MTHFD1L Gene Summary [Human]
The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
Details
| Type | Protein Coding |
| Official Symbol | MTHFD1L |
| Official Name | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like [Source:HGNC Symbol;Acc:HGNC:21055] |
| Ensembl ID | ENSG00000120254 |
| Bio databases IDs | |
| Aliases | methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like, 10-formyl-THF synthetase, mitochondrial C1-tetrahydrofolate synthase, monofunctional C1-tetrahydrofolate synthase, mitochondrial |
| Synonyms | 2410004L15RIK, dJ292B18.2, DKFZp586G1517, FTHFSDC1, methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like, MITOCHONDRIAL C1-THF SYNTHASE, MTC1THFS |
| 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 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 human 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