Homo sapiens Gene: GART
Summary
InnateDB Gene IDBG-2218.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GART
Gene Name phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
Synonyms AIRS; GARS; GARTF; PAIS; PGFT; PRGS;
Species Homo sapiens
Ensembl Gene ENSG00000159131
Encoded Proteins
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 21:33503931-33543491
Strand Reverse strand
Band q22.11
Transcripts
ENST00000381839 ENSP00000371261
ENST00000381831 ENSP00000371253
ENST00000381815 ENSP00000371236
ENST00000361093 ENSP00000354388
ENST00000366093 ENSP00000409771
ENST00000424203 ENSP00000390003
ENST00000430874 ENSP00000413040
ENST00000426819 ENSP00000398631
ENST00000438059 ENSP00000413803
ENST00000441403 ENSP00000407783
ENST00000482663
ENST00000487155
ENST00000460305
ENST00000467575
ENST00000466882
ENST00000497313
ENST00000476524
ENST00000488791
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 37 experimentally validated interaction(s) in this database.
Experimentally validated
Total 37 [view]
Protein-Protein 36 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
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:0008168 methyltransferase activity
GO:0016742 hydroxymethyl-, formyl- and related transferase activity
GO:0046872 metal ion binding
Biological Process
GO:0003360 brainstem development
GO:0006144 purine nucleobase metabolic process
GO:0006189 'de novo' IMP biosynthetic process
GO:0006544 glycine 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:0032259 methylation
GO:0044281 small molecule metabolic process
GO:0046654 tetrahydrofolate biosynthetic process
GO:0055086 nucleobase-containing small molecule metabolic process
Cellular Component
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Purine ribonucleoside monophosphate biosynthesis pathway
Purine metabolism pathway
Metabolism of nucleotides pathway
Metabolism pathway
KEGG
Purine metabolism pathway
One carbon pool by folate pathway
INOH
Folate metabolism pathway
Purine nucleotides nucleosides metabolism pathway
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.473648 Hs.604526 Hs.732078
RefSeq NM_000819 NM_001136005 NM_001136006 NM_175085 XM_005260941 XM_006723988 XM_006723989 XM_006723990
HUGO
OMIM
CCDS CCDS13627 CCDS13628
HPRD 00716
IMGT
EMBL
GenPept
RNA Seq Atlas