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PBB Protein MTHFD1 image.jpg
Available structures
PDBOrtholog search: PDBe RCSB
AliasesMTHFD1, MTHFC, MTHFD, C1-THF-Synthase, methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1, CIMAH
External IDsMGI: 1342005 HomoloGene: 55940 GeneCards: MTHFD1
Gene location (Human)
Chromosome 14 (human)
Chr.Chromosome 14 (human)[1]
Chromosome 14 (human)
Genomic location for MTHFD1
Genomic location for MTHFD1
Band14q23.3Start64,388,031 bp[1]
End64,463,457 bp[1]
RNA expression pattern
PBB GE MTHFD1 202309 at fs.png
More reference expression data
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 14: 64.39 – 64.46 MbChr 12: 76.26 – 76.32 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

C-1-tetrahydrofolate synthase, cytoplasmic also known as C1-THF synthase is an enzyme that in humans is encoded by the MTHFD1 (methylenetetrahydrofolate dehydrogenase 1) gene.[5][6][7]


This gene encodes a protein that possesses three distinct enzymatic activities, methylenetetrahydrofolate dehydrogenase (, methenyltetrahydrofolate cyclohydrolase ( and formate–tetrahydrofolate ligase ( 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.[7][8]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000100714 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021048 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ Hum DW, Bell AW, Rozen R, MacKenzie RE (Dec 1988). "Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase". J Biol Chem. 263 (31): 15946–50. PMID 3053686.
  6. ^ Rozen R, Barton D, Du J, Hum DW, MacKenzie RE, Francke U (Jun 1989). "Chromosomal localization of the gene for the human trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase". Am J Hum Genet. 44 (6): 781–6. PMC 1715669. PMID 2786332.
  7. ^ a b "Entrez Gene: MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase".
  8. ^ Watkins D, Schwartzentruber JA, Ganesh J, Orange JS, Kaplan BS, Nunez LD, Majewski J, Rosenblatt DS (September 2011). "Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband". J. Med. Genet. 48 (9): 590–2. doi:10.1136/jmedgenet-2011-100286. PMID 21813566.

Further reading[edit]