TUFM Gene Summary [Human]
This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | TUFM |
| Official Name | Tu translation elongation factor, mitochondrial [Source:HGNC Symbol;Acc:HGNC:12420] |
| Ensembl ID | ENSG00000178952 |
| Bio databases IDs | |
| Aliases | Tu translation elongation factor, mitochondrial |
| Synonyms | 2300002G02RIK, C76308, C76389, COXPD4, EFTU, EF-TuMT, MTEF-TU, P43, Tu translation elongation factor, mitochondrial |
| 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 TUFM 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 Tu C-terminal domain
- GTPase
- protein binding
- magnesium ion binding
- Elongation factor Tu domain 2
- translation regulator
- GTP binding
- Domain III of Elongation factor (EF) Tu (EF-TU) and related proteins
- Domain II of Elongation factor Tu (EF-Tu)-like proteins
- translation elongation factor TU
- Elongation factor Tu GTP binding domain
- 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.
disease
- Huntington disease
- mitochondrial disorder
- combined oxidative phosphorylation deficiency 4
- metabolic syndrome X
- abdominal aortic aneurysm
- cutaneous melanoma
- cutaneous melanoma cancer
role in cell
- apoptosis
- production in
- cell death
- survival
- necroptosis
- quantity
- autophagy by
- processing in
- pyroptosis
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
- soluble fraction
- Mitochondria
- cytosol
- mitochondrial nucleoids
- mitochondrial outer membrane
- nucleoli
- synapse
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TUFM gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- response to ethanol
- mitochondrial translational elongation
- translational elongation
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- membrane
- mitochondrion
- synapse
- mitochondrial outer membrane
- mitochondrial nucleoid
Molecular Function
What the gene product does at the molecular level
- GTP binding
- protein binding
- RNA binding
- translation elongation factor activity
- GTPase activity