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    GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase [ Homo sapiens ]

    Gene ID: 2618, updated on 19-May-2012
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    Summary

    Official Symbol
    GARTprovided by HGNC
    Official Full Name
    phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetaseprovided by HGNC
    Primary source
    HGNC:4163
    See related
    Ensembl:ENSG00000159131; HPRD:00716; MIM:138440; Vega:OTTHUMG00000065628
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AIRS; GARS; PAIS; PGFT; PRGS; GARTF; MGC47764
    Summary
    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]
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    Genomic context

    Location :
    21q22.11
    Sequence :
    Chromosome: 21; NC_000021.8 (34876238..34915198, complement)
    See GART in Epigenomics, MapViewer

    Chromosome 21 - NC_000021.8Genomic Context describing neighboring genes Neighboring gene ribosomal protein S5 pseudogene 3 Neighboring gene DnaJ (Hsp40) homolog, subfamily C, member 28 Neighboring gene basic transcription factor 3 pseudogene 6 Neighboring gene SON DNA binding protein Neighboring gene uncharacterized LOC100506284 Neighboring gene downstream neighbor of SON

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. Lee KA, et al. J Biol Chem, 2011 Dec 2. PMID 21987572.
    2. Global identification of modular cullin-RING ligase substrates. Emanuele MJ, et al. Cell, 2011 Oct 14. PMID 21963094.
    3. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    4. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. Wagner SA, et al. Mol Cell Proteomics, 2011 Oct. PMID 21890473.
    5. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.

    See all (35) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. GART has an approximate seesaw geometry where terminal enzyme units display high mobility owing to flexible linker segments.
      Title: Structural studies of tri-functional human GART.
    2. Performed phylogenetic analysis and report that murine, bovine and chimpanzee sequences are the nearest neighbors of human GARS-AIRS-GART and that endo-duplication of the AIRS protein is restricted to insect orthologs.
      Title: Phylogenetic analysis and in silico characterization of the GARS-AIRS-GART gene which codes for a tri-functional enzyme protein involved in de novo purine biosynthesis.
    3. Observational study of gene-disease association. (HuGE Navigator)
      Title: Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.
    4. CP2/LBP-1c/LSF as a factor that likely mediates enhanced transcription of GARS-AIRS-GART in Down syndrome-related Alzheimer disease.
      Title: Potential interaction between the GARS-AIRS-GART Gene and CP2/LBP-1c/LSF transcription factor in Down syndrome-related Alzheimer disease.
    5. The pH-dependent activity in human GART is due to its inability to bind the substrate, beta-glycinamide ribonucleotide, at low pH on the basis of structural studies at high and low pH.
      Title: Crystal structures of human GAR Tfase at low and high pH and with substrate beta-GAR.
    6. The Expression of baseline GARTF tended to be higher in responders but this association was not significant.
      Title: A phase II trial of pemetrexed in advanced breast cancer: clinical response and association with molecular target expression.
    7. Substrate/cosubstrate flexibility and cosubstrate preactivation are critical for the catalytic mechanism of human GART
      Title: The apo and ternary complex structures of a chemotherapeutic target: human glycinamide ribonucleotide transformylase.
    8. Site-directed mutagenesis was employed to probe the role of the strictly conserved active site residues, N106, H108, and D144, and the semiconserved K170 in substrate binding and catalysis by glycinamide ribonucleotide transformylase (GART) .
      Title: Human glycinamide ribonucleotide transformylase: active site mutants as mechanistic probes.
    Submit: New GeneRIF Correction
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P22102 P22102 GART    HPRD  PubMed  
    BioGRID:108888 BioGRID:106877 ARF6    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:108888 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    • Homologs of the GART gene: The GART gene is conserved in chimpanzee, , dog, cow, mouse, rat, chicken, zebrafish, fruit fly, mosquito, C.elegans, S.cerevisiae, K.lactis, , S.pombe, , and N.crassa.
    • Map Viewer (Mouse, Rat)

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleotide binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    phosphoribosylamine-glycine ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    phosphoribosylformylglycinamidine cyclo-ligase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    phosphoribosylglycinamide formyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    'de novo' IMP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    nucleobase-containing small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    organ development IEA
    Inferred from Electronic Annotation
    more info
    		  
    purine base biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    purine base metabolic process TAS
    Traceable Author Statement
    more info
    		  
    purine nucleotide biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    purine ribonucleoside monophosphate biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    response to inorganic substance IEA
    Inferred from Electronic Annotation
    more info
    		  
    response to organic substance IEA
    Inferred from Electronic Annotation
    more info
    		  
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    cytosol TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    trifunctional purine biosynthetic protein adenosine-3
    Names
    trifunctional purine biosynthetic protein adenosine-3
    NP_000810.1
    NP_001129477.1
    NP_001129478.1
    NP_780294.1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_029160.1 RefSeqGene

      Range
      5001..43961
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000819.4 → NP_000810.1  trifunctional purine biosynthetic protein adenosine-3 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer protein (isoform 1). Variants 1, 3, and 4 encode the same protein.
      Source sequence(s)
      AK292897, BQ010035, DB236855, X54199
      Consensus CDS
      CCDS13627.1
      UniProtKB/Swiss-Prot
      P22102
      Related
      ENSP00000371236, OTTHUMP00000068281, ENST00000381815, OTTHUMT00000140628
      Conserved Domains (8) summary
      cd02196
      Location:469 – 767
      Blast Score: 1216
      PurM; PurM (Aminoimidazole Ribonucleotide [AIR] synthetase), one of eleven enzymes required for purine biosynthesis, catalyzes the conversion of formylglycinamide ribonucleotide (FGAM) and ATP to AIR, ADP, and Pi, the fifth step in de novo purine biosynthesis. ...
      PRK05385
      Location:435 – 766
      Blast Score: 1279
      PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
      PRK05647
      Location:808 – 1002
      Blast Score: 745
      purN; phosphoribosylglycinamide formyltransferase; Reviewed
      cd08645
      Location:809 – 991
      Blast Score: 775
      FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
      TIGR00877
      Location:4 – 426
      Blast Score: 1724
      purD; phosphoribosylamine--glycine ligase
      pfam02843
      Location:334 – 426
      Blast Score: 317
      GARS_C; Phosphoribosylglycinamide synthetase, C domain
      pfam02844
      Location:4 – 104
      Blast Score: 406
      GARS_N; Phosphoribosylglycinamide synthetase, N domain
      cl03087
      Location:105 – 298
      Blast Score: 924
      ATP-grasp_4; ATP-grasp domain

    2. NM_001136005.1 → NP_001129477.1  trifunctional purine biosynthetic protein adenosine-3 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains a different segment for its 5' UTR, compared to variant 1. Variants 1, 3, and 4 encode the same protein.
      Source sequence(s)
      AK292560, AK292897, BM172468, BQ010035
      Consensus CDS
      CCDS13627.1
      UniProtKB/Swiss-Prot
      P22102
      Related
      ENSP00000371253, OTTHUMP00000068280, ENST00000381831, OTTHUMT00000140626
      Conserved Domains (8) summary
      cd02196
      Location:469 – 767
      Blast Score: 1216
      PurM; PurM (Aminoimidazole Ribonucleotide [AIR] synthetase), one of eleven enzymes required for purine biosynthesis, catalyzes the conversion of formylglycinamide ribonucleotide (FGAM) and ATP to AIR, ADP, and Pi, the fifth step in de novo purine biosynthesis. ...
      PRK05385
      Location:435 – 766
      Blast Score: 1279
      PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
      PRK05647
      Location:808 – 1002
      Blast Score: 745
      purN; phosphoribosylglycinamide formyltransferase; Reviewed
      cd08645
      Location:809 – 991
      Blast Score: 775
      FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
      TIGR00877
      Location:4 – 426
      Blast Score: 1724
      purD; phosphoribosylamine--glycine ligase
      pfam02843
      Location:334 – 426
      Blast Score: 317
      GARS_C; Phosphoribosylglycinamide synthetase, C domain
      pfam02844
      Location:4 – 104
      Blast Score: 406
      GARS_N; Phosphoribosylglycinamide synthetase, N domain
      cl03087
      Location:105 – 298
      Blast Score: 924
      ATP-grasp_4; ATP-grasp domain

    3. NM_001136006.1 → NP_001129478.1  trifunctional purine biosynthetic protein adenosine-3 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) contains a different segment for its 5' UTR, compared to variant 1. Variants 1, 3, and 4 encode the same protein.
      Source sequence(s)
      AB208785, AK292897, BQ010035, DB062974
      Consensus CDS
      CCDS13627.1
      UniProtKB/Swiss-Prot
      P22102
      UniProtKB/TrEMBL
      Q59HH3
      Related
      ENSP00000371261, OTTHUMP00000068337, ENST00000381839, OTTHUMT00000140631
      Conserved Domains (8) summary
      cd02196
      Location:469 – 767
      Blast Score: 1216
      PurM; PurM (Aminoimidazole Ribonucleotide [AIR] synthetase), one of eleven enzymes required for purine biosynthesis, catalyzes the conversion of formylglycinamide ribonucleotide (FGAM) and ATP to AIR, ADP, and Pi, the fifth step in de novo purine biosynthesis. ...
      PRK05385
      Location:435 – 766
      Blast Score: 1279
      PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
      PRK05647
      Location:808 – 1002
      Blast Score: 745
      purN; phosphoribosylglycinamide formyltransferase; Reviewed
      cd08645
      Location:809 – 991
      Blast Score: 775
      FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
      TIGR00877
      Location:4 – 426
      Blast Score: 1724
      purD; phosphoribosylamine--glycine ligase
      pfam02843
      Location:334 – 426
      Blast Score: 317
      GARS_C; Phosphoribosylglycinamide synthetase, C domain
      pfam02844
      Location:4 – 104
      Blast Score: 406
      GARS_N; Phosphoribosylglycinamide synthetase, N domain
      cl03087
      Location:105 – 298
      Blast Score: 924
      ATP-grasp_4; ATP-grasp domain

    4. NM_175085.2 → NP_780294.1  trifunctional purine biosynthetic protein adenosine-3 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) is missing 3' end exons, compared to variant 1, which results in a shorter protein (isoform 2) compared to isoform 1.
      Source sequence(s)
      BC038958, BQ477393, DB236855
      Consensus CDS
      CCDS13628.1
      UniProtKB/Swiss-Prot
      P22102
      Related
      ENSP00000354388, OTTHUMP00000068282, ENST00000361093, OTTHUMT00000140629
      Conserved Domains (4) summary
      TIGR00877
      Location:4 – 426
      Blast Score: 1703
      purD; phosphoribosylamine--glycine ligase
      pfam02843
      Location:334 – 426
      Blast Score: 314
      GARS_C; Phosphoribosylglycinamide synthetase, C domain
      pfam02844
      Location:4 – 104
      Blast Score: 401
      GARS_N; Phosphoribosylglycinamide synthetase, N domain
      cl03087
      Location:105 – 298
      Blast Score: 912
      ATP-grasp_4; ATP-grasp domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000021.8 Reference GRCh37.p5 Primary Assembly

      Range
      34876238..34915198, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 PATCHES

    Genomic

    1. NW_003315970.1 Reference GRCh37.p5 PATCHES

      Range
      108062..115589, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000153.1 Alternate HuRef

      Range
      20354547..20393666, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF008653.1 AAB70812.1
    genomic AF008654.1 AAB70813.1
    genomic AP000302.1 (25876..34474) None
    genomic AP000303.2 None
    genomic CH471079.2 EAX09825.1
      EAX09826.1
      EAX09827.1
      EAX09828.1
      EAX09829.1
    mRNA AB208785.1 BAD92022.1
    mRNA AF008655.1 AAB71834.1
    mRNA AK292560.1 BAF85249.1
    mRNA AK292897.1 BAF85586.1
    mRNA AK295980.1 BAG58755.1
    mRNA BC038958.1 AAH38958.1
    mRNA BC068438.1 None
    mRNA BC093641.1 AAH93641.1
    mRNA BC101565.1 AAI01566.1
    mRNA BC107712.1 AAI07713.1
    mRNA BM172468.1 None
    mRNA BQ010035.1 None
    mRNA BQ477393.1 None
    mRNA BX648124.1 None
    mRNA D32051.1 BAA06809.1
    mRNA DB062974.1 None
    mRNA DB236855.1 None
    mRNA M32082.1 AAA60077.1
    mRNA X54199.1 CAA38119.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    O14660 GenPept UniProtKB/TrEMBL:O14660
    P22102.1 GenPept UniProtKB/Swiss-Prot:P22102
    Q15374 GenPept UniProtKB/TrEMBL:Q15374
    Q3B7A7 GenPept UniProtKB/TrEMBL:Q3B7A7
    Q59HH3 GenPept UniProtKB/TrEMBL:Q59HH3
    Q71VH3 GenPept UniProtKB/TrEMBL:Q71VH3
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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