Trifunctional purine biosynthetic protein adenosine-3

Trifunctional purine biosynthetic protein adenosine-3 is an enzyme that in humans is encoded by the GART gene.[5]

GART
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1MEJ, 1MEN, 1MEO, 1NJS, 1RBM, 1RBQ, 1RBY, 1RBZ, 1RC0, 1RC1, 1ZLX, 1ZLY, 2QK4, 2V9Y, 4EW1, 4EW2, 4EW3, 4ZZ2, 4ZZ3, 4ZZ1, 4ZYV, 4ZZ0, 4ZYY, 4ZYX, 4ZYZ, 4ZYT, 4ZYU, 4ZYW
Identifiers
Aliases	GART, AIRS, GARS, GARTF, PAIS, PGFT, PRGS, phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
External IDs	OMIM: 138440 MGI: 95654 HomoloGene: 637 GeneCards: GART
Gene location (Human) Chr. Chromosome 21 (human)[1] Band 21q22.11 Start 33,503,931 bp[1] End 33,543,491 bp[1]
Gene location (Mouse) Chr. Chromosome 16 (mouse)[2] Band 16 C3.3|16 53.18 cM Start 91,621,186 bp[2] End 91,646,952 bp[2]
Gene ontology Molecular function • transferase activity • nucleotide binding • phosphoribosylglycinamide formyltransferase activity • metal ion binding • ligase activity • catalytic activity • hydroxymethyl-, formyl- and related transferase activity • ATP binding • phosphoribosylformylglycinamidine cyclo-ligase activity • phosphoribosylamine-glycine ligase activity Cellular component • cytoplasm • cytosol • extracellular exosome Biological process • purine nucleotide biosynthetic process • glycine metabolic process • 'de novo' IMP biosynthetic process • brainstem development • biosynthetic process • response to organic substance • cerebellum development • ribonucleoside monophosphate biosynthetic process • tetrahydrofolate biosynthetic process • response to inorganic substance • purine ribonucleoside monophosphate biosynthetic process • cerebral cortex development • metabolism • purine nucleobase biosynthetic process • adenine biosynthetic process Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	2618	14450
Ensembl	ENSG00000262473 ENSG00000159131	ENSMUSG00000022962
UniProt	P22102	Q64737
RefSeq (mRNA)	NM_000819 NM_001136005 NM_001136006 NM_175085	NM_010256 NM_001357351
RefSeq (protein)	NP_000810 NP_001129477 NP_001129478 NP_780294	NP_034386 NP_001344280
Location (UCSC)	Chr 21: 33.5 – 33.54 Mb	Chr 16: 91.62 – 91.65 Mb
PubMed search	[3]	[4]
Wikidata
View/Edit Human View/Edit Mouse

This protein is a trifunctional polypeptide. It has Phosphoribosylamine—glycine ligase (EC 6.3.4.13), Phosphoribosylglycinamide formyltransferase (EC 2.1.2.2), AIR synthetase (FGAM cyclase) (EC 6.3.3.1) activity which is required for de novo purine biosynthesis.

References

1. ENSG00000159131 GRCh38: Ensembl release 89: ENSG00000262473, ENSG00000159131 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000022962 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. 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. PMC 452831. PMID 2050105.

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. PMC 1356129. 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. PMC 2734952. 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. doi:10.1093/hmg/6.12.2043. PMID 9328467.
• Kan JL, Moran RG (1997). "Intronic polyadenylation in the human glycinamide ribonucleotide formyltransferase gene". Nucleic Acids Res. 25 (15): 3118–23. doi:10.1093/nar/25.15.3118. PMC 146841. 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. doi:10.1021/bi020522m. 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. PMC 528928. 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. PMC 2518408. 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. PMC 139241. 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. doi:10.1016/s0079-6603(08)60578-4. 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. PMC 2734954. 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 (1): 89. doi:10.1038/msb4100134. PMC 1847948. 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.

External links

• Phosphoribosylglycinamide+formyltransferase at the US National Library of Medicine Medical Subject Headings (MeSH)