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

Gene ID: 2618, updated on 7-Apr-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
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Genomic context

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
  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
  2. XM_054324433.1XP_054180408.1  trifunctional purine biosynthetic protein adenosine-3 isoform X1

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

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

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

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