Trifunctional purine biosynthetic protein adenosine-3

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) [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 91,418,074 bp [2] End 91,443,840 bp [2]
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 [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

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

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. doi:10.1002/j.1460-2075.1991.tb07685.x. 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. 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. PMC   11517324 . 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)