MTHFD1L
Template:Short description An Error has occurred retrieving Wikidata item for infobox 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
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- ^ Page Module:Citation/CS1/styles.css has no content.Prasannan P, Pike S, Peng K, Shane B, Appling DR (October 2003). "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. doi:10.1074/jbc.M304319200. PMC 1457088. PMID 12937168.
- ^ Page Module:Citation/CS1/styles.css has no content.Christensen KE, Mackenzie RE (2008). "Mitochondrial methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetases". Vitam. Horm. 79: 393–410. doi:10.1016/S0083-6729(08)00414-7. PMID 18804703.
- ^ a b Page Module:Citation/CS1/styles.css has no content."Entrez Gene: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like".
- ^ Page Module:Citation/CS1/styles.css has no content.Christensen KE, Patel H, Kuzmanov U, Mejia NR, MacKenzie RE (March 2005). "Disruption of the mthfd1 gene reveals a monofunctional 10-formyltetrahydrofolate synthetase in mammalian mitochondria". J. Biol. Chem. 280 (9): 7597–602. doi:10.1074/jbc.M409380200. PMID 15611115.
- ^ Page Module:Citation/CS1/styles.css has no content.Parle-McDermott A, Pangilinan F, O'Brien KK, Mills JL, Magee AM, Troendle J, Sutton M, Scott JM, Kirke PN, Molloy AM, Brody LC (December 2009). "A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency". Hum. Mutat. 30 (12): 1650–6. doi:10.1002/humu.21109. PMC 2787683. PMID 19777576.
- ^ Page Module:Citation/CS1/styles.css has no content.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. S2CID 6583361.
Further reading
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- Page Module:Citation/CS1/styles.css has no content.McKnight AJ, Maxwell AP, Fogarty DG, et al. (2009). "Genetic analysis of coronary artery disease single-nucleotide polymorphisms in diabetic nephropathy". Nephrol. Dial. Transplant. 24 (8): 2473–6. doi:10.1093/ndt/gfp015. PMID 19336575.
- Page Module:Citation/CS1/styles.css has no content.Bressler J, Folsom AR, Couper DJ, et al. (2010). "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. doi:10.1093/aje/kwp377. PMC 2800304. PMID 19955471.
- Page Module:Citation/CS1/styles.css has no content.Sugiura T, Nagano Y, Inoue T, Hirotani K (2004). "A novel mitochondrial C1-tetrahydrofolate synthetase is upregulated in human colon adenocarcinoma". Biochem. Biophys. Res. Commun. 315 (1): 204–11. doi:10.1016/j.bbrc.2004.01.035. PMID 15013446.
- Page Module:Citation/CS1/styles.css has no content.Samani NJ, Erdmann J, Hall AS, et al. (2007). "Genomewide association analysis of coronary artery disease". N. Engl. J. Med. 357 (5): 443–53. doi:10.1056/NEJMoa072366. PMC 2719290. PMID 17634449.
- Page Module:Citation/CS1/styles.css has no content.Parle-McDermott A, Pangilinan F, O'Brien KK, et al. (2009). "A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency". Hum. Mutat. 30 (12): 1650–6. doi:10.1002/humu.21109. PMC 2787683. PMID 19777576.
- Page Module:Citation/CS1/styles.css has no content.Pridgeon JW, Webber EA, Sha D, et al. (2009). "Proteomic analysis reveals Hrs ubiquitin-interacting motif-mediated ubiquitin signaling in multiple cellular processes". FEBS J. 276 (1): 118–31. doi:10.1111/j.1742-4658.2008.06760.x. PMC 2647816. PMID 19019082.
- Page Module:Citation/CS1/styles.css has no content.Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Page Module:Citation/CS1/styles.css has no content.Walkup AS, Appling DR (2005). "Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase". Arch. Biochem. Biophys. 442 (2): 196–205. doi:10.1016/j.abb.2005.08.007. PMID 16171773.
- Page Module:Citation/CS1/styles.css has no content.Fountoulakis M, Gulesserian T, Lubec G (2003). "Overexpression of C1-tetrahydrofolate synthase in fetal Down Syndrome brain". Advances in Down Syndrome Research. Journal of Neural Transmission Supplement 67. Vol. 67. pp. 85–93. doi:10.1007/978-3-7091-6721-2_7. ISBN 978-3-211-40776-9. PMID 15068241.
{{cite book}}:|journal=ignored (help) - Page Module:Citation/CS1/styles.css has no content.Sowa ME, Bennett EJ, Gygi SP, Harper JW (2009). "Defining the human deubiquitinating enzyme interaction landscape". Cell. 138 (2): 389–403. doi:10.1016/j.cell.2009.04.042. PMC 2716422. PMID 19615732.
- Page Module:Citation/CS1/styles.css has no content.Vieira AR, McHenry TG, Daack-Hirsch S, et al. (2008). "Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts". Genet. Med. 10 (9): 668–74. doi:10.1097/GIM.0b013e3181833793. PMC 2734954. PMID 18978678.
- Page Module:Citation/CS1/styles.css has no content.Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1) 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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