MTHFD1

This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]

Description

Methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

Tissue specificity

Tissue enriched (liver)

Subcell location

Cytosol

Predicted location

Intracellular

Protein family

Human disease related genes
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

14 (64388031 - 64463457)

Ensembl ID

ENSG00000100714  (ver. 103.38)

Orthologs

Mouse Mthfd1: ENSMUSG00000021048

UniProt

 

neXtProt

 

Human splice variants
Mouse splice variants

Protein structure