Literature summary for 6.3.4.3 extracted from

Parle-McDermott, A.; Kirke, P.N.; Mills, J.L.; Molloy, A.M.; Cox, C.; OLeary, V.B.; Pangilinan, F.; Conley, M.; Cleary, L.; Brody, L.C.; Scott, J.M.
Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population (2006), Eur. J. Hum. Genet., 14, 768-772.

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Protein Variants

Protein Variants	Comment	Organism
R653Q	amino position 653 is located within the 10-formyltetrahydrofolate synthetase domain of the MTHFD1 protein affecting the supply of 10-formyltetrahydrofolate required for purine synthesis	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P11586	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
ATP + formate + tetrahydrofolate	-	Homo sapiens	ADP + phosphate + 10-formyltetrahydrofolate	-	?

Synonyms

Synonyms	Comment	Organism
10-Formyltetrahydrofolate synthetase	-	Homo sapiens
C1 synthase	-	Homo sapiens
MTHFD1	trifunctional enzyme consisting of methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, and formyltetrahydrofolate synthetase	Homo sapiens

Cofactor

Cofactor	Comment	Organism	Structure
ATP	-	Homo sapiens

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Release 2023.1 (January 2023)