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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

GART Gene

protein-coding   GIFtS: 68
GCID: GC21M034870

Phosphoribosylglycinamide Formyltransferase, Phosphoribosylglycinamide...


(Previous symbols: PRGS, PGFT)
Microbiology & Infectious Diseases Congress
  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are One carbon pool by folate and Metabolic pathways. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NT_011512.11  NC_018932.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for GART

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PUR2_HUMAN, P22102 (See protein sequence)
Recommended Name: Trifunctional purine biosynthetic protein adenosine-3  
Size: 1010 amino acids; 107767 Da
6/14 PDB 3D structures from and Proteopedia for GART (see all 14):
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P22102

  • 4/17 DME Specific Peptides for GART (P22102) (see all 17)
     NIPRVLP  AHITGGG  PLFFLDY  GSGGREH 

    GART Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    GART Protein Expression
    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
    Human Recombinant Protein Products for GART: 
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    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 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ----
    GO:0005829cytosol TAS--

    GART for ontologies           About GeneDecksing



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    Cloud-Clone Corp. CLIAs for GART


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/17 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/8 molecular function terms (GO ID links to tree view) (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 - Custom generated mouse model solutions for GART 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GART
    1 QIAGEN miScript miRNA Assays for microRNA that regulate GART:
    hsa-miR-3613-3p
    SwitchGear 3'UTR luciferase reporter plasmidGART 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    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)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GART
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                         Customized lentivirus expression plasmids for stable overexpression of GART 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GART


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for GART About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1One Carbon Metabolism
    One carbon pool by folate0.53
    One Carbon Metabolism0.53
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Antimetabolite Pathway - Folate Cycle, Pharmacodynamics
    Antimetabolite Pathway - Folate Cycle, Pharmacodynamics0.87
    Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics0.36
    Methotrexate Pathway (Cancer Cell), Pharmacodynamics0.87
    4Purine metabolism
    Purine metabolism0.42
    Purine ribonucleoside monophosphate biosynthesis0.33
    Metabolism of nucleotides0.42
    5adenosine ribonucleotides de novo biosynthesis
    superpathway of purine nucleotides de novo biosynthesis I0.49

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

    4        Reactome Pathways for GART
        Metabolism of nucleotides
    Metabolism
    Purine ribonucleoside monophosphate biosynthesis
    Purine metabolism

    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for GART

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

    5/57 Interacting proteins for GART (P221022, 3 ENSP000003712364) via UniProtKB, MINT, STRING, and/or I2D (see all 57)

    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 
    ATG2AQ2TAZ03I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006144purine nucleobase metabolic process TAS--
    GO:0006189'de novo' IMP biosynthetic process IEA--
    GO:0009058biosynthetic process ----
    GO:0009113purine nucleobase biosynthetic process IEA--
    GO:0009168purine ribonucleoside monophosphate biosynthetic process TAS--

    GART for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    GART for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for GART (PUR2)

    10/16 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

    10/17 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)

    Search CenterWatch for drugs/clinical trials and news about GART / PUR2

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/19 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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    1 QIAGEN miScript miRNA Assays for microRNA that regulate GART:
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    SwitchGear 3'UTR luciferase reporter plasmidGART 3' UTR sequence
    Inhib. RNA
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    OriGene ORF clones in mouse, rat for GART
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for GART
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GART
    Sirion Biotech Customized lentivirus for stable overexpression of GART 
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      QIAGEN 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 

    24/25 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 

    24/426 AceView cDNA sequences (see all 426):

    R46479 H98518 BU902917 AI470669 F07474 BM852799 BM679691 AI685461 
    BU752905 M32082 BU684179 AA381901 BM973301 BE301651 BU154331 BQ924007 
    BX648124 AU125945 AA386326 AW251087 BU188141 CA422930 BI333329 AU103716 

    GeneLoc Exon Structure

    5/18 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    GART expression in normal human tissues (normalized intensities)      GART embryonic expression: see
    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 
     5/17 selected tissues (see all 17) fully expand
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             brain/midbrain   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Limb (Muscoskeletal System)    fully expand to see all 2 entries
             limb/hindlimb   
     
     Peripheral Nervous System (Nervous System)
             spinal/ganglion/dorsal root ganglion   

    See GART Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for GART

    SOURCE GeneReport for Unigene cluster: Hs.473648
        SABiosciences Custom PCR Arrays for GART
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    (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

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for GART gene from 10/25 species (see all 25)    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 GART6
    --
    Uncharacterized protein
    73(a)
    53(a)
    1 ↔ 1
    possible ortholog
    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
    52.4(n)1
    48.46(a)1
      27D43
    339861  NM_078773.21  NP_523497.21 
    worm
    (Caenorhabditis elegans)
    Secernentea F38B6.41 , 3 GARS/AIRS/GART3
    Protein F38B6.41
    43(a)3
    52.24(n)1
    45.36(a)1
      X(6710141-6715049)3
    1809351  NM_076721.31  NP_509122.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ADE5,7(YGL234W)4
    ADE5,71
    Bifunctional enzyme of the 'de novo' purine nucleotide more4
    Ade5,7p1
    52.02(n)1
    46.38(a)1
      7(56482-58890)4
    8526171, 4  NP_011280.11, 4 
    soybean
    (Glycine max)
    eudicotyledons Gma.59592 Transcribed sequence with moderate similarity to protein more 73.71(n)    BI424103.1 
    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
    Paralogs for GART gene
    4 SIMAP similar genes for GART using alignment to 12 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/941 SNPs in GART are shown (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

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 138440    OMIM disorders: --

    18 diseases for GART:    About MalaCards
    white piedra    dermatophytosis    benign mesothelioma    monilethrix
    patent ductus arteriosus    malignant pleural mesothelioma    spina bifida    down syndrome
    cleft lip    lateral sclerosis    amyotrophic lateral sclerosis    pneumonia
    lymphoblastic leukemia    tuberculosis    alzheimer's disease    colorectal cancer
    leukemia    breast cancer

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

    GART for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    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)
    About This Section

    PubMed articles for GART gene, integrated from 9 sources (see all 108):
    (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. (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. (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. (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. (1990)
    5. Maternal genes and facial clefts in offspring: a comp rehensive search for genetic associations in two population-based cleft studies from Scandinavia. (PubMed id 20634891)1, 4 Jugessur A....Murray J.C. (2010)
    6. Germline polymorphisms in the one-carbon metabolism p athway and DNA methylation in colorectal cancer. (PubMed id 19936946)1, 4 Hazra A....Ogino S. (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. (2009)
    8. Determination of genetic predisposition to patent ductus arteriosus in preterm infants. (PubMed id 19336370)1, 4 Dagle J.M....Murray J.C. (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. (2008)
    10. Immunoaffinity profiling of tyrosine phosphorylation in cancer cells. (PubMed id 15592455)1, 2 Rush J.... Comb M.J. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 2618 HGNC: 4163 AceView: GART Ensembl:ENSG00000159131 euGenes: HUgn2618
    ECgene: GART Kegg: 2618 H-InvDB: GART

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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