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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
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
28 - 3466 101 935 - 1998 9611072
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