Literature summary for 3.5.4.9 extracted from

Christensen, K.E.; Rohlicek, C.V.; Andelfinger, G.U.; Michaud, J.; Bigras, J.L.; Richter, A.; Mackenzie, R.E.; Rozen, R.
The MTHFD1 p.Arg653Gln variant alters enzyme function and increases risk for congenital heart defects (2009), Hum. Mutat., 30, 212-220.

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Cloned(Commentary)

Cloned (Comment)	Organism
the wild type and R653Q mutant pBKeDCS constructs are transformed into Escherichia coli BL21 DE3 to express the full-length protein	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
R653Q	mutant enzyme only affects the synthetase activity	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
5,10-methenyltetrahydrofolate + H2O	Homo sapiens	cyclodehydrolase activity of MTHFD1	10-formyltetrahydrofolate + ?	-	r
additional information	Homo sapiens	MTHFD1 is a trifunctional enzyme that interconverts tetrahydrofolate derivatives for nucleotide synthesis	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P11586	-	-

Purification (Commentary)

Purification (Comment)	Organism
by anion-exchange chromatography	Homo sapiens

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
5,10-methenyltetrahydrofolate + H2O	cyclodehydrolase activity of MTHFD1	Homo sapiens	10-formyltetrahydrofolate + ?	-	r
additional information	MTHFD1 is a trifunctional enzyme that interconverts tetrahydrofolate derivatives for nucleotide synthesis	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
methenyltetrahydrofolate cyclohydrolase	-	Homo sapiens
methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase	-	Homo sapiens
MTHFD1	-	Homo sapiens

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Release 2023.1 (January 2023)