Mthfd1l Gene Summary [Mouse]
Enables formate-tetrahydrofolate ligase activity. Involved in chordate embryonic development; formate biosynthetic process; and tetrahydrofolate interconversion. Located in mitochondrion. Is active in mitochondrial matrix. Is expressed in several structures, including alimentary system; brain; embryo ectoderm; genitourinary system; and sensory organ. Used to study neural tube defect. Human ortholog(s) of this gene implicated in neural tube defect. Orthologous to human MTHFD1L (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Mthfd1l |
| Official Name | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like [Source:MGI Symbol;Acc:MGI:1924836] |
| Ensembl ID | ENSMUSG00000040675 |
| Bio databases IDs | |
| Aliases | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like |
| Synonyms | 2410004L15RIK, dJ292B18.2, DKFZp586G1517, FTHFSDC1, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like, MITOCHONDRIAL C1-THF SYNTHASE, MTC1THFS |
| Species | Mouse, Mus musculus |
| 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 mouse Mthfd1l 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)
- Formate--tetrahydrofolate ligase
- methenyltetrahydrofolate cyclohydrolase
- ATP binding
- protein homodimerization
- enzyme
- 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
- epithelial cancer
- colorectal cancer
- Alzheimer disease
- pervasive developmental disorder
- coronary artery disease
- diabetic nephropathy
- schizophrenia
- exencephaly
- refractive error
- peripheral arterial disease
regulates
- L-methionine
- 10-formyltetrahydrofolic acid
- 5,10-methenyltetrahydrofolate
- formic acid
- folic acid and derivative
role in cell
- migration
- growth
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 mouse Mthfd1l gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neural tube closure
- embryonic neurocranium morphogenesis
- tetrahydrofolate interconversion
- 10-formyltetrahydrofolate biosynthetic process
- folic acid-containing compound metabolic process
- formate metabolic process
- embryonic viscerocranium morphogenesis
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- membrane
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- ATP binding
- protein homodimerization activity
- formate-tetrahydrofolate ligase activity
- methylenetetrahydrofolate dehydrogenase (NADP+) activity