TSFM Gene Summary [Human]
This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]
Details
| Type | Protein Coding |
| Official Symbol | TSFM |
| Official Name | Ts translation elongation factor, mitochondrial [Source:HGNC Symbol;Acc:HGNC:12367] |
| Ensembl ID | ENSG00000123297 |
| Bio databases IDs | |
| Aliases | Ts translation elongation factor, mitochondrial |
| Synonyms | 2310050B20RIK, 2A3-2, 9430024O13Rik, EF-TS, EFTSMT, Ts 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 TSFM often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- UBA domain-like superfamily
- Elongation factor TS
- protein binding
- translation elongation factor Ts
- translation regulator
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- insulin-dependent diabetes mellitus
- insulin resistance
- encephalomyopathy with respiratory failure and lactic acidosis
- primary dilated cardiomyopathy
- hereditary disorder
- Leigh syndrome
- multiple sclerosis
- mitochondrial disorder
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
- nucleoplasm
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TSFM gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of transcription elongation, DNA-dependent
- mitochondrial translational elongation
- translational elongation
- regulation of mitochondrial translation
Cellular Component
Where in the cell the gene product is active
- mitochondrion
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding
- RNA binding
- translation elongation factor activity