Human Gene GART (ENST00000381839.7) from GENCODE V44
  Description: Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 4, mRNA. (from RefSeq NM_001136006)
RefSeq Summary (NM_001136006): 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].
Gencode Transcript: ENST00000381839.7
Gencode Gene: ENSG00000159131.17
Transcript (Including UTRs)
   Position: hg38 chr21:33,503,931-33,542,861 Size: 38,931 Total Exon Count: 22 Strand: -
Coding Region
   Position: hg38 chr21:33,504,124-33,539,315 Size: 35,192 Coding Exon Count: 21 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr21:33,503,931-33,542,861)mRNA (may differ from genome)Protein (1010 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: PUR2_HUMAN
DESCRIPTION: RecName: Full=Trifunctional purine biosynthetic protein adenosine-3; Includes: RecName: Full=Phosphoribosylamine--glycine ligase; EC=6.3.4.13; AltName: Full=Glycinamide ribonucleotide synthetase; Short=GARS; AltName: Full=Phosphoribosylglycinamide synthetase; Includes: RecName: Full=Phosphoribosylformylglycinamidine cyclo-ligase; EC=6.3.3.1; AltName: Full=AIR synthase; Short=AIRS; AltName: Full=Phosphoribosyl-aminoimidazole synthetase; Includes: RecName: Full=Phosphoribosylglycinamide formyltransferase; EC=2.1.2.2; AltName: Full=5'-phosphoribosylglycinamide transformylase; AltName: Full=GAR transformylase; Short=GART;
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.
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.
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.

-  Primer design for this transcript
 

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Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GART
Diseases sorted by gene-association score: intrahepatic bile duct adenoma (5), ureter leiomyoma (4)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 24.35 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 409.03 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -73.50243-0.302 Picture PostScript Text
3' UTR -40.10193-0.208 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR010918 - AIR_synth_C_dom
IPR000728 - AIR_synth_N_dom
IPR011761 - ATP-grasp
IPR013815 - ATP_grasp_subdomain_1
IPR013816 - ATP_grasp_subdomain_2
IPR002376 - Formyl_transf_N
IPR001555 - GART_AS
IPR016185 - PreATP-grasp_fold
IPR020561 - PRibGlycinamid_synth_ATP-grasp
IPR000115 - PRibGlycinamide_synth
IPR020560 - PRibGlycinamide_synth_C-dom
IPR020559 - PRibGlycinamide_synth_CS
IPR020562 - PRibGlycinamide_synth_N
IPR004733 - PurM_cligase
IPR016188 - PurM_N-like
IPR004607 - PurN_trans
IPR011054 - Rudment_hybrid_motif

Pfam Domains:
PF00586 - AIR synthase related protein, N-terminal domain
PF02769 - AIR synthase related protein, C-terminal domain
PF00551 - Formyl transferase
PF01071 - Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
PF02843 - Phosphoribosylglycinamide synthetase, C domain
PF02844 - Phosphoribosylglycinamide synthetase, N domain

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1MEJ - X-ray MuPIT 1MEN - X-ray MuPIT 1MEO - X-ray MuPIT 1NJS - X-ray MuPIT 1RBM - X-ray MuPIT 1RBQ - X-ray MuPIT 1RBY - X-ray MuPIT 1RBZ - X-ray MuPIT 1RC0 - X-ray MuPIT 1RC1 - X-ray MuPIT 1ZLX - X-ray MuPIT 1ZLY - X-ray MuPIT 2QK4 - X-ray MuPIT 2V9Y - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on P22102
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000166 nucleotide binding
GO:0003824 catalytic activity
GO:0004637 phosphoribosylamine-glycine ligase activity
GO:0004641 phosphoribosylformylglycinamidine cyclo-ligase activity
GO:0004644 phosphoribosylglycinamide formyltransferase activity
GO:0005524 ATP binding
GO:0016740 transferase activity
GO:0016742 hydroxymethyl-, formyl- and related transferase activity
GO:0016874 ligase activity
GO:0046872 metal ion binding

Biological Process:
GO:0003360 brainstem development
GO:0006164 purine nucleotide biosynthetic process
GO:0006189 'de novo' IMP biosynthetic process
GO:0006544 glycine metabolic process
GO:0008152 metabolic process
GO:0009058 biosynthetic process
GO:0009113 purine nucleobase biosynthetic process
GO:0009156 ribonucleoside monophosphate biosynthetic process
GO:0009168 purine ribonucleoside monophosphate biosynthetic process
GO:0010033 response to organic substance
GO:0010035 response to inorganic substance
GO:0021549 cerebellum development
GO:0021987 cerebral cortex development
GO:0046654 tetrahydrofolate biosynthetic process

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular exosome


-  Descriptions from all associated GenBank mRNAs
  BC068438 - Homo sapiens cDNA clone IMAGE:4825064, containing frame-shift errors.
AK292897 - Homo sapiens cDNA FLJ78616 complete cds, highly similar to Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase (GART), transcript variant 1, mRNA.
X54199 - Human mRNA for GARS-AIRS-GART.
BX648124 - Homo sapiens mRNA; cDNA DKFZp686F0640 (from clone DKFZp686F0640).
BC107712 - Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase, mRNA (cDNA clone MGC:104169 IMAGE:6701741), complete cds.
AB208785 - Homo sapiens mRNA for phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase isoform 1 variant protein.
M32082 - Human phosphoribosylglycinamide formyltransferase (PGFT) mRNA, 3' end.
AK292560 - Homo sapiens cDNA FLJ75146 complete cds, highly similar to Human mRNA for GARS-AIRS-GART.
AK295980 - Homo sapiens cDNA FLJ51866 complete cds, highly similar to Trifunctional purine biosynthetic protein adenosine-3.
JD177811 - Sequence 158835 from Patent EP1572962.
JD332586 - Sequence 313610 from Patent EP1572962.
AB590079 - Synthetic construct DNA, clone: pFN21AB3014, Homo sapiens GART gene for phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase, without stop codon, in Flexi system.
AF008655 - Homo sapiens GARS-AIRS-GART mRNA, partial cds.
BC038958 - Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase, mRNA (cDNA clone IMAGE:5789599), complete cds.
D32051 - Homo sapiens mRNA for GARS protein, complete cds.
BC101565 - Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase, transcript variant 2, mRNA (cDNA clone IMAGE:8069071), complete cds.
BC093641 - Homo sapiens phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase, mRNA (cDNA clone IMAGE:7939486), complete cds.
JD026964 - Sequence 7988 from Patent EP1572962.
JD030739 - Sequence 11763 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa00230 - Purine metabolism
hsa00670 - One carbon pool by folate
hsa01100 - Metabolic pathways

Reactome (by CSHL, EBI, and GO)

Protein P22102 (Reactome details) participates in the following event(s):

R-HSA-73814 5-Phosphoribosylamine + Glycine + ATP => GAR + ADP + Pi
R-HSA-73813 GAR + 10-Formyl-THF => FGAR + THF
R-HSA-73810 FGAM + ATP => AIR + ADP + Pi
R-HSA-73817 Purine ribonucleoside monophosphate biosynthesis
R-HSA-8956320 Nucleobase biosynthesis
R-HSA-15869 Metabolism of nucleotides
R-HSA-1430728 Metabolism

-  Other Names for This Gene
  Alternate Gene Symbols: A8K945, A8KA32, D3DSF3, D3DSF4, ENST00000381839.1, ENST00000381839.2, ENST00000381839.3, ENST00000381839.4, ENST00000381839.5, ENST00000381839.6, NM_001136006, O14659, P22102, PGFT, PRGS, PUR2_HUMAN, Q52M77, uc002yry.1, uc002yry.2, uc002yry.3, uc002yry.4
UCSC ID: ENST00000381839.7
RefSeq Accession: NM_001136006
Protein: P22102 (aka PUR2_HUMAN)
CCDS: CCDS13627.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.