MTHFD1

Methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase, also known as MTHFD1, is a human gene.cite web | title = Entrez Gene: MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4522| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: MTHFD1 methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4522| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Schild D, Brake AJ, Kiefer MC, "et al." |title=Cloning of three human multifunctional de novo purine biosynthetic genes by functional complementation of yeast mutations. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=87 |issue= 8 |pages= 2916–20 |year= 1990 |pmid= 2183217 |doi=
*cite journal | author=Peri KG, Belanger C, Mackenzie RE |title=Nucleotide sequence of the human NAD-dependent methylene tetrahydrofolate dehydrogenase-cyclohydrolase. |journal=Nucleic Acids Res. |volume=17 |issue= 21 |pages= 8853 |year= 1989 |pmid= 2587219 |doi=
*cite journal | author=Rozen R, Barton D, Du J, "et al." |title=Chromosomal localization of the gene for the human trifunctional enzyme, methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase. |journal=Am. J. Hum. Genet. |volume=44 |issue= 6 |pages= 781–6 |year= 1989 |pmid= 2786332 |doi=
*cite journal | author=Hum DW, Bell AW, Rozen R, MacKenzie RE |title=Primary structure of a human trifunctional enzyme. Isolation of a cDNA encoding methylenetetrahydrofolate dehydrogenase-methenyltetrahydrofolate cyclohydrolase-formyltetrahydrofolate synthetase. |journal=J. Biol. Chem. |volume=263 |issue= 31 |pages= 15946–50 |year= 1988 |pmid= 3053686 |doi=
*cite journal | author=MacKenzie RE, Mejia N, Yang XM |title=Methylenetetrahydrofolate dehydrogenases in normal and transformed mammalian cells. |journal=Adv. Enzyme Regul. |volume=27 |issue= |pages= 31–9 |year= 1989 |pmid= 3074630 |doi=
*cite journal | author=Shannon KW, Rabinowitz JC |title=Purification and characterization of a mitochondrial isozyme of C1-tetrahydrofolate synthase from Saccharomyces cerevisiae. |journal=J. Biol. Chem. |volume=261 |issue= 26 |pages= 12266–71 |year= 1986 |pmid= 3528153 |doi=
*cite journal | author=Mejia NR, MacKenzie RE |title=NAD-dependent methylenetetrahydrofolate dehydrogenase is expressed by immortal cells. |journal=J. Biol. Chem. |volume=260 |issue= 27 |pages= 14616–20 |year= 1985 |pmid= 3877056 |doi=
*cite journal | author=Allaire M, Li Y, MacKenzie RE, Cygler M |title=The 3-D structure of a folate-dependent dehydrogenase/cyclohydrolase bifunctional enzyme at 1.5 A resolution. |journal=Structure |volume=6 |issue= 2 |pages= 173–82 |year= 1998 |pmid= 9519408 |doi=
*cite journal | author=Hol FA, van der Put NM, Geurds MP, "et al." |title=Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects. |journal=Clin. Genet. |volume=53 |issue= 2 |pages= 119–25 |year= 1998 |pmid= 9611072 |doi=
*cite journal | author=Schmidt A, Wu H, MacKenzie RE, "et al." |title=Structures of three inhibitor complexes provide insight into the reaction mechanism of the human methylenetetrahydrofolate dehydrogenase/cyclohydrolase. |journal=Biochemistry |volume=39 |issue= 21 |pages= 6325–35 |year= 2000 |pmid= 10828945 |doi=
*cite journal | author=Brody LC, Conley M, Cox C, "et al." |title=A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. |journal=Am. J. Hum. Genet. |volume=71 |issue= 5 |pages= 1207–15 |year= 2003 |pmid= 12384833 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Gevaert K, Goethals M, Martens L, "et al." |title=Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. |journal=Nat. Biotechnol. |volume=21 |issue= 5 |pages= 566–9 |year= 2004 |pmid= 12665801 |doi= 10.1038/nbt810
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Parle-McDermott A, Mills JL, Kirke PN, "et al." |title=MTHFD1 R653Q polymorphism is a maternal genetic risk factor for severe abruptio placentae. |journal=Am. J. Med. Genet. A |volume=132 |issue= 4 |pages= 365–8 |year= 2005 |pmid= 15633187 |doi= 10.1002/ajmg.a.30354
*cite journal | author=Parle-McDermott A, Pangilinan F, Mills JL, "et al." |title=A polymorphism in the MTHFD1 gene increases a mother's risk of having an unexplained second trimester pregnancy loss. |journal=Mol. Hum. Reprod. |volume=11 |issue= 7 |pages= 477–80 |year= 2005 |pmid= 16123074 |doi= 10.1093/molehr/gah204
*cite journal | author=Kohlmeier M, da Costa KA, Fischer LM, Zeisel SH |title=Genetic variation of folate-mediated one-carbon transfer pathway predicts susceptibility to choline deficiency in humans. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=102 |issue= 44 |pages= 16025–30 |year= 2005 |pmid= 16236726 |doi= 10.1073/pnas.0504285102
*cite journal | author=De Marco P, Merello E, Calevo MG, "et al." |title=Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk. |journal=J. Hum. Genet. |volume=51 |issue= 2 |pages= 98–103 |year= 2006 |pmid= 16315005 |doi= 10.1007/s10038-005-0329-6
*cite journal | author=Sun J, Xu Y, Zhu Y, Lu H |title=Methylenetetrahydrofolate reductase gene polymorphism, homocysteine and risk of macroangiopathy in Type 2 diabetes mellitus. |journal=J. Endocrinol. Invest. |volume=29 |issue= 9 |pages= 814–20 |year= 2007 |pmid= 17114913 |doi=
*cite journal | author=Ewing RM, Chu P, Elisma F, "et al." |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue= |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134

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