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GART Gene

protein-coding   GIFtS: 69
GCID: GC21M034870

Phosphoribosylglycinamide Formyltransferase, Phosphoribosylglycinamide...


(Previous symbols: PRGS, PGFT)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Phosphoribosylglycinamide Formyltransferase, Phosphoribosylglycinamide
Synthetase, Phosphoribosylaminoimidazole Synthetase1 2
     GARTF2
PGFT1 2 3 5     PAIS2
PRGS1 2 3 5     Trifunctional Purine Biosynthetic Protein Adenosine-32
Phosphoribosylglycinamide Formyltransferase, EC 2.1.2.211     EC 6.3.3.18
AIRS2     EC 6.3.4.138
GARS2     

External Ids:    HGNC: 41631   Entrez Gene: 26182   Ensembl: ENSG000001591317   OMIM: 1384405   UniProtKB: P221023   

Export aliases for GART gene to outside databases

Previous GC identifers: GC21M031453 GC21M031536 GC21M033796 GC21M033798 GC21M020354


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 white piedra, and dermatophytosis. GO annotations related to this gene include methyltransferase activity and phosphoribosylformylglycinamidine cyclo-ligase activity.

Gene Wiki entry for GART (Trifunctional purine biosynthetic protein adenosine-3) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NT_011512.12  NC_018932.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the GART gene promoter:
         E2F-1   E2F   Sp1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): GART promoter sequence

   Search Chromatin IP Primers for GART

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GART


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 21q22.11   Ensembl cytogenetic band:  21q22.11   HGNC cytogenetic band: 21q22.11
Nature(405: 311-319) cytogenetic band:   21q22.11
GART Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GART gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21M034870:   GeneLoc Nature:405,311-319
Start:
34,876,238 bp from pter       20,452,917 bp from centromere
End:
34,915,797 bp from pter 20,491,053 bp from centromere
Size:
39,560 bases 38,137 bases
Orientation:
minus strand minus strand

1 alternative location:
Chr21-,NW_003315970 108,062-115,589     

Whole chromosome sequencing:
cDNA sequence: X54199
genomic clones: pS590 pT604


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PUR2_HUMAN, P22102 (See protein sequence)
Recommended Name: Trifunctional purine biosynthetic protein adenosine-3  
Size: 1010 amino acids; 107767 Da
Selected PDB 3D structures from and Proteopedia for GART (see all 17):
1MEJ (3D)        1MEN (3D)        1MEO (3D)        1NJS (3D)        1RBM (3D)        1RBQ (3D)    
Secondary accessions: A8K945 A8KA32 D3DSF3 D3DSF4 O14659 Q52M77
Alternative splicing: 2 isoforms:  P22102-1   P22102-2   

Explore the universe of human proteins at neXtProt for GART: NX_P22102

Explore proteomics data for GART at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys28, Lys44, Lys107, Lys125, Lys148, Lys156, Lys162, Lys251, Lys285, Lys350,
                                 Lys467, Lys480, Lys485, Lys676, Lys697, Lys743, Lys779, Lys852, Lys910
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for GART (P22102) (see all 17)
     NIPRVLP  AHITGGG  PLFFLDY  GSGGREH 


    See GART Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_000810.1  NP_001129477.1  NP_001129478.1  NP_780294.1  

    ENSEMBL proteins: 
     ENSP00000371236   ENSP00000371253   ENSP00000371261   ENSP00000390003   ENSP00000354388  
     ENSP00000409771   ENSP00000413040   ENSP00000398631   ENSP00000413803   ENSP00000407783  
     ENSP00000443579  
    Reactome Protein details: P22102

    GART Human Recombinant Protein Products:

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    OriGene MassSpec for GART
    OriGene Custom Protein Services for GART
    GenScript Custom Purified and Recombinant Proteins Services for GART
    Novus Biologicals GART Protein
    Novus Biologicals GART Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for GART

    GART Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Abcam antibodies for GART
    Cloud-Clone Corp. Antibodies for GART
    ThermoFisher Antibodies for GART
    LSBio Antibodies in human, mouse, rat for GART

    GART Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for GART
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for GART
    Cloud-Clone Corp. CLIAs for GART


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 17):
     IPR020560 PRibGlycinamide_synth_C-dom
     IPR020561 PRibGlycinamid_synth_ATP-grasp
     IPR016185 PreATP-grasp_dom
     IPR020562 PRibGlycinamide_synth_N
     IPR011761 ATP-grasp

    Graphical View of Domain Structure for InterPro Entry P22102

    ProtoNet protein and cluster: P22102

    3 Blocks protein domains:
    IPB000115 Phosphoribosylglycinamide synthetase
    IPB000728 AIR synthase related protein
    IPB010918 AIR synthase related protein


    UniProtKB/Swiss-Prot: PUR2_HUMAN, P22102
    Similarity: In the N-terminal section; belongs to the GARS family
    Similarity: In the central section; belongs to the AIR synthase family
    Similarity: In the C-terminal section; belongs to the GART family
    Similarity: Contains 1 ATP-grasp domain


    GART for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PUR2_HUMAN, P22102
    Catalytic activity: ATP + 5-phospho-D-ribosylamine + glycine = ADP + phosphate +
    N(1)-(5-phospho-D-ribosyl)glycinamide
    Catalytic activity: ATP + 2-(formamido)-N(1)-(5-phospho-D-ribosyl)acetamidine = ADP + phosphate +
    5-amino-1-(5-phospho-D-ribosyl)imidazole
    Catalytic activity: 10-formyltetrahydrofolate + N(1)-(5-phospho-D-ribosyl)glycinamide = tetrahydrofolate +
    N(2)-formyl-N(1)-(5-phospho-D-ribosyl)glycinamide

         Genatlas biochemistry entry for GART:
    glycineamide formyltransferase,catalyzing the third step of the de novo purine biosynthesis,leading to
    formylglycinamide ribonucleotide (FGAR)

         Enzyme Numbers (IUBMB): EC 6.3.4.132 EC 6.3.3.12

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0004637phosphoribosylamine-glycine ligase activity IEA--
    GO:0004641phosphoribosylformylglycinamidine cyclo-ligase activity IEA--
    GO:0004644phosphoribosylglycinamide formyltransferase activity IEA--
    GO:0005524ATP binding IEA--
         
    GART for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for GART:
     Decreased Wnt reporter activit 

         1 MGI phenotypic allele for Gart (no phenotypes)

    GART for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GART
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GART

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GART
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GART

    miRNA
    Products:
        
    miRTarBase miRNAs that target GART:
    hsa-mir-18a-3p (MIRT040950), hsa-mir-615-3p (MIRT039806), hsa-mir-342-3p (MIRT043703), hsa-mir-484 (MIRT042138), hsa-mir-769-5p (MIRT039189), hsa-mir-320a (MIRT044765), hsa-mir-744-5p (MIRT037430)

    Block miRNA regulation of human, mouse, rat GART using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GART:
    hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidGART 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for GART
    Predesigned siRNA for gene silencing in human, mouse, rat GART

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for GART

    Clone
    Products:
         
    OriGene clones in human, mouse for GART (see all 21)
    OriGene ORF clones in mouse, rat for GART
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): GART (NM_000819)
    Sino Biological Human cDNA Clone for GART
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GART
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GART

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for GART
    Browse ESI BIO Cell Lines and PureStem Progenitors for GART 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GART


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    mitochondrion2
    endoplasmic reticulum1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--
    GO:0070062extracellular vesicular exosome IDA--

    GART for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for GART About    
    See pathways by source

    SuperPathContained pathways About
    1One carbon pool by folate
    One carbon pool by folate0.53
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics0.34
    One Carbon Metabolism0.53
    tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate0.00
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics0.35
    Antimetabolite Pathway - Folate Cycle, Pharmacodynamics0.00
    2Purine metabolism (REACTOME)
    Purine metabolism0.42
    Purine ribonucleoside monophosphate biosynthesis0.00
    Metabolism of nucleotides0.42
    5-aminoimidazole ribonucleotide biosynthesis0.00
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4purine nucleotide salvage
    purine nucleotides de novo biosynthesis0.78
    5Purine metabolism (KEGG)
    Purine metabolism0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for GART
        One Carbon Metabolism
    purine nucleotides de novo biosynthesis
    5-aminoimidazole ribonucleotide biosynthesis
    tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate


    1 Reactome Pathway for GART
        Purine ribonucleoside monophosphate biosynthesis

    3 PharmGKB Pathways for GART
        Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics

    3 Kegg Pathways  (Kegg details for GART):
        Purine metabolism
    One carbon pool by folate
    Metabolic pathways

    UniProtKB/Swiss-Prot: PUR2_HUMAN, P22102
    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


    GART for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GART
    Interactions:

        Search GeneGlobe Interaction Network for GART

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for GART (P221022, 3 ENSP000003712364) via UniProtKB, MINT, STRING, and/or I2D (see all 88)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    IKBKGQ9Y6K92, 3MINT-48228 I2D: score=2 
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    ARF6P623303, ENSP000002983164I2D: score=2 STRING: ENSP00000298316
    ATG10Q9H0Y03I2D: score=1 
    ATG101Q9BSB43I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003360brainstem development IEA--
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006189'de novo' IMP biosynthetic process IEA--
    GO:0006544glycine metabolic process IEA--
    GO:0009058biosynthetic process ----

    GART for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for GART (PUR2)

    Selected HMDB Compounds for GART (see all 16)    About this table
    CompoundSynonyms CAS #PubMed Ids
    2-(Formamido)-N1-(5-phospho-D-ribosyl)acetamidine1-(5'-Phosphoribosyl)-N-formylglycinamidine (see all 10)6157-85-3--
    5'-Phosphoribosyl-N-formylglycinamide5'-P-ribosyl-N-formylglycineamide (see all 8)----
    5'-phosphoribosyl-a-N-formylglycineamidine ----
    5,10-Methenyltetrahydrofolic acid5,10-Methenyltetrahydrofolate (see all 13)7444-29-3--
    5-Aminoimidazole ribonucleotide1-(5'-phosphoribosyl)-5-aminoimidazole (see all 8)25635-88-5--
    5-Phosphoribosylamine5-P-beta-D-ribosyl-amine (see all 10)----
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Dihydropteridine6,7-dihydropteridine ----
    Glycine2-Aminoacetate (see all 15)56-40-6--

    3 DrugBank Compounds for GART    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    PemetrexedLY231514 (see all 2)150399-23-8targetinhibitor15795320 11742712 14596699 12571811 11252887 11531245 12023793 10592235 11524555 11848474
    10-CF3C(OH)2-DDACTHF-- --target--17139284 17016423
    Glycinamide Ribonucleotide-- --target--17139284 17016423

    Selected Novoseek inferred chemical compound relationships for GART gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glycinamide ribonucleotide 97.9 58 11604543 (4), 15777723 (2), 7532005 (2), 2289000 (1) (see all 26)
    aminoimidazole ribonucleotide 88.8 10 17982461 (1), 9328467 (1), 9473452 (1), 8299947 (1)
    lometrexol 88.5 1 12234990 (1)
    phosphoribosylamine 88.2 4 7532005 (2), 8238909 (1)
    1843u89 86.2 2 12494465 (1)
    10-formyltetrahydrofolate 82.4 6 8806778 (2), 19007868 (1), 1848231 (1)
    purine 77.5 26 1887337 (2), 12234990 (1), 12501179 (1), 15777723 (1) (see all 12)
    aminopterin 76.1 2 12494465 (1)
    tomudex 73.6 2 12494465 (1)
    aicar 70.9 4 12501179 (1), 10888335 (1), 13129585 (1), 13129586 (1)



    GART for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for GART gene (4 alternative transcripts): 
    NM_000819.4  NM_001136005.1  NM_001136006.1  NM_175085.2  

    Unigene Cluster for GART:

    Phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
    Hs.473648  [show with all ESTs]
    Unigene Representative Sequence: BC068438
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000381815(uc002yrx.3) ENST00000381831 ENST00000381839 ENST00000424203(uc002yrz.3 uc010gmd.3 uc002yry.3)
    ENST00000482663 ENST00000487155 ENST00000460305 ENST00000467575 ENST00000361093(uc002ysa.2)
    ENST00000366093 ENST00000466882 ENST00000497313 ENST00000430874 ENST00000426819
    ENST00000476524 ENST00000488791 ENST00000438059 ENST00000441403
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat GART using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate GART:
    hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidGART 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for GART
    Predesigned siRNA for gene silencing in human, mouse, rat GART
    Clone
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    OriGene clones in human, mouse for GART (see all 21)
    OriGene ORF clones in mouse, rat for GART
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): GART (NM_000819)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GART
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GART
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for GART
    OriGene qSTAR qPCR primer pairs in human, mouse for GART
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GART
      QuantiTect SYBR Green Assays in human, mouse, rat GART
      QuantiFast Probe-based Assays in human, mouse, rat GART

    Additional mRNA sequence: 

    AB208785.1 AF008655.1 AK292560.1 AK292897.1 AK295980.1 BC038958.1 BC068438.1 BC093641.1 
    BC101565.1 BC107712.1 BX648124.1 D32051.1 M32082.1 X54199.1 

    Selected DOTS entries (see all 25):

    DT.100036758  DT.121141404  DT.100819299  DT.456326  DT.121141007  DT.121141360  DT.75102580  DT.99940405 
    DT.92446508  DT.121141111  DT.427150  DT.91915247  DT.121141457  DT.92049909  DT.121141349  DT.92446506 
    DT.121141517  DT.75116473  DT.100819302  DT.92012505  DT.95184922  DT.121141430  DT.95204743  DT.75100764 

    Selected AceView cDNA sequences (see all 426):

    BU683069 BF056279 AA401379 BM478955 BQ706966 CR593828 AL705931 BU752905 
    F07474 BX956173 BU154331 CA422930 BM126423 BQ951771 H98518 BU172939 
    BU160023 BE889817 AI984390 BX648124 AU125945 BX473323 AA024698 AA436452 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for GART (see all 18)    About this scheme

    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:                                                                                                                                      -     -           -   

    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:                                                                                                                              


    ECgene alternative splicing isoforms for GART

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    GART expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    GART Expression
    About this image


    GART expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Thymus (Hematopoietic System)
             Thymus
     
     Lung (Respiratory System)
             Trachea
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
    GART Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    GART Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.473648
        Custom PCR Arrays for GART
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    QuantiFast Probe-based Assays in human, mouse, rat GART
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GART

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GART gene from Selected species (see all 26)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Gart1 , 5 phosphoribosylglycinamide formyltransferase1, 5 83.2(n)1
    85.94(a)1
      16 (53.18 cM)5
    144501  NM_010256.21  NP_034386.21 
     916211865 
    chicken
    (Gallus gallus)
    Aves GART1 phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide more 73.4(n)
    75.1(a)
      395315  NM_001001469.1  NP_001001469.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    73(a)
    54(a)
    1 ↔ many
    1 ↔ many
    3(143009083-143062754)
    3(143063002-143095091)
    African clawed frog
    (Xenopus laevis)
    Amphibia BJ619402.12   -- 75.32(n)    BJ619402.1 
    zebrafish
    (Danio rerio)
    Actinopterygii gart2 phosphoribosylglycinamide formyltransferase 72.76(n)   58141  AF257743.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta ade31 , 3 'de novo' IMP biosynthesis
    phosphoribosylamine-glycine more3
    adenosine 31
    47(a)3
    52.49(n)1
    48.46(a)1
      27D43
    339861  NM_078773.21  NP_523497.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F38B6.41 , 3 GARS/AIRS/GART3
    F38B6.41
    43(a)3
    52.4(n)1
    45.39(a)1
      X(6710141-6715049)3
    1809351  NM_076721.41  NP_509122.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADE5,7(YGL234W)4
    ADE5,71
    Bifunctional enzyme of the 'de novo' purine nucleotide more4
    ADE5,71
    51.96(n)1
    46.32(a)1
      7(56482-58890)4
    8526171, 4  NP_011280.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G098301 AT1G09830 52.82(n)
    46.4(a)
      837515  NM_100857.3  NP_172454.1 
    rice
    (Oryza sativa)
    Liliopsida Os.86352 Oryza sativa (japonica cultivar-group) cDNA clone0 more 73.09(n)    AK067808.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for GART gene
    4 SIMAP similar genes for GART using alignment to 10 protein entries:     PUR2_HUMAN (see all proteins):
    PFKM    OK/SW-cl.18    t1560    DKFZp666K083

    GART for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for GART (see all 941)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1831869571,2
    --25422518(+) GTCTCA/GATCTC 3 -- ds50010--------
    rs72780811,2
    C,F--25422679(+) tccacC/Ttcctg 3 -- ds50015Minor allele frequency- T:0.33NA CSA 9
    rs1888884231,2
    --25422692(+) TTCAAC/GCGATT 3 -- ds50010--------
    rs1910145571,2
    --25422722(+) AGTAGC/GTGGGA 3 -- ds50010--------
    rs1827282061,2
    --25422947(+) AATACC/TAAAAA 3 -- ds50010--------
    rs1128440811,2
    --25423021(+) GATATG/ACTGCA 3 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1481550711,2
    C--25423060(+) TATTTA/TTTAAA 3 -- ut310--------
    rs96366101,2
    C,H--25423309(+) TTTTAC/TTCTTT 6 I V mis15Minor allele frequency- T:0.00NS EA NA 408
    rs28981991,2
    H--25423358(+) ACAGCT/ATCTTG 6 /E /D mis14Minor allele frequency- A:0.00NS EA 406
    rs2021313781,2
    --25423400(+) TGGAAA/CAGTAA 3 -- int10--------

    HapMap Linkage Disequilibrium report for GART (34876238 - 34915797 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for GART:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509795CNV Insertion20534489
    nsv913725CNV Loss21882294
    nsv913724CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing GART
    DNA2.0 Custom Variant and Variant Library Synthesis for GART

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 138440    OMIM disorders: --

    Selected diseases for GART (see all 22):    
    About MalaCards
    white piedra    dermatophytosis    benign mesothelioma    monilethrix
    patent ductus arteriosus    spina bifida    down syndrome    malignant pleural mesothelioma
    lateral sclerosis    amyotrophic lateral sclerosis    cleft lip    labyrinthitis
    pneumonia    inflammatory bowel disease    lymphoblastic leukemia    alzheimer's disease
    tuberculosis    colorectal cancer    leukemia    malaria

    2 diseases from the University of Copenhagen DISEASES database for GART:
    Benign mesothelioma     Malignant pleural mesothelioma

    GART for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for GART gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    down syndrome 35.7 2 9328467 (1), 19007868 (1)
    amyotrophic lateral sclerosis 21.3 1 8358240 (1)
    leukemia 3.56 2 2040032 (1)
    tumors 0 4 12234990 (2), 7506026 (1)
    carcinoma 0 3 14517211 (2), 12234990 (1)
    cancer 0 1 17198385 (1)

    Genetic Association Database (GAD): GART
    Human Genome Epidemiology (HuGE) Navigator: GART (6 documents)

    Export disorders for GART gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for GART gene, integrated from 10 sources (see all 110):
    (articles sorted by number of sources associating them with GART)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of three human multifunctional de novo purine biosynthetic genes by functional complementation of yeast mutations. (PubMed id 2183217)1, 2, 9 Schild D.... Barr P.J. (Proc. Natl. Acad. Sci. U.S.A. 1990)
    2. Cloning and in vivo expression of the human GART gene using yeast artificial chromosomes. (PubMed id 2050105)1, 3, 9 Gnirke A....Olson M.V. (EMBO J. 1991)
    3. Intronic polyadenylation in the human glycinamide ribonucleotide formyltransferase gene. (PubMed id 9224613)1, 2, 9 Kan J.L.C. and Moran R.G. (Nucleic Acids Res. 1997)
    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. (PubMed id 2147474)1, 2, 9 Aimi J.... Dixon J.E. (Nucleic Acids Res. 1990)
    5. Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (PLoS ONE 2010)
    6. Germline polymorphisms in the one-carbon metabolism pathway and DNA methylation in colorectal cancer. (PubMed id 19936946)1, 4 Hazra A....Ogino S. (amp 2010)
    7. An association study of 45 folate-related genes in spina bifida: Involvement of cubilin (CUBN) and tRNA aspartic acid methyltransferase 1 (TRDMT1). (PubMed id 19161160)1, 4 Franke B....Blom H.J. (Birth Defects Res. Part A Clin. Mol. Teratol. 2009)
    8. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. (PubMed id 19336370)1, 4 Dagle J.M....Murray J.C. (Pediatrics 2009)
    9. Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts. (PubMed id 18978678)1, 4 Vieira A.R....Marazita M.L. (Genet. Med. 2008)
    10. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (Nat. Biotechnol. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 2618 HGNC: 4163 AceView: GART Ensembl:ENSG00000159131 euGenes: HUgn2618
    ECgene: GART Kegg: 2618 H-InvDB: GART

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for GART Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for GART gene:
    Search GeneIP for patents involving GART

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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