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FLASH GENE
Symbol MTHFD1 contributors: mct/npt/pgu - updated : 19-09-2012
HGNC name methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase
HGNC id 7432
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
 stomach   highly
Skin/Tegumentskin   highly
Visualeye   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • the synthetase domain contains two regions that are homologous to consensus sequences for an ATP-binding site
  • mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • in the N-terminal : tetrahydrofolate dehydrogenase cyclohydrolase family
  • in the C-terminal : formate--tetrahydrofolate ligase family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • trifunctional enzyme catalyzing the second step in the oxidation of 5,10-methenyl THF to 10 formyl THF for use in purine biosynthesis
  • possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, cyclohydrolase and synthetase
  • trifunctional enzyme involved in DNA synthesis and folate metabolism
  • ssential for the generation of formyltetrahydrofolate and methylenetetrahydrofolate and important for nucleotide and homocysteine metabolism
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism aminoacid , purine/pyrimidine , other
    signaling
    biosynthesis of purines, thymydylate, methionine, histidine, pantothenate, and formyl tRNA-met
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MTHFD1D
    Susceptibility
  • to neural tube defect and spina bifida, folate-dependent
  • to abdominal aortic aneurysm
  • to congenital heart defects (CHD)
  • to bipolar disorder and schizophrenia
  • to early onset Alzheimer disease
  • Variant & Polymorphism other
  • maternal genotype QQ increasing the risk of neural tube defect-affected pregnancy
  • R653Q increases the maternal risk for neural tube defects
  • Arg653Gln polymorphism decreases enzyme stability and increases risk for CHD
  • G1958A A allele might be a weak risk factor for early onset Alzheimer disease
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS