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Aliases for GART Gene

Aliases for GART Gene

  • Phosphoribosylglycinamide Formyltransferase, Phosphoribosylglycinamide Synthetase, Phosphoribosylaminoimidazole Synthetase 2 3 5
  • Glycinamide Ribonucleotide Synthetase-Aminoimidazole Ribonucleotide Synthetase-Glycinamide Ribonucleotide Transformylase 2 3
  • Trifunctional Purine Biosynthetic Protein Adenosine-3 2 3
  • Glycinamide Ribonucleotide Formyltransferase 2 3
  • GAR Transformylase 2 3
  • PGFT 3 4
  • PRGS 3 4
  • EC 56
  • EC 56
  • GARTF 3
  • AIRS 3
  • GARS 3
  • PAIS 3

External Ids for GART Gene

Previous HGNC Symbols for GART Gene

  • PRGS
  • PGFT

Previous GeneCards Identifiers for GART Gene

  • GC21M031453
  • GC21M031536
  • GC21M033796
  • GC21M033798
  • GC21M034870
  • GC21M020354

Summaries for GART Gene

Entrez Gene Summary for GART Gene

  • The protein encoded by this gene is a trifunctional polypeptide. It has phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase activity which is required for de novo purine biosynthesis. This enzyme is highly conserved in vertebrates. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for GART Gene

GART (Phosphoribosylglycinamide Formyltransferase, Phosphoribosylglycinamide Synthetase, Phosphoribosylaminoimidazole Synthetase) is a Protein Coding gene. Diseases associated with GART include Ureter Leiomyoma and Intrahepatic Bile Duct Adenoma. Among its related pathways are One carbon pool by folate and Metabolism. Gene Ontology (GO) annotations related to this gene include methyltransferase activity and phosphoribosylamine-glycine ligase activity.

Gene Wiki entry for GART Gene

Additional gene information for GART Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for GART Gene

Genomics for GART Gene

GeneHancer (GH) Regulatory Elements for GART Gene

Promoters and enhancers for GART Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21I033539 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 582.5 +0.5 483 6.5 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 NFYC MEF2D SON GART PAXBP1 TMEM50B DONSON C21orf140 C21orf59 PAXBP1-AS1 DNAJC28 ENSG00000231355
GH21I032769 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 40.6 +772.1 772138 3.9 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 ZNF263 PAXBP1 C21orf62-AS1 TMEM50B SON DONSON C21orf59 EVA1C MIS18A-AS1 URB1 MIS18A
GH21I032611 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 41.4 +931.0 931044 2.9 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 SP3 ZFP41 C21orf59 ENSG00000265590 SCAF4 PAXBP1 SON TMEM50B GART EVA1C MIS18A-AS1 MIS18A
GH21I033323 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 21.3 +218.4 218411 2.6 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 SP3 PPARGC1A MEF2D IFNAR1 PAXBP1 TMEM50B SON EVA1C C21orf59 GART CRYZL1 PAXBP1-AS1 DONSON
GH21I033201 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 28.7 +339.5 339529 4.5 HDGF PKNOX1 SMAD1 SIN3A DMAP1 ZNF48 YY1 ATF7 ZNF548 FOS SON PAXBP1 TMEM50B EVA1C GART DONSON IFNAR2 IFNGR2 URB1 C21orf59
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around GART on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the GART gene promoter:

Genomic Locations for GART Gene

Genomic Locations for GART Gene
39,561 bases
Minus strand

Genomic View for GART Gene

Genes around GART on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GART Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for GART Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for GART Gene

Proteins for GART Gene

  • Protein details for GART Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Trifunctional purine biosynthetic protein adenosine-3
    Protein Accession:
    Secondary Accessions:
    • A8K945
    • A8KA32
    • D3DSF3
    • D3DSF4
    • O14659
    • Q52M77

    Protein attributes for GART Gene

    1010 amino acids
    Molecular mass:
    107767 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for GART Gene

    Alternative splice isoforms for GART Gene


neXtProt entry for GART Gene

Selected DME Specific Peptides for GART Gene


Post-translational modifications for GART Gene

  • Ubiquitination at posLast=2828, isoforms=244, posLast=107107, isoforms=2125, isoforms=2148, posLast=156156, isoforms=2162, posLast=251251, isoforms=2285, posLast=467467, posLast=480480, posLast=485485, isoforms=676, isoforms=697, isoforms=743, isoforms=779, isoforms=852, and isoforms=910

Domains & Families for GART Gene

Gene Families for GART Gene

Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry



  • In the N-terminal section; belongs to the GARS family.
  • In the N-terminal section; belongs to the GARS family.
  • In the central section; belongs to the AIR synthase family.
  • In the C-terminal section; belongs to the GART family.
genes like me logo Genes that share domains with GART: view

Function for GART Gene

Molecular function for GART Gene

GENATLAS Biochemistry:
glycineamide formyltransferase,catalyzing the third step of the de novo purine biosynthesis,leading to formylglycinamide ribonucleotide (FGAR)
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 5-phospho-D-ribosylamine + glycine = ADP + phosphate + N(1)-(5-phospho-D-ribosyl)glycinamide.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 2-(formamido)-N(1)-(5-phospho-D-ribosyl)acetamidine = ADP + phosphate + 5-amino-1-(5-phospho-D-ribosyl)imidazole.
UniProtKB/Swiss-Prot CatalyticActivity:
10-formyltetrahydrofolate + N(1)-(5-phospho-D-ribosyl)glycinamide = tetrahydrofolate + N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide.

Enzyme Numbers (IUBMB) for GART Gene

Phenotypes From GWAS Catalog for GART Gene

Gene Ontology (GO) - Molecular Function for GART Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0004637 phosphoribosylamine-glycine ligase activity TAS,IEA --
GO:0004641 phosphoribosylformylglycinamidine cyclo-ligase activity IEA,TAS --
GO:0004644 phosphoribosylglycinamide formyltransferase activity TAS --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with GART: view
genes like me logo Genes that share phenotypes with GART: view

Animal Models for GART Gene

MGI Knock Outs for GART:
  • Gart tm1b(EUCOMM)Wtsi

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for GART Gene

Localization for GART Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for GART gene
Compartment Confidence
extracellular 5
cytosol 5
mitochondrion 3
nucleus 3
plasma membrane 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Mitochondria (1)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GART Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA,IDA 20458337
genes like me logo Genes that share ontologies with GART: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for GART Gene

Pathways & Interactions for GART Gene

genes like me logo Genes that share pathways with GART: view

UniProtKB/Swiss-Prot P22102-PUR2_HUMAN

  • Pathway: Purine metabolism; IMP biosynthesis via de novo pathway; 5-amino-1-(5-phospho-D-ribosyl)imidazole from N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide: step 2/2.
  • Pathway: Purine metabolism; IMP biosynthesis via de novo pathway; N(1)-(5-phospho-D-ribosyl)glycinamide from 5-phospho-alpha-D-ribose 1-diphosphate: step 2/2.
  • Pathway: Purine metabolism; IMP biosynthesis via de novo pathway; N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide from N(1)-(5-phospho-D-ribosyl)glycinamide (10-formyl THF route): step 1/1.

Gene Ontology (GO) - Biological Process for GART Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003360 brainstem development IEA --
GO:0006164 purine nucleotide biosynthetic process IEA --
GO:0006189 de novo IMP biosynthetic process IEA --
GO:0006544 glycine metabolic process IEA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with GART: view

No data available for SIGNOR curated interactions for GART Gene

Drugs & Compounds for GART Gene

(15) Drugs for GART Gene - From: DrugBank, DGIdb, FDA Approved Drugs, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pemetrexed Approved, Investigational Pharma Target, inhibitor, Biomarker TS, DHFR,GARFT and AICARFT inhibitor, DHFR and Thymidylate synthase inhibitor, Anti-Folates 674
Alimta Approved February 2004 Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Glycine Approved, Vet_approved Nutra Full agonist, Agonist 254

(21) Additional Compounds for GART Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 10-Formyl-(6RS)-tetrahydrofolic acid
  • 10-Formyl-H4PteGlu1
  • 10-Formyl-tetrahydrofolate
  • 10-Formyl-THF
  • 10-Formyltetrahydrofolate
  • 1-(5'-Phosphoribosyl)-N-formylglycinamidine
  • 1-Deoxy-1-[2-(formamido)acetimidamido]-D-ribofuranose 5-(dihydrogen phosphate)
  • 2-(Formamido)-N(1)-(5'-phosphoribosyl)acetamidine
  • 2-(Formamido)-N(1)-(5-phospho-D-ribosyl)acetamidine
  • 2-(Formamido)-N1-(5'-phosphoribosyl)acetamidine
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyl-THF
  • 5,10-Methenyltetrahydrofolate
  • Anhydro-leucovorin
  • Anhydro-leucovorin a
  • Anhydroleucovorin
5-Aminoimidazole ribonucleotide
  • 1-(5'-Phosphoribosyl)-5-aminoimidazole
  • 1-(5-Phospho-D-ribosyl)-5-aminoimidazole
  • 5'-Phosphoribosyl-5-aminoimidazole
  • 5-Amino-1-(5-phospho-D-ribosyl)imidazole
  • 5-Aminoimidazole ribonucleotide
  • 5-P-beta-D-Ribosyl-amine
  • 5-P-beta-delta-Ribosyl-amine
  • 5-Phospho-beta-D-ribosyl-amine
  • 5-Phospho-beta-D-ribosylamine
  • 5-Phospho-beta-delta-ribosyl-amine
genes like me logo Genes that share compounds with GART: view

Transcripts for GART Gene

Unigene Clusters for GART Gene

Phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for GART Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10a · 10b · 10c ^ 11a · 11b ^ 12a · 12b · 12c ^
SP1: - - - - - -
SP2: - - - - - -
SP3: - - -
SP4: - - -
SP5: - - -
SP6: - - - - -
SP7: -
SP8: -
SP10: - -
SP12: - - - - - - -
SP13: - - - -
SP14: - -
SP15: - -
SP16: -
SP17: - -

ExUns: 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25a · 25b ^ 26 ^ 27 ^ 28
SP1: - - -
SP2: - - -
SP3: - - -
SP4: -
SP11: - -
SP16: -

Relevant External Links for GART Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for GART Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for GART Gene

Protein differential expression in normal tissues from HIPED for GART Gene

This gene is overexpressed in Lymph node (11.0) and Peripheral blood mononuclear cells (6.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for GART Gene

Protein tissue co-expression partners for GART Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of GART Gene:


SOURCE GeneReport for Unigene cluster for GART Gene:


Evidence on tissue expression from TISSUES for GART Gene

  • Nervous system(4.8)
  • Liver(4.5)
  • Eye(2)
genes like me logo Genes that share expression patterns with GART: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for GART Gene

Orthologs for GART Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for GART Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia GART 33 34
  • 99.5 (n)
(Canis familiaris)
Mammalia -- 34
  • 90 (a)
LOC100856570 33
  • 89.31 (n)
-- 34
  • 87 (a)
(Bos Taurus)
Mammalia GART 33 34
  • 88.02 (n)
(Rattus norvegicus)
Mammalia Gart 33
  • 83.89 (n)
(Mus musculus)
Mammalia Gart 33 16 34
  • 83.2 (n)
(Monodelphis domestica)
Mammalia -- 34
  • 80 (a)
-- 34
  • 79 (a)
(Ornithorhynchus anatinus)
Mammalia GART 34
  • 80 (a)
(Gallus gallus)
Aves GART 33 34
  • 73.4 (n)
-- 34
  • 59 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 73 (a)
-- 34
  • 54 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia gart 33
  • 71.33 (n)
Str.2889 33
(Danio rerio)
Actinopterygii gart 33 34
  • 62.73 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009786 33
  • 52.82 (n)
fruit fly
(Drosophila melanogaster)
Insecta ade3 35 33 34
  • 52.49 (n)
(Caenorhabditis elegans)
Secernentea F38B6.4 35 33 34
  • 52.4 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00957g 33
  • 52.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE5,7 33 34 36 36
  • 51.96 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR254C 33
  • 51.76 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G09830 33
  • 52.82 (n)
(Glycine max)
eudicotyledons Gma.5959 33
(Oryza sativa)
Liliopsida Os12g0197100 33
  • 52.35 (n)
Os.8635 33
(Zea mays)
Liliopsida Zm.12249 33
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ade1 33
  • 53.11 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00177 33
  • 52.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
Species where no ortholog for GART was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for GART Gene

Gene Tree for GART (if available)
Gene Tree for GART (if available)

Paralogs for GART Gene

genes like me logo Genes that share paralogs with GART: view

No data available for Paralogs for GART Gene

Variants for GART Gene

Sequence variations from dbSNP and Humsavar for GART Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000060604 -- 33,529,902(-) A/C intron_variant
rs1000074185 -- 33,524,130(-) G/A 3_prime_UTR_variant, intron_variant
rs1000242638 -- 33,536,361(-) T/C intron_variant
rs1000326362 -- 33,538,407(-) T/A intron_variant
rs1000483573 -- 33,505,244(-) T/C genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for GART Gene

Variant ID Type Subtype PubMed ID
nsv509795 CNV insertion 20534489
nsv1136628 CNV deletion 24896259
esv3646906 CNV loss 21293372

Variation tolerance for GART Gene

Residual Variation Intolerance Score: 56.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.88; 83.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for GART Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for GART Gene

Disorders for GART Gene

MalaCards: The human disease database

(3) MalaCards diseases for GART Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
ureter leiomyoma
  • ureteral leiomyoma
intrahepatic bile duct adenoma
  • adenoma of intrahepatic bile duct
  • mosaicism, chromosomal
- elite association - COSMIC cancer census association via MalaCards
Search GART in MalaCards View complete list of genes associated with diseases

Additional Disease Information for GART

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with GART: view

No data available for UniProtKB/Swiss-Prot and Genatlas for GART Gene

Publications for GART Gene

  1. Intronic polyadenylation in the human glycinamide ribonucleotide formyltransferase gene. (PMID: 9224613) Kan JL … Moran RG (Nucleic acids research 1997) 3 4 22 58
  2. Cloning and in vivo expression of the human GART gene using yeast artificial chromosomes. (PMID: 2050105) Gnirke A … Olson MV (The EMBO journal 1991) 2 3 22 58
  3. 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. (PMID: 2147474) Aimi J … Dixon JE (Nucleic acids research 1990) 3 4 22 58
  4. Cloning of three human multifunctional de novo purine biosynthetic genes by functional complementation of yeast mutations. (PMID: 2183217) Schild D … Barr PJ (Proceedings of the National Academy of Sciences of the United States of America 1990) 3 4 22 58
  5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PMID: 20634891) Jugessur A … Murray JC (PloS one 2010) 3 44 58

Products for GART Gene

Sources for GART Gene