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... See more...

Aliases for GART Gene

Aliases for GART Gene

  • Phosphoribosylglycinamide Formyltransferase, Phosphoribosylglycinamide Synthetase, Phosphoribosylaminoimidazole Synthetase 2 3 5
  • Trifunctional Purine Biosynthetic Protein Adenosine-3 2 3 4
  • Glycinamide Ribonucleotide Synthetase-Aminoimidazole Ribonucleotide Synthetase-Glycinamide Ribonucleotide Transformylase 2 3
  • Glycinamide Ribonucleotide Formyltransferase 2 3
  • GAR Transformylase 2 3
  • GARS-AIRS-GART 2 3
  • PGFT 3 4
  • PRGS 3 4
  • EC 6.3.4.13 50
  • EC 6.3.3.1 50
  • GARTF 3
  • AIRS 3
  • GARS 3
  • PAIS 3
  • GART 5

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 Tracheoesophageal Fistula With Or Without Esophageal Atresia and Nondisjunction. Among its related pathways are One carbon pool by folate and Folate Metabolism. Gene Ontology (GO) annotations related to this gene include methyltransferase activity and phosphoribosylamine-glycine ligase activity.

Gene Wiki entry for GART Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for GART Gene

Genomics for GART Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for GART Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J033539 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 281.9 +0.4 419 6.7 SP1 ZNF207 NCOR1 MYC IKZF1 SSRP1 ZNF580 ZNF592 POLR2A CEBPA SON TMEM50B GART HSALNG0132781 PAXBP1 DONSON CFAP298 FAM243A PAXBP1-AS1 DNAJC28
GH21J033524 Promoter 0.4 EPDnew 250.4 +18.6 18555 0.1 MEIS2 GART HSALNG0132777 HSALNG0132778 SON DNAJC28
GH21J032769 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 44.5 +772.3 772341 4.3 BCLAF1 SP1 ZNF207 NCOR1 MYC ZNF600 IKZF1 SIX5 SSRP1 ZNF580 PAXBP1 C21orf62-AS1 SON TMEM50B DONSON CFAP298 MIS18A GART EVA1C URB1
GH21J032611 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 41.4 +931.2 931190 3.4 BCLAF1 SP1 ZNF207 MYC NCOR1 IKZF1 ZNF600 SIX5 ZNF580 KLF9 CFAP298 CFAP298-TCP10L SCAF4 PAXBP1 SON TMEM50B GART EVA1C DONSON MIS18A
GH21J033196 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 37.1 +340.9 340890 12.4 NCOR1 ZNF654 IKZF1 ZNF600 JUND ATF2 CEBPA ZNF10 ATF3 BRCA1 SON PAXBP1 TMEM50B EVA1C GART DONSON IFNAR2 IFNGR2 LINC01548 CFAP298
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around GART on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for GART

Top Transcription factor binding sites by QIAGEN in the GART gene promoter:
  • E2F
  • E2F-1
  • Sp1

Genomic Locations for GART Gene

Latest Assembly
chr21:33,503,931-33,543,491
(GRCh38/hg38)
Size:
39,561 bases
Orientation:
Minus strand

Previous Assembly
chr21:34,876,238-34,915,198
(GRCh37/hg19 by Entrez Gene)
Size:
38,961 bases
Orientation:
Minus strand

chr21:34,876,238-34,915,797
(GRCh37/hg19 by Ensembl)
Size:
39,560 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr21(ALT_REF_LOCI_1):108,061-115,588 (-)

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

Selected DME Specific Peptides for GART Gene

P22102:
  • HSNGFSLVR
  • AGFAVGA
  • GPNTGGMG
  • AHITGGG
  • NIPRVLP
  • DGVGTKLK
  • NTGGMGAY
  • SSGLHSNG
  • TDGVGTK
  • HITGGGLLEN
  • GSGGREH
  • YDLAGFAVG
  • EYDLAGF
  • VAMCVND
  • PLFFLDY
  • GGETAEMP
  • VAPGNAGTA

Post-translational modifications for GART Gene

  • Ubiquitination at Lys28, Lys44, Lys107, Lys125, Lys148, Lys156, Lys162, Lys251, Lys285, Lys350, Lys467, Lys480, Lys485, Lys676, Lys697, Lys743, Lys779, Lys852, and Lys910
  • Modification sites at PhosphoSitePlus

Domains & Families for GART Gene

Gene Families for GART Gene

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

Suggested Antigen Peptide Sequences for GART Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51866, highly similar to Trifunctional purine biosynthetic protein adenosine-3 (B4DJ93_HUMAN)
  • Trifunctional purine biosynthetic protein adenosine-3 (PUR2_HUMAN)
  • Phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (Q3B7A7_HUMAN)
  • Glycinamide ribonucleotide formyltransferase (Q71VH3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22102

UniProtKB/Swiss-Prot:

PUR2_HUMAN :
  • In the N-terminal section; belongs to the GARS family.
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

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-phospho-beta-D-ribosylamine + ATP + glycine = ADP + H(+) + N(1)-(5-phospho-beta-D-ribosyl)glycinamide + phosphate; Xref=Rhea:RHEA:17453, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:57305, ChEBI:CHEBI:58681, ChEBI:CHEBI:143788, ChEBI:CHEBI:456216; EC=6.3.4.13;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-formamido-N(1)-(5-O-phospho-beta-D-ribosyl)acetamidine + ATP = 5-amino-1-(5-phospho-beta-D-ribosyl)imidazole + ADP + H(+) + phosphate; Xref=Rhea:RHEA:23032, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:137981, ChEBI:CHEBI:147287, ChEBI:CHEBI:456216; EC=6.3.3.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=(6S)-10-formyltetrahydrofolate + N(1)-(5-phospho-beta-D-ribosyl)glycinamide = (6S)-5,6,7,8-tetrahydrofolate + H(+) + N(2)-formyl-N(1)-(5-phospho-beta-D-ribosyl)glycinamide; Xref=Rhea:RHEA:15053, ChEBI:CHEBI:15378, ChEBI:CHEBI:57453, ChEBI:CHEBI:57454, ChEBI:CHEBI:143788, ChEBI:CHEBI:147286; EC=2.1.2.2;.
GENATLAS Biochemistry:
glycineamide formyltransferase,catalyzing the third step of the de novo purine biosynthesis,leading to formylglycinamide ribonucleotide (FGAR)

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:0000166 nucleotide binding IEA --
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 TAS --
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 Gart<tm1b(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for GART

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GART

Clone products for research

  • Addgene plasmids for GART

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

Localization for GART Gene

Subcellular locations from

COMPARTMENTS
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 4
cytosol 4
mitochondrion 3
nucleus 3
plasma membrane 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for GART Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0070062 extracellular exosome HDA 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 IBA 21873635
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, 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 914
Water Approved Pharma 0
Glycine Approved, Vet_approved Nutra 203
glycinamide ribonucleotide Experimental Pharma Target 0
N-({4-[(1R)-4-[(2R,4S,5S)-2,4-diamino-6-oxohexahydropyrimidin-5-yl]-1-(2,2,2-trifluoro-1,1-dihydroxyethyl)butyl]phenyl}carbonyl)-L-glutamic acid Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
10-formyltetrahydrofolate
  • 10-Formyl-THF
  • 10-Formyltetrahydrofolic acid
  • 10-Formyl-(6Rs)-tetrahydrofolic acid
  • 10-Formyl-H4pteglu1
  • 10-Formyl-tetrahydrofolate
2800-34-2
5,10-Methenyltetrahydrofolic acid
  • 5,10-Methenyltetrahydrofolate
  • 5,10-Methenyl-THF
  • 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-beta-D-ribofuranosyl-5'-(dihydrogen phosphate)-imidazole
  • 5-Amino-1-ribofuranosylimidazole 5'-phosphate
25635-88-5
5-Phosphoribosylamine
  • 5-Phospho-beta-D-ribosylamine
  • 5-Phospho-D-ribosylamine
  • 5-Phosphoribosyl-1-amine
  • 5-Phospho-b-D-ribosylamine
  • 5-Phospho-β-D-ribosylamine
6062-06-2
5'-Phosphoribosyl-N-formylglycinamide
  • N-Formyl-gar
  • N-Formylglycinamide ribonucleotide
  • N2-Formyl-N1-(5-phospho-D-ribosyl)glycinamide
  • 5'-p-Ribosyl-N-formylglycineamide
  • 5'-Phosphoribosyl-formylglycinamide
349-34-8
genes like me logo Genes that share compounds with GART: view

Transcripts for GART Gene

mRNA/cDNA for GART Gene

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for GART

Clone products for research

  • Addgene plasmids for GART

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

Expression for GART Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for GART Gene



Protein tissue co-expression partners for GART Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for GART

SOURCE GeneReport for Unigene cluster for GART Gene:

Hs.473648

Evidence on tissue expression from TISSUES for GART Gene

  • Nervous system(4.9)
  • Liver(4.6)
  • Blood(4.5)
  • Intestine(2.5)
  • Heart(2.4)
  • Eye(2.4)
  • Skin(2.3)
  • Lymph node(2.2)
  • Bone marrow(2.2)
  • Kidney(2.1)
  • Lung(2.1)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with GART: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia GART 29 30
  • 99.5 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 90 (a)
OneToMany
LOC100856570 29
  • 89.31 (n)
-- 30
  • 87 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia GART 29 30
  • 88.02 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Gart 29
  • 83.89 (n)
Mouse
(Mus musculus)
Mammalia Gart 29 16 30
  • 83.2 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia GART 30
  • 80 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 80 (a)
OneToMany
-- 30
  • 79 (a)
OneToMany
Chicken
(Gallus gallus)
Aves GART 29 30
  • 73.4 (n)
OneToMany
-- 30
  • 59 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 73 (a)
OneToMany
-- 30
  • 54 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia gart 29
  • 71.33 (n)
Str.2889 29
Zebrafish
(Danio rerio)
Actinopterygii gart 29 30
  • 62.73 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009786 29
  • 52.82 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta ade3 29 30 31
  • 52.49 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea F38B6.4 29 30 31
  • 52.4 (n)
OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A00957g 29
  • 52.49 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ADE5,7 29 30 32 32 32
  • 51.96 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AFR254C 29
  • 51.76 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G09830 29
  • 52.82 (n)
Soybean
(Glycine max)
eudicotyledons Gma.5959 29
Rice
(Oryza sativa)
Liliopsida Os12g0197100 29
  • 52.35 (n)
Os.8635 29
Corn
(Zea mays)
Liliopsida Zm.12249 29
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ade1 29
  • 53.11 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU00177 29
  • 52.32 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for GART: view image
Alliance of Genome Resources:
Additional Orthologs for GART

Paralogs for GART Gene

(4) SIMAP similar genes for GART Gene using alignment to 10 proteins:

  • PUR2_HUMAN
  • B4DJ93_HUMAN
  • C9JBJ1_HUMAN
  • C9JKQ7_HUMAN
  • C9JTV6_HUMAN
  • C9JZG2_HUMAN
  • F8WD69_HUMAN
  • H7C366_HUMAN
  • Q3B7A7_HUMAN
  • Q71VH3_HUMAN
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for GART Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
916559 Likely Pathogenic: Tracheoesophageal fistula 33,517,404(-) A/C
NM_000819.5(GART):c.1907T>G (p.Leu636Arg)
MISSENSE
rs1804387 -- p.Leu21Phe
rs34588874 -- p.Pro641Ala
rs35927582 -- p.Asp510Gly
rs8788 -- p.Val421Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for GART Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for GART Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
GART
Leiden Open Variation Database (LOVD)
GART

SNP Genotyping and Copy Number Assays for research

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

Disorders for GART Gene

MalaCards: The human disease database

(7) MalaCards diseases for GART Gene - From: CVR, COP, and GCD

Disorder Aliases PubMed IDs
tracheoesophageal fistula with or without esophageal atresia
  • esophageal atresia with or without tracheoesophageal fistula
nondisjunction
  • mosaicism, chromosomal
lung non-squamous non-small cell carcinoma
  • non- squamous nsclc
down syndrome
  • trisomy 21
dystonia 16
  • dyt16
- 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

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Open Targets Platform
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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
  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
  3. 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
  4. 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
  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 40

Products for GART Gene

Sources for GART Gene