MTHFD1L
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).[5][6][7]
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.[7]
In contrast to MTHFD1 that has trifunctional methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetase enzymatic activities, MTHFD1L only has formyltetrahydrofolate synthetase activity.[8]
Clinical significance
Certain variants of the MTHFD1L are associated neural tube defects.[9] Different alleles of SNP rs7646 in the 3′ UTR of MTHFD1L are differentially regulated by microRNAs affecting MTHFD1L expression.[10]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000120254 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040675 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ 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". The Journal of Biological Chemistry. 278 (44): 43178–43187. doi:10.1074/jbc.M304319200. PMC 1457088. PMID 12937168.
- ^ Christensen KE, Mackenzie RE (2008). "Mitochondrial methylenetetrahydrofolate dehydrogenase, methenyltetrahydrofolate cyclohydrolase, and formyltetrahydrofolate synthetases". Vitamins and Hormones. 79: 393–410. doi:10.1016/S0083-6729(08)00414-7. PMID 18804703.
- ^ a b "Entrez Gene: methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like".
- ^ 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". The Journal of Biological Chemistry. 280 (9): 7597–7602. doi:10.1074/jbc.M409380200. PMID 15611115.
- ^ Parle-McDermott A, Pangilinan F, O'Brien KK, Mills JL, Magee AM, Troendle J, et al. (December 2009). "A common variant in MTHFD1L is associated with neural tube defects and mRNA splicing efficiency". Human Mutation. 30 (12): 1650–1656. doi:10.1002/humu.21109. PMC 2787683. PMID 19777576.
- ^ Minguzzi S, Selcuklu SD, Spillane C, Parle-McDermott A (January 2014). "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. PMID 24123340. S2CID 6583361.
Further reading
- McKnight AJ, Maxwell AP, Fogarty DG, Sadlier D, Savage DA (August 2009). "Genetic analysis of coronary artery disease single-nucleotide polymorphisms in diabetic nephropathy". Nephrology, Dialysis, Transplantation. 24 (8): 2473–2476. doi:10.1093/ndt/gfp015. PMID 19336575.
- Bressler J, Folsom AR, Couper DJ, Volcik KA, Boerwinkle E (January 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". American Journal of Epidemiology. 171 (1): 14–23. doi:10.1093/aje/kwp377. PMC 2800304. PMID 19955471.
- Sugiura T, Nagano Y, Inoue T, Hirotani K (2004). "A novel mitochondrial C1-tetrahydrofolate synthetase is upregulated in human colon adenocarcinoma". Biochemical and Biophysical Research Communications. 315 (1): 204–211. doi:10.1016/j.bbrc.2004.01.035. PMID 15013446.
- Samani NJ, Erdmann J, Hall AS, Hengstenberg C, Mangino M, Mayer B, et al. (August 2007). "Genomewide association analysis of coronary artery disease". The New England Journal of Medicine. 357 (5): 443–453. doi:10.1056/NEJMoa072366. PMC 2719290. PMID 17634449.
- Pridgeon JW, Webber EA, Sha D, Li L, Chin LS (January 2009). "Proteomic analysis reveals Hrs ubiquitin-interacting motif-mediated ubiquitin signaling in multiple cellular processes". The FEBS Journal. 276 (1): 118–131. doi:10.1111/j.1742-4658.2008.06760.x. PMC 2647816. PMID 19019082.
- Walkup AS, Appling DR (2005). "Enzymatic characterization of human mitochondrial C1-tetrahydrofolate synthase". Archives of Biochemistry and Biophysics. 442 (2): 196–205. doi:10.1016/j.abb.2005.08.007. PMID 16171773.
- Fountoulakis M, Gulesserian T, Lubec G (2003). "Overexpression of C1-tetrahydrofolate synthase in fetal Down Syndrome brain". Journal of Neural Transmission. Supplementum. Advances in Down Syndrome Research. 67 (67): 85–93. doi:10.1007/978-3-7091-6721-2_7. ISBN 978-3-211-40776-9. PMID 15068241.
{{cite journal}}: CS1 maint: periodical has ISBN (link) - 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.
- Vieira AR, McHenry TG, Daack-Hirsch S, Murray JC, Marazita ML (September 2008). "Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts". Genetics in Medicine. 10 (9): 668–674. doi:10.1097/GIM.0b013e3181833793. PMC 2734954. PMID 18978678.
- Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Molecular Systems Biology. 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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