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    GART phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase [ Homo sapiens (human) ]

    Gene ID: 2618, updated on 17-Jun-2024

    Summary

    Official Symbol
    GARTprovided by HGNC
    Official Full Name
    phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetaseprovided by HGNC
    Primary source
    HGNC:HGNC:4163
    See related
    Ensembl:ENSG00000159131 MIM:138440; AllianceGenome:HGNC:4163
    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
    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]
    Expression
    Ubiquitous expression in testis (RPKM 13.5), lymph node (RPKM 11.6) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See GART in Genome Data Viewer
    Location:
    21q22.11
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33503931..33542893, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (31885765..31924746, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34876238..34915198, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene RPS5 pseudogene 3 Neighboring gene DnaJ heat shock protein family (Hsp40) member C28 Neighboring gene basic transcription factor 3 pseudogene 6 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:34903402-34904601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13260 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:34914753-34915484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13261 Neighboring gene SON DNA and RNA binding protein Neighboring gene microRNA 6501 Neighboring gene DNA replication fork stabilization factor DONSON Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:34960679-34961178

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    EBI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of GART PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif interacts with GART; interaction predicted to be relevant to purine pyrimidine biosynthesis PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC47764

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in 'de novo' AMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in 'de novo' IMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in 'de novo' IMP biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in 'de novo' XMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in GMP biosynthetic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in adenine biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in brainstem development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebellum development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cerebral cortex development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glycine metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in purine nucleotide biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in purine ribonucleoside monophosphate biosynthetic process TAS
    Traceable Author Statement
    more info
     
    involved_in response to inorganic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to organic substance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in tetrahydrofolate biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 

    General protein information

    Preferred Names
    trifunctional purine biosynthetic protein adenosine-3
    Names
    GAR transformylase
    GARS-AIRS-GART
    glycinamide ribonucleotide formyltransferase
    glycinamide ribonucleotide synthetase-aminoimidazole ribonucleotide synthetase-glycinamide ribonucleotide transformylase
    NP_000810.1
    NP_001129477.1
    NP_001129478.1
    NP_780294.1
    XP_005260998.1
    XP_006724052.1
    XP_006724053.1
    XP_011527828.1
    XP_047296699.1
    XP_054180407.1
    XP_054180408.1
    XP_054180409.1
    XP_054180410.1
    XP_054180411.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_029160.2 RefSeqGene

      Range
      5776..43960
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000819.5NP_000810.1  trifunctional purine biosynthetic protein adenosine-3 isoform 1

      See identical proteins and their annotated locations for NP_000810.1

      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
      A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
      UniProtKB/TrEMBL
      Q3B7A7
      Related
      ENSP00000371236.4, ENST00000381815.9
      Conserved Domains (7) summary
      cd02196
      Location:469767
      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. ...
      cd08645
      Location:809991
      FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
      PRK05385
      Location:435766
      PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
      TIGR00877
      Location:4426
      purD; phosphoribosylamine--glycine ligase
      pfam01071
      Location:105298
      GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
      pfam02843
      Location:334424
      GARS_C; Phosphoribosylglycinamide synthetase, C domain
      pfam02844
      Location:4104
      GARS_N; Phosphoribosylglycinamide synthetase, N domain
    2. NM_001136005.1NP_001129477.1  trifunctional purine biosynthetic protein adenosine-3 isoform 1

      See identical proteins and their annotated locations for NP_001129477.1

      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
      A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
      UniProtKB/TrEMBL
      Q3B7A7
      Related
      ENSP00000371253.3, ENST00000381831.7
      Conserved Domains (7) summary
      cd02196
      Location:469767
      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. ...
      cd08645
      Location:809991
      FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
      PRK05385
      Location:435766
      PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
      TIGR00877
      Location:4426
      purD; phosphoribosylamine--glycine ligase
      pfam01071
      Location:105298
      GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
      pfam02843
      Location:334424
      GARS_C; Phosphoribosylglycinamide synthetase, C domain
      pfam02844
      Location:4104
      GARS_N; Phosphoribosylglycinamide synthetase, N domain
    3. NM_001136006.1NP_001129478.1  trifunctional purine biosynthetic protein adenosine-3 isoform 1

      See identical proteins and their annotated locations for NP_001129478.1

      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
      A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
      UniProtKB/TrEMBL
      Q3B7A7
      Related
      ENSP00000371261.3, ENST00000381839.7
      Conserved Domains (7) summary
      cd02196
      Location:469767
      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. ...
      cd08645
      Location:809991
      FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
      PRK05385
      Location:435766
      PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
      TIGR00877
      Location:4426
      purD; phosphoribosylamine--glycine ligase
      pfam01071
      Location:105298
      GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
      pfam02843
      Location:334424
      GARS_C; Phosphoribosylglycinamide synthetase, C domain
      pfam02844
      Location:4104
      GARS_N; Phosphoribosylglycinamide synthetase, N domain
    4. NM_175085.3NP_780294.1  trifunctional purine biosynthetic protein adenosine-3 isoform 2

      See identical proteins and their annotated locations for NP_780294.1

      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/TrEMBL
      Q15374
      Related
      ENSP00000354388.5, ENST00000361093.9
      Conserved Domains (4) summary
      TIGR00877
      Location:4426
      purD; phosphoribosylamine--glycine ligase
      pfam01071
      Location:105298
      GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
      pfam02843
      Location:334424
      GARS_C; Phosphoribosylglycinamide synthetase, C domain
      pfam02844
      Location:4104
      GARS_N; Phosphoribosylglycinamide synthetase, N domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

      Range
      33503931..33542893 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047440743.1XP_047296699.1  trifunctional purine biosynthetic protein adenosine-3 isoform X1

      UniProtKB/Swiss-Prot
      A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
      UniProtKB/TrEMBL
      Q3B7A7
    2. XM_006723990.3XP_006724053.1  trifunctional purine biosynthetic protein adenosine-3 isoform X1

      See identical proteins and their annotated locations for XP_006724053.1

      UniProtKB/Swiss-Prot
      A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
      UniProtKB/TrEMBL
      Q3B7A7
      Conserved Domains (7) summary
      cd02196
      Location:469767
      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. ...
      cd08645
      Location:809991
      FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
      PRK05385
      Location:435766
      PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
      TIGR00877
      Location:4426
      purD; phosphoribosylamine--glycine ligase
      pfam01071
      Location:105298
      GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
      pfam02843
      Location:334424
      GARS_C; Phosphoribosylglycinamide synthetase, C domain
      pfam02844
      Location:4104
      GARS_N; Phosphoribosylglycinamide synthetase, N domain
    3. XM_011529526.3XP_011527828.1  trifunctional purine biosynthetic protein adenosine-3 isoform X1

      See identical proteins and their annotated locations for XP_011527828.1

      UniProtKB/Swiss-Prot
      A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
      UniProtKB/TrEMBL
      Q3B7A7
      Conserved Domains (7) summary
      cd02196
      Location:469767
      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. ...
      cd08645
      Location:809991
      FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
      PRK05385
      Location:435766
      PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
      TIGR00877
      Location:4426
      purD; phosphoribosylamine--glycine ligase
      pfam01071
      Location:105298
      GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
      pfam02843
      Location:334424
      GARS_C; Phosphoribosylglycinamide synthetase, C domain
      pfam02844
      Location:4104
      GARS_N; Phosphoribosylglycinamide synthetase, N domain
    4. XM_006723989.3XP_006724052.1  trifunctional purine biosynthetic protein adenosine-3 isoform X1

      See identical proteins and their annotated locations for XP_006724052.1

      UniProtKB/Swiss-Prot
      A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
      UniProtKB/TrEMBL
      Q3B7A7
      Conserved Domains (7) summary
      cd02196
      Location:469767
      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. ...
      cd08645
      Location:809991
      FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
      PRK05385
      Location:435766
      PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
      TIGR00877
      Location:4426
      purD; phosphoribosylamine--glycine ligase
      pfam01071
      Location:105298
      GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
      pfam02843
      Location:334424
      GARS_C; Phosphoribosylglycinamide synthetase, C domain
      pfam02844
      Location:4104
      GARS_N; Phosphoribosylglycinamide synthetase, N domain
    5. XM_005260941.3XP_005260998.1  trifunctional purine biosynthetic protein adenosine-3 isoform X1

      See identical proteins and their annotated locations for XP_005260998.1

      UniProtKB/Swiss-Prot
      A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
      UniProtKB/TrEMBL
      Q3B7A7
      Conserved Domains (7) summary
      cd02196
      Location:469767
      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. ...
      cd08645
      Location:809991
      FMT_core_GART; Phosphoribosylglycinamide formyltransferase (GAR transformylase, GART)
      PRK05385
      Location:435766
      PRK05385; phosphoribosylaminoimidazole synthetase; Provisional
      TIGR00877
      Location:4426
      purD; phosphoribosylamine--glycine ligase
      pfam01071
      Location:105298
      GARS_A; Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
      pfam02843
      Location:334424
      GARS_C; Phosphoribosylglycinamide synthetase, C domain
      pfam02844
      Location:4104
      GARS_N; Phosphoribosylglycinamide synthetase, N domain

    Reference GRCh38.p14 ALT_REF_LOCI_1

    Genomic

    1. NW_003315970.2 Reference GRCh38.p14 ALT_REF_LOCI_1

      Range
      108061..115588 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060945.1 Alternate T2T-CHM13v2.0

      Range
      31885765..31924746 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054324432.1XP_054180407.1  trifunctional purine biosynthetic protein adenosine-3 isoform X1

      UniProtKB/Swiss-Prot
      A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
      UniProtKB/TrEMBL
      Q3B7A7
    2. XM_054324433.1XP_054180408.1  trifunctional purine biosynthetic protein adenosine-3 isoform X1

      UniProtKB/Swiss-Prot
      A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
      UniProtKB/TrEMBL
      Q3B7A7
    3. XM_054324434.1XP_054180409.1  trifunctional purine biosynthetic protein adenosine-3 isoform X1

      UniProtKB/Swiss-Prot
      A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
      UniProtKB/TrEMBL
      Q3B7A7
    4. XM_054324436.1XP_054180411.1  trifunctional purine biosynthetic protein adenosine-3 isoform X1

      UniProtKB/Swiss-Prot
      A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
      UniProtKB/TrEMBL
      Q3B7A7
    5. XM_054324435.1XP_054180410.1  trifunctional purine biosynthetic protein adenosine-3 isoform X1

      UniProtKB/Swiss-Prot
      A8K945, A8KA32, D3DSF3, D3DSF4, O14659, P22102, Q52M77
      UniProtKB/TrEMBL
      Q3B7A7