GNMT
From Wikipedia, the free encyclopedia
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Glycine N-methyltransferase
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| PDB rendering based on 1bhj. | |||||||||||
| Available structures: 1bhj, 1d2c, 1d2g, 1d2h, 1kia, 1nbh, 1nbi, 1r74, 1r8x, 1r8y, 1xva, 2azt, 2idj, 2idk | |||||||||||
| Identifiers | |||||||||||
| Symbol(s) | GNMT; | ||||||||||
| External IDs | OMIM: 606628 MGI: 1202304 HomoloGene: 7741 | ||||||||||
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| RNA expression pattern | |||||||||||
| Orthologs | |||||||||||
| Human | Mouse | ||||||||||
| Entrez | 27232 | 14711 | |||||||||
| Ensembl | ENSG00000124713 | ENSMUSG00000002769 | |||||||||
| Uniprot | Q14749 | Q5I0T9 | |||||||||
| Refseq | NM_018960 (mRNA) NP_061833 (protein) |
NM_010321 (mRNA) NP_034451 (protein) |
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| Location | Chr 6: 43.04 - 43.04 Mb | Chr 17: 46.19 - 46.19 Mb | |||||||||
| Pubmed search | [1] | [2] | |||||||||
Glycine N-methyltransferase, also known as GNMT, is a human gene.[1]
Glycine N-methyltransferase (GNMT; EC 2.1.1.20) catalyzes the synthesis of N-methylglycine (sarcosine) from glycine using S-adenosylmethionine (AdoMet) as the methyl donor. The enzyme was first described by Blumenstein and Williams (1960) in guinea pig liver. GNMT acts as an enzyme to regulate the ratio of S-adenosylmethionine to S-adenosylhomocysteine (AdoHcy) and participates in the detoxification pathway in liver cells.[supplied by OMIM][1]
[edit] References
[edit] Further reading
- Wagner C, Decha-Umphai W, Corbin J (1989). "Phosphorylation modulates the activity of glycine N-methyltransferase, a folate binding protein. In vitro phosphorylation is inhibited by the natural folate ligand.". J. Biol. Chem. 264 (16): 9638-42. PMID 2722853.
- Mudd SH, Ebert MH, Scriver CR (1980). "Labile methyl group balances in the human: the role of sarcosine.". Metab. Clin. Exp. 29 (8): 707-20. PMID 6157075.
- Bhat R, Bresnick E (1997). "Glycine N-methyltransferase is an example of functional diversity. Role as a polycyclic aromatic hydrocarbon-binding receptor.". J. Biol. Chem. 272 (34): 21221-6. PMID 9261130.
- Chen YM, Shiu JY, Tzeng SJ, et al. (1998). "Characterization of glycine-N-methyltransferase-gene expression in human hepatocellular carcinoma.". Int. J. Cancer 75 (5): 787-93. PMID 9495250.
- Chen YM, Chen LY, Wong FH, et al. (2000). "Genomic structure, expression, and chromosomal localization of the human glycine N-methyltransferase gene.". Genomics 66 (1): 43-7. doi:. PMID 10843803.
- Mudd SH, Cerone R, Schiaffino MC, et al. (2002). "Glycine N-methyltransferase deficiency: a novel inborn error causing persistent isolated hypermethioninaemia.". J. Inherit. Metab. Dis. 24 (4): 448-64. PMID 11596649.
- Luka Z, Cerone R, Phillips JA, et al. (2002). "Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism.". Hum. Genet. 110 (1): 68-74. doi:. PMID 11810299.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:. PMID 12477932.
- Tseng TL, Shih YP, Huang YC, et al. (2003). "Genotypic and phenotypic characterization of a putative tumor susceptibility gene, GNMT, in liver cancer.". Cancer Res. 63 (3): 647-54. PMID 12566309.
- Møller MT, Samari HR, Fengsrud M, et al. (2003). "Okadaic acid-induced, naringin-sensitive phosphorylation of glycine N-methyltransferase in isolated rat hepatocytes.". Biochem. J. 373 (Pt 2): 505-13. doi:. PMID 12697024.
- Luka Z, Wagner C (2004). "Effect of naturally occurring mutations in human glycine N-methyltransferase on activity and conformation.". Biochem. Biophys. Res. Commun. 312 (4): 1067-72. PMID 14651980.
- Augoustides-Savvopoulou P, Luka Z, Karyda S, et al. (2004). "Glycine N -methyltransferase deficiency: a new patient with a novel mutation.". J. Inherit. Metab. Dis. 26 (8): 745-59. doi:. PMID 14739680.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121-7. doi:. PMID 15489334.
- Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network.". Nature 437 (7062): 1173-8. doi:. PMID 16189514.
- Beagle B, Yang TL, Hung J, et al. (2006). "The glycine N-methyltransferase (GNMT) 1289 C->T variant influences plasma total homocysteine concentrations in young women after restricting folate intake.". J. Nutr. 135 (12): 2780-5. PMID 16317120.
- Luka Z, Pakhomova S, Luka Y, et al. (2007). "Destabilization of human glycine N-methyltransferase by H176N mutation.". Protein Sci. 16 (9): 1957-64. doi:. PMID 17660255.

