Property Summary

NCBI Gene PubMed Count 36
PubMed Score 171.89
PubTator Score 102.69

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (28)

Disease log2 FC p
hepatocellular carcinoma 1.100 3.6e-05
malignant mesothelioma 1.200 3.0e-06
astrocytic glioma 2.200 4.7e-03
ependymoma 2.400 1.9e-02
oligodendroglioma 2.800 3.8e-03
psoriasis 1.100 7.8e-04
glioblastoma 1.400 1.7e-07
osteosarcoma 1.785 6.6e-05
medulloblastoma 1.600 5.6e-05
atypical teratoid/rhabdoid tumor 1.400 1.7e-10
medulloblastoma, large-cell 2.100 7.6e-04
primitive neuroectodermal tumor 1.800 1.9e-05
acute quadriplegic myopathy 1.626 1.0e-10
primary pancreatic ductal adenocarcinoma 1.884 3.2e-03
tuberculosis -1.200 1.6e-04
non-small cell lung cancer 1.285 3.5e-16
intraductal papillary-mucinous carcinoma... 1.200 5.8e-03
intraductal papillary-mucinous neoplasm ... 1.100 1.8e-02
colon cancer 1.500 6.9e-06
lung cancer 2.200 1.2e-05
Breast cancer 2.800 4.0e-02
pediatric high grade glioma 1.400 7.4e-06
pilocytic astrocytoma 1.100 7.8e-06
lung adenocarcinoma 1.600 4.4e-20
nasopharyngeal carcinoma 1.100 4.3e-04
ovarian cancer -1.900 1.1e-09
Gaucher disease type 1 -1.300 8.3e-03
pancreatic cancer 1.600 9.6e-03

Protein-protein Interaction (2)

Gene RIF (17)

PMID Text
25318605 most significant association was detected for GART rs8971. Compared with individuals with the TT genotype, the age- and sex-adjusted odds ratio (OR) for developing HCC was 1.44 (95% confidence interval (CI): 1.03-2.02) among those with the CC genotype
24830618 our clinical and in vitro data indicate that GART expression may be one of the causative factors for a poor prognosis in hepatocellular carcinoma.
24444710 The current results showed that GART expression was associated with glioma grade and that high GART protein expression might be related to poor outcome.
23869564 High-resolution structural data for GART (transformylase domain; purN) reveal new binding mode for lipophilic diastereoisomer inhibitors of GART, folate analogs with anti-leukemic activity.
22931243 Using the SNaPshot assay, evidence presented for allelic nondisjunction at rs363506 in the GRIK1 gene and rs2834235 and rs7283354 in the GARS-AIRS-GART gene in Down syndrome in India.
20634891 Observational study of gene-disease association. (HuGE Navigator)
20631005 GART has an approximate seesaw geometry where terminal enzyme units display high mobility owing to flexible linker segments.
19936946 Observational study of gene-disease association. (HuGE Navigator)
19336370 Observational study of gene-disease association. (HuGE Navigator)
19301155 Performed phylogenetic analysis and report that murine, bovine and chimpanzee sequences are the nearest neighbors of human GARS-AIRS-GART and that endo-duplication of the AIRS protein is restricted to insect orthologs.
19161160 Observational study of gene-disease association. (HuGE Navigator)
18978678 Observational study of gene-disease association. (HuGE Navigator)
17902044 CP2/LBP-1c/LSF as a factor that likely mediates enhanced transcription of GARS-AIRS-GART in Down syndrome-related Alzheimer disease.
17198385 Site-directed mutagenesis was employed to probe the role of the strictly conserved active site residues, N106, H108, and D144, and the semiconserved K170 in substrate binding and catalysis by glycinamide ribonucleotide transformylase (GART) .
16467096 The Expression of baseline GARTF tended to be higher in responders but this association was not significant.
16026156 Substrate/cosubstrate flexibility and cosubstrate preactivation are critical for the catalytic mechanism of human GART
12450384 The pH-dependent activity in human GART is due to its inability to bind the substrate, beta-glycinamide ribonucleotide, at low pH on the basis of structural studies at high and low pH.

AA Sequence

MAARVLIIGSGGREHTLAWKLAQSHHVKQVLVAPGNAGTACSEKISNTAISISDHTALAQFCKEKKIEFV      1 - 70
VVGPEAPLAAGIVGNLRSAGVQCFGPTAEAAQLESSKRFAKEFMDRHGIPTAQWKAFTKPEEACSFILSA     71 - 140
DFPALVVKASGLAAGKGVIVAKSKEEACKAVQEIMQEKAFGAAGETIVIEELLDGEEVSCLCFTDGKTVA    141 - 210
PMPPAQDHKRLLEGDGGPNTGGMGAYCPAPQVSNDLLLKIKDTVLQRTVDGMQQEGTPYTGILYAGIMLT    211 - 280
KNGPKVLEFNCRFGDPECQVILPLLKSDLYEVIQSTLDGLLCTSLPVWLENHTALTVVMASKGYPGDYTK    281 - 350
GVEITGFPEAQALGLEVFHAGTALKNGKVVTHGGRVLAVTAIRENLISALEEAKKGLAAIKFEGAIYRKD    351 - 420
VGFRAIAFLQQPRSLTYKESGVDIAAGNMLVKKIQPLAKATSRSGCKVDLGGFAGLFDLKAAGFKDPLLA    421 - 490
SGTDGVGTKLKIAQLCNKHDTIGQDLVAMCVNDILAQGAEPLFFLDYFSCGKLDLSVTEAVVAGIAKACG    491 - 560
KAGCALLGGETAEMPDMYPPGEYDLAGFAVGAMERDQKLPHLERITEGDVVVGIASSGLHSNGFSLVRKI    561 - 630
VAKSSLQYSSPAPDGCGDQTLGDLLLTPTRIYSHSLLPVLRSGHVKAFAHITGGGLLENIPRVLPEKLGV    631 - 700
DLDAQTWRIPRVFSWLQQEGHLSEEEMARTFNCGVGAVLVVSKEQTEQILRDIQQHKEEAWVIGSVVARA    701 - 770
EGSPRVKVKNLIESMQINGSVLKNGSLTNHFSFEKKKARVAVLISGTGSNLQALIDSTREPNSSAQIDIV    771 - 840
ISNKAAVAGLDKAERAGIPTRVINHKLYKNRVEFDSAIDLVLEEFSIDIVCLAGFMRILSGPFVQKWNGK    841 - 910
MLNIHPSLLPSFKGSNAHEQALETGVTVTGCTVHFVAEDVDAGQIILQEAVPVKRGDTVATLSERVKLAE    911 - 980
HKIFPAALQLVASGTVQLGENGKICWVKEE                                            981 - 1010
//

Text Mined References (42)

PMID Year Title
25318605 2015 Genetic variations in the one-carbon metabolism pathway genes and susceptibility to hepatocellular carcinoma risk: a case-control study.
25201988 2014 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
24830618 2014 Increased expression of glycinamide ribonucleotide transformylase is associated with a poor prognosis in hepatocellular carcinoma, and it promotes liver cancer cell proliferation.
24444710 2014 Glycinamide ribonucleotide formyl transferase is frequently overexpressed in glioma and critically regulates the proliferation of glioma cells.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23869564 2013 Biological and structural evaluation of 10R- and 10S-methylthio-DDACTHF reveals a new role for sulfur in inhibition of glycinamide ribonucleotide transformylase.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
22931243 2012 SNaPshot Assay in Quantitative Detection of Allelic Nondisjunction in Down Syndrome.
21269460 2011 Initial characterization of the human central proteome.
20634891 2010 Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
20631005 2010 Structural studies of tri-functional human GART.
20458337 MHC class II-associated proteins in B-cell exosomes and potential functional implications for exosome biogenesis.
19936946 2010 Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer.
19608861 2009 Lysine acetylation targets protein complexes and co-regulates major cellular functions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19336370 2009 Determination of genetic predisposition to patent ductus arteriosus in preterm infants.
19301155 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.
19161160 2009 An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1).
18978678 2008 Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17902044 2007 Potential interaction between the GARS-AIRS-GART Gene and CP2/LBP-1c/LSF transcription factor in Down syndrome-related Alzheimer disease.
17353931 2007 Large-scale mapping of human protein-protein interactions by mass spectrometry.
17198385 2007 Human glycinamide ribonucleotide transformylase: active site mutants as mechanistic probes.
16467096 2006 A phase II trial of pemetrexed in advanced breast cancer: clinical response and association with molecular target expression.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16026156 2005 The apo and ternary complex structures of a chemotherapeutic target: human glycinamide ribonucleotide transformylase.
15592455 2005 Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12755606 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.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12450384 2002 Crystal structures of human GAR Tfase at low and high pH and with substrate beta-GAR.
10830953 2000 The DNA sequence of human chromosome 21.
9328467 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.
9224613 1997 Intronic polyadenylation in the human glycinamide ribonucleotide formyltransferase gene.
8299947 1993 Mouse cDNAs encoding a trifunctional protein of de novo purine synthesis and a related single-domain glycinamide ribonucleotide synthetase.
6232198 1984 Assignment of human phosphoribosylglycinamide synthetase locus to region 21q221.
2183217 1990 Cloning of three human multifunctional de novo purine biosynthetic genes by functional complementation of yeast mutations.
2147474 1990 De novo purine nucleotide biosynthesis: cloning of human and avian cDNAs encoding the trifunctional glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase by functional complementation in E. coli.
2050105 1991 Cloning and in vivo expression of the human GART gene using yeast artificial chromosomes.
1574589 1992 De novo purine nucleotide biosynthesis.