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Aliases for GART Gene

Aliases for GART Gene

  • Phosphoribosylglycinamide Formyltransferase, Phosphoribosylglycinamide Synthetase, Phosphoribosylaminoimidazole Synthetase 2 3 5
  • PGFT 3 4
  • PRGS 3 4
  • Trifunctional Purine Biosynthetic Protein Adenosine-3 3
  • Glycinamide Ribonucleotide Formyltransferase 3
  • EC 6.3.4.13 61
  • EC 6.3.3.1 61
  • 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 Intrahepatic Bile Duct Adenoma and Ureter Leiomyoma. Among its related pathways are Metabolism and One carbon pool by folate. GO annotations related to this gene include methyltransferase activity and phosphoribosylamine-glycine ligase activity.

Gene Wiki entry for GART Gene

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

Genomics for GART Gene

Regulatory Elements for GART Gene

Enhancers for GART Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH21F033378 1 FANTOM5 Ensembl ENCODE 10.4 +159.4 159391 11.4 HDGF PKNOX1 ARNT MLX WRNIP1 ZFP64 ARID4B YBX1 DMAP1 FOS IFNGR2 IFNAR2 IL10RB CRYZL1 GART EXOSC3P1 IFNAR1 TMEM50B SON OLIG1
GH21F033400 1.3 FANTOM5 ENCODE 5.9 +139.5 139542 6.7 CREB3L1 MLX WRNIP1 ARID4B SIN3A ZNF2 YY1 FOS ZNF263 SP3 IFNGR2 TMEM50B IFNAR2 C21orf140 RPS5P3 ENSG00000231355 ENSG00000249624 DNAJC28 IL10RB GART
GH21F033587 0.2 ENCODE 5.8 -45.0 -44972 2.9 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 KLF13 SP3 REST GART IFNGR2 DONSON GC21P033561 GC21P033558
GH21F033654 0.9 Ensembl ENCODE 5.5 -112.7 -112729 3.6 PKNOX1 ARNT SIN3A ZNF766 CBX5 FOS KLF13 SP3 REST SMARCA4 ITSN1 TMEM50B ATP5O ENSG00000249209 GART LOC388820 CRYZL1 GC21P033897
GH21F033078 1.6 FANTOM5 Ensembl ENCODE 5.4 +464.4 464404 0.8 HDGF PKNOX1 ATF1 GLIS2 FOS JUNB TBX21 SMARCA4 GLIS1 NBN IFNGR2 GART IFNAR2 IL10RB SON OLIG1 OLIG2 IFNAR1 SYNJ1 ENSG00000227757
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around GART on UCSC Golden Path with GeneCards custom track

Promoters for GART Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000612962 291 4801 HDGF PKNOX1 ARNT CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207

Genomic Location for GART Gene

Chromosome:
21
Start:
33,503,931 bp from pter
End:
33,543,491 bp from pter
Size:
39,561 bases
Orientation:
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:
    P22102-PUR2_HUMAN
    Recommended name:
    Trifunctional purine biosynthetic protein adenosine-3
    Protein Accession:
    P22102
    Secondary Accessions:
    • A8K945
    • A8KA32
    • D3DSF3
    • D3DSF4
    • O14659
    • Q52M77

    Protein attributes for GART Gene

    Size:
    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

    UniProtKB/Swiss-Prot:

neXtProt entry for GART Gene

Post-translational modifications for GART Gene

  • Ubiquitination at Lys 28, Lys 44, Lys 107, Lys 125, Lys 148, Lys 156, Lys 162, Lys 251, Lys 285, Lys 467, Lys 480, Lys 485, Lys 676, Lys 697, Lys 743, Lys 779, Lys 852, and Lys 910
  • Modification sites at PhosphoSitePlus

Domains & Families for GART Gene

Graphical View of Domain Structure for InterPro Entry

P22102

UniProtKB/Swiss-Prot:

PUR2_HUMAN :
  • Contains 1 ATP-grasp domain.
  • In the N-terminal section; belongs to the GARS family.
Domain:
  • Contains 1 ATP-grasp domain.
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

No data available for Gene Families for GART Gene

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

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 IEA,TAS --
GO:0004641 phosphoribosylformylglycinamidine cyclo-ligase activity IEA,TAS --
GO:0004644 phosphoribosylglycinamide formyltransferase activity IEA,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

  • Taconic Biosciences Mouse Models for GART

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for GART Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for GART Gene COMPARTMENTS Subcellular localization image for GART gene
Compartment Confidence
cytosol 5
extracellular 5
mitochondrion 3
nucleus 3
endoplasmic reticulum 1
peroxisome 1
plasma membrane 1

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 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 inhibitor, Biomarker, Target TS, DHFR,GARFT and AICARFT inhibitor, DHFR and Thymidylate synthase inhibitor, Anti-Folates 617
Alimta Approved February 2004 Pharma 0
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Adenosine triphosphate Approved Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
10-formyltetrahydrofolate
  • 10-Formyl-(6RS)-tetrahydrofolic acid
  • 10-Formyl-H4PteGlu1
  • 10-Formyl-tetrahydrofolate
  • 10-Formyl-THF
  • 10-Formyltetrahydrofolate
2800-34-2
2-(Formamido)-N1-(5-phospho-D-ribosyl)acetamidine
  • 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
6157-85-3
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyl-THF
  • 5,10-Methenyltetrahydrofolate
  • Anhydro-leucovorin
  • Anhydro-leucovorin a
  • Anhydroleucovorin
7444-29-3
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
25635-88-5
5-Phosphoribosylamine
  • 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

Flow Cytometry 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: -
SP9:
SP10: - -
SP11:
SP12: - - - - - - -
SP13: - - - -
SP14: - -
SP15: - -
SP16: -
SP17: - -
SP18:

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: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: - -
SP12:
SP13:
SP14:
SP15:
SP16: -
SP17:
SP18:

Relevant External Links for GART Gene

GeneLoc Exon Structure for
GART
ECgene alternative splicing isoforms for
GART

Expression for GART Gene

mRNA expression in normal human tissues 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:

GART

SOURCE GeneReport for Unigene cluster for GART Gene:

Hs.473648
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 and mRNA Expression by UniProt/SwissProt 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
chimpanzee
(Pan troglodytes)
Mammalia GART 34 35
  • 99.5 (n)
dog
(Canis familiaris)
Mammalia -- 35
  • 90 (a)
OneToMany
LOC100856570 34
  • 89.31 (n)
-- 35
  • 87 (a)
OneToMany
cow
(Bos Taurus)
Mammalia GART 34 35
  • 88.02 (n)
rat
(Rattus norvegicus)
Mammalia Gart 34
  • 83.89 (n)
mouse
(Mus musculus)
Mammalia Gart 34 16 35
  • 83.2 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 80 (a)
OneToMany
-- 35
  • 79 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia GART 35
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves GART 34 35
  • 73.4 (n)
-- 35
  • 59 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 73 (a)
OneToMany
-- 35
  • 54 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia gart 34
  • 71.33 (n)
Str.2889 34
zebrafish
(Danio rerio)
Actinopterygii gart 34 35
  • 62.73 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009786 34
  • 52.82 (n)
fruit fly
(Drosophila melanogaster)
Insecta ade3 36 34 35
  • 52.49 (n)
worm
(Caenorhabditis elegans)
Secernentea F38B6.4 36 34 35
  • 52.4 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00957g 34
  • 52.49 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE5,7 34 35 37 37
  • 51.96 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AFR254C 34
  • 51.76 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G09830 34
  • 52.82 (n)
soybean
(Glycine max)
eudicotyledons Gma.5959 34
rice
(Oryza sativa)
Liliopsida Os12g0197100 34
  • 52.35 (n)
Os.8635 34
corn
(Zea mays)
Liliopsida Zm.12249 34
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ade1 34
  • 53.11 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU00177 34
  • 52.32 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToOne
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

ENSEMBL:
Gene Tree for GART (if available)
TreeFam:
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 Sequence Context AA Info Type
rs1023147 -- 33,515,864(+) CTTTT(A/G)ACCTA intron-variant
rs1023353 -- 33,516,811(+) ATAAA(G/T)ACAGA intron-variant
rs1041745 -- 33,543,018(+) TGGCC(C/G)GTGCG upstream-variant-2KB
rs1041746 -- 33,543,019(+) GGCCC(C/G)TGCGC upstream-variant-2KB
rs1051053 -- 33,524,117(-) TTTTA(A/T)CACTG intron-variant, utr-variant-3-prime

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

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

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)

Relevant External Links for GART Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GART

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

Disorders for GART Gene

MalaCards: The human disease database

(2) MalaCards diseases for GART Gene - From: DISEASES

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

Relevant External Links for GART

Genetic Association Database (GAD)
GART
Human Genome Epidemiology (HuGE) Navigator
GART
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
GART
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 J.L.C. … Moran R.G. (Nucleic Acids Res. 1997) 3 4 22 64
  2. Cloning and in vivo expression of the human GART gene using yeast artificial chromosomes. (PMID: 2050105) Gnirke A. … Olson M.V. (EMBO J. 1991) 2 3 22 64
  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 J.E. (Nucleic Acids Res. 1990) 3 4 22 64
  4. Cloning of three human multifunctional de novo purine biosynthetic genes by functional complementation of yeast mutations. (PMID: 2183217) Schild D. … Barr P.J. (Proc. Natl. Acad. Sci. U.S.A. 1990) 3 4 22 64
  5. Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer. (PMID: 19936946) Hazra A. … Ogino S. (Cancer Causes Control 2010) 3 46 64

Products for GART Gene

Sources for GART Gene

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