNA binding
- protein binding
- translation elongation factor activity
- GTPase activity