Trifunctional purine biosynthetic protein adenosine-3

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

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; OMA:GART - orthologs
Gene location (Human) Chr. Chromosome 21 (human) Band 21q22.11 Start 33,503,931 bp End 33,543,491 bp
Gene location (Mouse) Chr. Chromosome 16 (mouse) Band 16 C3.3|16 53.18 cM Start 91,418,074 bp End 91,443,840 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in ventricular zone ganglionic eminence rectum smooth muscle tissue epithelium of colon body of pancreas gastric mucosa trabecular bone islet of Langerhans tonsil Top expressed in Ileal epithelium epiblast primitive streak yolk sac embryo somite extraocular muscle ventricular zone embryo morula More reference expression data BioGPS n/a
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 biosynthesis 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: 91.42 – 91.44 Mb PubMed search
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.

Further reading

• Hattori M, Fujiyama A, Taylor TD, et al. (2000). "The DNA sequence of human chromosome 21". Nature. 405 (6784): 311–9. Bibcode:2000Natur.405..311H. 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. S2CID 5102914.
• 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 Research Part A: Clinical and Molecular Teratology. 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. Bibcode:2002PNAS...9916899M. 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. S2CID 7200157.
• Zalkin H, Dixon JE (1992). "De novo purine nucleotide biosynthesis". Prog. Nucleic Acid Res. Mol. Biol. Progress in Nucleic Acid Research and Molecular Biology. 42: 259–87. doi:10.1016/s0079-6603(08)60578-4. ISBN 9780125400428. 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. S2CID 34759623.

External links

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