Biology:MTHFD1L
 Generic protein structure example |
Monofunctional C1-tetrahydrofolate synthase, mitochondrial also known as formyltetrahydrofolate synthetase, is an enzyme that in humans is encoded by the MTHFD1L gene (methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like).[1][2][3]
Function
One-carbon substituted forms of tetrahydrofolate (THF) are involved in the de novo synthesis of purines and thymidylate and support cellular methylation reactions through the regeneration of methionine from homocysteine. MTHFD1L is an enzyme involved in THF synthesis in mitochondria.[3]
In contrast to MTHFD1 that has trifunctional methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetase enzymatic activities, MTHFD1L only has formyltetrahydrofolate synthetase activity.[4]
Clinical significance
Certain variants of the MTHFD1L are associated neural tube defects.[5] Different alleles of SNP rs7646 in the 3′ UTR of MTHFD1L are differentially regulated by microRNAs affecting MTHFD1L expression.[6]
References
- ↑ "Human mitochondrial C1-tetrahydrofolate synthase: gene structure, tissue distribution of the mRNA, and immunolocalization in Chinese hamster ovary calls". J. Biol. Chem. 278 (44): 43178–87. October 2003. doi:10.1074/jbc.M304319200. PMID 12937168.
- ↑ "Mitochondrial methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetases". Vitam. Horm. 79: 393–410. 2008. doi:10.1016/S0083-6729(08)00414-7. PMID 18804703.
- ↑ 3.0 3.1 "Entrez Gene: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25902.
- ↑ "Disruption of the mthfd1 gene reveals a monofunctional 10-formyltetrahydrofolate synthetase in mammalian mitochondria". J. Biol. Chem. 280 (9): 7597–602. March 2005. doi:10.1074/jbc.M409380200. PMID 15611115.
- ↑ "A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency". Hum. Mutat. 30 (12): 1650–6. December 2009. doi:10.1002/humu.21109. PMID 19777576.
- ↑ Minguzzi, Stefano; Selcuklu, S. Duygu; Spillane, Charles; Parle-McDermott, Anne (2013-12-18). "An NTD-Associated Polymorphism in the 3′ UTR of MTHFD1L can Affect Disease Risk by Altering miRNA Binding". Human Mutation 35 (1): 96–104. doi:10.1002/humu.22459. ISSN 1059-7794. PMID 24123340.
Further reading
- "Genetic analysis of coronary artery disease single-nucleotide polymorphisms in diabetic nephropathy.". Nephrol. Dial. Transplant. 24 (8): 2473–6. 2009. doi:10.1093/ndt/gfp015. PMID 19336575.
- "Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study.". Am. J. Epidemiol. 171 (1): 14–23. 2010. doi:10.1093/aje/kwp377. PMID 19955471.
- "A novel mitochondrial C1-tetrahydrofolate synthetase is upregulated in human colon adenocarcinoma.". Biochem. Biophys. Res. Commun. 315 (1): 204–11. 2004. doi:10.1016/j.bbrc.2004.01.035. PMID 15013446.
- "Genomewide association analysis of coronary artery disease.". N. Engl. J. Med. 357 (5): 443–53. 2007. doi:10.1056/NEJMoa072366. PMID 17634449.
- "A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency.". Hum. Mutat. 30 (12): 1650–6. 2009. doi:10.1002/humu.21109. PMID 19777576.
- "Proteomic analysis reveals Hrs ubiquitin-interacting motif-mediated ubiquitin signaling in multiple cellular processes.". FEBS J. 276 (1): 118–31. 2009. doi:10.1111/j.1742-4658.2008.06760.x. PMID 19019082.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2002. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase.". Arch. Biochem. Biophys. 442 (2): 196–205. 2005. doi:10.1016/j.abb.2005.08.007. PMID 16171773.
- "Overexpression of C1-tetrahydrofolate synthase in fetal Down Syndrome brain". Advances in Down Syndrome Research. Journal of Neural Transmission Supplement 67. 67. 2003. 85–93. doi:10.1007/978-3-7091-6721-2_7. ISBN 978-3-211-40776-9.
- "Defining the human deubiquitinating enzyme interaction landscape.". Cell 138 (2): 389–403. 2009. doi:10.1016/j.cell.2009.04.042. PMID 19615732.
- "Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.". Genet. Med. 10 (9): 668–74. 2008. doi:10.1097/GIM.0b013e3181833793. PMID 18978678.
- "Large-scale mapping of human protein-protein interactions by mass spectrometry.". Mol. Syst. Biol. 3 (1): 89. 2007. doi:10.1038/msb4100134. PMID 17353931.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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