GNMT

From Wikipedia, the free encyclopedia


Glycine N-methyltransferase
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 MGI1202304 HomoloGene7741
RNA expression pattern

More reference expression data

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)
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:10.1006/geno.2000.6188. 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:10.1007/s00439-001-0648-4. 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:10.1073/pnas.242603899. 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:10.1042/BJ20030502. 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:10.1023/B:BOLI.0000009978.17777.33. 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:10.1101/gr.2596504. 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:10.1038/nature04209. 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:10.1110/ps.072921507. PMID 17660255.