Trifunctional purine biosynthetic protein adenosine-3

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phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
PDB 1rbm EBI.jpg
PDB rendering based on 1rbm.
Available structures
1rbm, 2qk4, 1rbz, 1zlx, 1meo, 1rc1, 1zly, 1men, 1mej, 1rbq, 1rc0, 2v9y, 1rby, 1njs
Identifiers
Symbols GART; PRGS; PGFT; GARS; GARTF; PAIS; MGC47764; AIRS
External IDs OMIM138440 MGI95654 HomoloGene637
Orthologs
Species Human Mouse
Entrez 2618 14450
Ensembl ENSG00000159131 ENSMUSG00000022962
UniProt P22102 Q64737
RefSeq NM_001136005 (mRNA) NM_010256 (mRNA)
NP_000810 (protein) NP_034386 (protein)
Location Chr 21:
33.8 - 33.84 Mb
Chr 16:
91.62 - 91.65 Mb
PubMed search [1] [2]

Trifunctional purine biosynthetic protein adenosine-3 is an enzyme that in humans is encoded by the GART gene.[1]

This protein is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase (EC 6.3.4.13), phosphoribosylglycinamide synthetase (EC 6.3.3.1), phosphoribosylaminoimidazole synthetase (EC 2.1.2.2) activity which is required for de novo purine biosynthesis.

[edit] References

  1. ^ Gnirke A, Barnes TS, Patterson D, Schild D, Featherstone T, Olson MV (July 1991). "Cloning and in vivo expression of the human GART gene using yeast artificial chromosomes". EMBO J. 10 (7): 1629–34. PMID 2050105. 

[edit] Further reading

  • Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21.". Nature 405 (6784): 311-9. doi:10.1038/35012518. PMID 10830953. 
  • Banerjee D, Nandagopal K (2007). "Potential interaction between the GARS-AIRS-GART Gene and CP2/LBP-1c/LSF transcription factor in Down syndrome-related Alzheimer disease.". Cell. Mol. Neurobiol. 27 (8): 1117-26. doi:10.1007/s10571-007-9217-2. PMID 17902044. 
  • Dahms TE, Sainz G, Giroux EL, et al. (2005). "The apo and ternary complex structures of a chemotherapeutic target: human glycinamide ribonucleotide transformylase.". Biochemistry 44 (29): 9841-50. doi:10.1021/bi050307g. PMID 16026156. 
  • Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.". Genome Res. 16 (1): 55-65. doi:10.1101/gr.4039406. PMID 16344560. 
  • Dagle JM, Lepp NT, Cooper ME, et al. (2009). "Determination of genetic predisposition to patent ductus arteriosus in preterm infants.". Pediatrics 123 (4): 1116-23. doi:10.1542/peds.2008-0313. PMID 19336370. 
  • Franke B, Vermeulen SH, Steegers-Theunissen RP, et al. (2009). "An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).". Birth Defects Res. Part A Clin. Mol. Teratol. 85 (3): 216-26. doi:10.1002/bdra.20556. PMID 19161160. 
  • Barbe L, Lundberg E, Oksvold P, et al. (2008). "Toward a confocal subcellular atlas of the human proteome.". Mol. Cell Proteomics 7 (3): 499-508. doi:10.1074/mcp.M700325-MCP200. PMID 18029348. 
  • Zhang Y, Desharnais J, Marsilje TH, et al. (2003). "Rational design, synthesis, evaluation, and crystal structure of a potent inhibitor of human GAR Tfase: 10-(trifluoroacetyl)-5,10-dideazaacyclic-5,6,7,8-tetrahydrofolic acid.". Biochemistry 42 (20): 6043-56. doi:10.1021/bi034219c. PMID 12755606. 
  • Brodsky G, Barnes T, Bleskan J, et al. (1997). "The human GARS-AIRS-GART gene encodes two proteins which are differentially expressed during human brain development and temporally overexpressed in cerebellum of individuals with Down syndrome.". Hum. Mol. Genet. 6 (12): 2043-50. PMID 9328467. 
  • Kan JL, Moran RG (1997). "Intronic polyadenylation in the human glycinamide ribonucleotide formyltransferase gene.". Nucleic Acids Res. 25 (15): 3118-23. PMID 9224613. 
  • Gomez HL, Santillana SL, Vallejos CS, et al. (2006). "A phase II trial of pemetrexed in advanced breast cancer: clinical response and association with molecular target expression.". Clin. Cancer Res. 12 (3 Pt 1): 832-8. doi:10.1158/1078-0432.CCR-05-0295. PMID 16467096. 
  • Zhang Y, Desharnais J, Greasley SE, et al. (2002). "Crystal structures of human GAR Tfase at low and high pH and with substrate beta-GAR.". Biochemistry 41 (48): 14206-15. PMID 12450384. 
  • 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. 
  • Manieri W, Moore ME, Soellner MB, et al. (2007). "Human glycinamide ribonucleotide transformylase: active site mutants as mechanistic probes.". Biochemistry 46 (1): 156-63. doi:10.1021/bi0619270. PMID 17198385. 
  • 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. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Rush J, Moritz A, Lee KA, et al. (2005). "Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.". Nat. Biotechnol. 23 (1): 94-101. doi:10.1038/nbt1046. PMID 15592455. 
  • Zalkin H, Dixon JE (1992). "De novo purine nucleotide biosynthesis.". Prog. Nucleic Acid Res. Mol. Biol. 42: 259-87. PMID 1574589. 
  • 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. PMID 18978678. 
  • Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry.". Mol. Syst. Biol. 3: 89. doi:10.1038/msb4100134. PMID 17353931. 
  • Banerjee D, Nandagopal K (2009). "Phylogenetic analysis and in silico characterization of the GARS-AIRS-GART gene which codes for a tri-functional enzyme protein involved in de novo purine biosynthesis.". Mol. Biotechnol. 42 (3): 306-19. doi:10.1007/s12033-009-9160-1. PMID 19301155. 

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