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Literature summary extracted from

  • Christensen, K.E.; Deng, L.; Leung, K.Y.; Arning, E.; Bottiglieri, T.; Malysheva, O.V.; Caudill, M.A.; Krupenko, N.I.; Greene, N.D.; Jerome-Majewska, L.; MacKenzie, R.E.; Rozen, R.
    A novel mouse model for genetic variation in 10-formyltetrahydrofolate synthetase exhibits disturbed purine synthesis with impacts on pregnancy and embryonic development (2013), Hum. Mol. Genet., 22, 3705-3719.
    View publication on PubMed

Protein Variants

EC Number Protein Variants Comment Organism
6.3.4.3 K386E the mutation completely abrogates synthetase activity Mus musculus
6.3.4.3 R653Q the mutation reduces metabolic activity in cells by about 26% Mus musculus

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
6.3.4.3 cytoplasm
-
 Mus musculus 5737
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
6.3.4.3 ATP + formate + tetrahydrofolate Mus musculus
-
 ADP + phosphate + 10-formyltetrahydrofolate
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
6.3.4.3 Mus musculus
-
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
6.3.4.3 ATP + formate + tetrahydrofolate
-
 Mus musculus ADP + phosphate + 10-formyltetrahydrofolate
-
 ?
6.3.4.3 additional information MTHFD1 is a cytoplasmic enzyme with 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase, and 10-formyltetrahydrofolate synthetase activities Mus musculus ?
-
 ?

Synonyms

EC Number Synonyms Comment Organism
6.3.4.3 10-Formyltetrahydrofolate synthetase
-
 Mus musculus
6.3.4.3 Formyl-THF synthetase
-
 Mus musculus
6.3.4.3 MTHFD1
-
 Mus musculus

Cofactor

EC Number Cofactor Comment Organism Structure
6.3.4.3 ATP
-
 Mus musculus

General Information

EC Number General Information Comment Organism
6.3.4.3 malfunction complete loss of synthetase activity is incompatible with life. Embryos die shortly after 10.5 days gestation, and are developmentally delayed or abnormal. Female synthetase-deficient mice have decreased neutrophil counts during pregnancy and increased incidence of developmental defects in embryos. Synthetase deficiency may lead to pregnancy complications through decreased purine synthesis and reduced cellular proliferation Mus musculus