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Literature summary for 6.3.4.3 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
Search for more literature for 6.3.4.3

Protein Variants

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

Localization

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

Natural Substrates/ Products (Substrates)

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

Organism

Organism UniProt Comment Textmining
Mus musculus
-
-
-

Substrates and Products (Substrate)

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

Synonyms

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

Cofactor

Cofactor Comment Organism Structure
ATP
-
 Mus musculus

General Information

General Information Comment Organism
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