NP_005947
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Related Accession #
NCBI Official Full Name
C-1-tetrahydrofolate synthase, cytoplasmic isoform 1
NCBI Official Synonym Full Names
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
NCBI Protein Information
C-1-tetrahydrofolate synthase, cytoplasmic
UniProt Protein Name
C-1-tetrahydrofolate synthase, cytoplasmic
UniProt Synonym Gene Names
UniProt Entry Name
C1TC_HUMAN
NCBI Summary for 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]
UniProt Comments for MTHFD1
MTHFD1: an ubiquitous trifunctional enzyme containing two major domains: a N-terminal part, containing methylene-THF dehydrogenase and methenyl-THF cyclohydrolase activities, and a C-terminal part containing a formyl-THF synthetase domain.
Protein type: EC 1.5.1.5; Oxidoreductase; Ligase; Cofactor and Vitamin Metabolism - one carbon pool by folate; EC 6.3.4.3; Carbohydrate Metabolism - glyoxylate and dicarboxylate; Hydrolase; EC 3.5.4.9
Chromosomal Location of Human Ortholog: 14q24
Cellular Component: mitochondrion; membrane; cytosol
Molecular Function: methylenetetrahydrofolate dehydrogenase (NADP+) activity; formate-tetrahydrofolate ligase activity; methenyltetrahydrofolate cyclohydrolase activity; ATP binding; methylenetetrahydrofolate dehydrogenase activity
Biological Process: histidine biosynthetic process; folic acid and derivative biosynthetic process; vitamin metabolic process; methionine biosynthetic process; purine nucleotide biosynthetic process; folic acid metabolic process; one-carbon compound metabolic process; water-soluble vitamin metabolic process
Disease: Neural Tube Defects, Folate-sensitive
Research Articles on MTHFD1
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Products associated with anti-MTHFD1 antibody
Pathways associated with anti-MTHFD1 antibody
Diseases associated with anti-MTHFD1 antibody
Organs/Tissues associated with anti-MTHFD1 antibody
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