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

Gene ID: 2618, updated on 12-Oct-2019

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
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

Genomic context

See GART in Genome Data Viewer
Location:
21q22.11
Exon count:
23
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (33503931..33542892, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34876238..34915223, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene ribosomal protein S5 pseudogene 3 Neighboring gene DnaJ heat shock protein family (Hsp40) member C28 Neighboring gene basic transcription factor 3 pseudogene 6 Neighboring gene SON DNA binding protein Neighboring gene microRNA 6501 Neighboring gene uncharacterized LOC107985481

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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC47764

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphoribosylamine-glycine ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphoribosylamine-glycine ligase activity TAS
Traceable Author Statement
more info
 
phosphoribosylformylglycinamidine cyclo-ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphoribosylformylglycinamidine cyclo-ligase activity TAS
Traceable Author Statement
more info
 
phosphoribosylglycinamide formyltransferase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
'de novo' IMP biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
brainstem development IEA
Inferred from Electronic Annotation
more info
 
cerebellum development IEA
Inferred from Electronic Annotation
more info
 
cerebral cortex development IEA
Inferred from Electronic Annotation
more info
 
glycine metabolic process IEA
Inferred from Electronic Annotation
more info
 
purine nucleobase biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
purine nucleotide biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
 
tetrahydrofolate biosynthetic process IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
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

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
    5004..43961
    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
    P22102
    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
    P22102
    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
    P22102
    UniProtKB/TrEMBL
    Q59HH3
    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/Swiss-Prot
    P22102
    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: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    33503931..33542892 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006723990.2XP_006724053.1  trifunctional purine biosynthetic protein adenosine-3 isoform X1

    See identical proteins and their annotated locations for XP_006724053.1

    UniProtKB/Swiss-Prot
    P22102
    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. XM_006723989.2XP_006724052.1  trifunctional purine biosynthetic protein adenosine-3 isoform X1

    See identical proteins and their annotated locations for XP_006724052.1

    UniProtKB/Swiss-Prot
    P22102
    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_005260941.2XP_005260998.1  trifunctional purine biosynthetic protein adenosine-3 isoform X1

    See identical proteins and their annotated locations for XP_005260998.1

    UniProtKB/Swiss-Prot
    P22102
    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_011529526.2XP_011527828.1  trifunctional purine biosynthetic protein adenosine-3 isoform X1

    See identical proteins and their annotated locations for XP_011527828.1

    UniProtKB/Swiss-Prot
    P22102
    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.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315970.2 Reference GRCh38.p13 ALT_REF_LOCI_1

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