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Literature summary for 1.5.1.5 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.
    View publication on PubMed

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 has normal substrate affinity but a 36% reduction in half-life at 42°C Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
5,10-methylene tetrahydrofolate + NADP+ Homo sapiens dehydrogenase activity of MTHFD1 5,10-methenyltetrahydrofolate + NADPH
-
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

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
13.2
-
dehydrogenase activity of the wild type enzyme Homo sapiens
13.9
-
dehydrogenase activity of the mutant R653Q Homo sapiens

Substrates and Products (Substrate)

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

Synonyms

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

Cofactor

Cofactor Comment Organism Structure
NADP+
-
Homo sapiens