MTHFS Gene Summary [Human]
The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | MTHFS |
| Official Name | methenyltetrahydrofolate synthetase [Source:HGNC Symbol;Acc:HGNC:7437] |
| Ensembl ID | ENSG00000136371 |
| Bio databases IDs | |
| Aliases | methenyltetrahydrofolate synthetase, 5,10-methenyltetrahydrofolate synthetase, 5-formyltetrahydrofolate cyclo-ligase |
| Synonyms | 1110034I12Rik, 2310020H23Rik, 5, 10-methenyltetrahydrofolate synthetase, HsT19268, methenyltetrahydrofolate synthetase, NEDMEHM |
| 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 MTHFS often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- folic acid binding
- 5-formyltetrahydrofolate cyclo-ligase family
- double-stranded DNA binding
- ATP binding
- enzyme
- protein binding
- 5-formyltetrahydrofolate cyclo-ligase
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
- cytosol
- mitochondrial matrix
- mitochondrial nucleoids
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MTHFS gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- glutamate metabolic process
- folic acid-containing compound biosynthetic process
- folic acid metabolic process
- tetrahydrofolate interconversion
- tetrahydrofolate metabolic process
- formate metabolic process
- folic acid catabolic process
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- cytoplasm
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- metal ion binding
- 5-formyltetrahydrofolate cyclo-ligase activity
- folic acid binding