Mthfd1 Gene Summary [Rat]
Predicted to enable formate-tetrahydrofolate ligase activity; methenyltetrahydrofolate cyclohydrolase activity; and methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity. Involved in one-carbon metabolic process and response to nitrogen dioxide. Predicted to be active in cytosol. Human ortholog(s) of this gene implicated in several diseases, including Down syndrome; abdominal aortic aneurysm; cleft lip; developmental cardiac valvular defect; and neural tube defect (multiple). Orthologous to human MTHFD1 (methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1). [provided by Alliance of Genome Resources, Apr 2025]
Details
| Type | Protein Coding |
| Official Symbol | Mthfd1 |
| Official Name | methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 [Source:RGD Symbol;Acc:708531] |
| Ensembl ID | ENSRNOG00000005602 |
| Bio databases IDs | |
| Aliases | methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 |
| Synonyms | C1-tetrahydrofolate synthase, C1-TETRAHYDROFOLATE SYNTHASE C, CIMAH, CYTOPLASMIC C1-THF SYNTHASE, Dcs, E430024A07Rik, LOC64300, methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1, methylenetetrahydrofolate dehydrogenase (NADP+ dependent), methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthase, MTHFC, MTHFD |
| Species | Rat, Rattus norvegicus |
| 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 rat Mthfd1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Rossmann-fold NAD(P)(+)-binding proteins
- formate-tetrahydrofolate ligase
- Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain
- methylenetetrahydrofolate dehydrogenase (NADP)
- methylenetetrahydrofolate dehydrogenase (NAD)
- Formate--tetrahydrofolate ligase
- methenyltetrahydrofolate cyclohydrolase
- enzyme
- protein binding
- methylenetetrahydrofolate dehydrogenase
- 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
- obesity
- metastasis
- combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
- severe combined immunodeficiency
- susceptibility to folate-sensitive spina bifida
- major depression
- susceptibility to folate-sensitive neural tube defects
- ovarian carcinoma
- epithelial ovarian cancer
- combined immunodeficiency and megaloblastic anemia with hyperhomocysteinemia
regulates
- folitixorin
- 5,10-methenyltetrahydrofolate
- L-methionine
- purine nucleotide
- serine family amino acid
- 10-formyltetrahydrofolic acid
- one-carbon compound
- purine ribonucleotide
- L-tetrahydrofolic acid
role in cell
- growth
- replication in
- anoikis
- homeostasis
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
- Nucleus
- Mitochondria
- cytosol
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the rat Mthfd1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- methionine biosynthetic process
- purine ribonucleotide biosynthetic process
- somite development
- purine nucleotide biosynthetic process
- embryonic neurocranium morphogenesis
- 10-formyltetrahydrofolate biosynthetic process
- serine family amino acid metabolic process
- neutrophil homeostasis
- one-carbon metabolic process
- embryonic viscerocranium morphogenesis
- methionine metabolic process
- heart development
- neural tube closure
- tetrahydrofolate interconversion
- transsulfuration
- serine family amino acid biosynthetic process
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- mitochondrion
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein binding
- formate-tetrahydrofolate ligase activity
- methylenetetrahydrofolate dehydrogenase (NAD+) activity
- methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity
- methylenetetrahydrofolate dehydrogenase (NADP+) activity
- methenyltetrahydrofolate cyclohydrolase activity