GART
Trifunctional purine biosynthetic protein adenosine-3
Also known as: GARS-AIRS-GART, PGFT, PRGS, PUR2_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- P22102
- Gene
- GART
- Ensembl
- ENSG00000159131
- Chromosome
- 21
- Canonical length
- 1010 aa
- Protein class
- Enzymes, FDA approved drug targets, Metabolic proteins, Plasma proteins, Predicted intracellular proteins
- Subcellular location
- Mitochondria,Cytosol
- Quaternary structure
- Homodimer
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
1010 residues, UniProt reviewed canonical sequence.
>P22102|GART
1 MAARVLIIGS GGREHTLAWK LAQSHHVKQV LVAPGNAGTA CSEKISNTAI SISDHTALAQ
61 FCKEKKIEFV VVGPEAPLAA GIVGNLRSAG VQCFGPTAEA AQLESSKRFA KEFMDRHGIP
121 TAQWKAFTKP EEACSFILSA DFPALVVKAS GLAAGKGVIV AKSKEEACKA VQEIMQEKAF
181 GAAGETIVIE ELLDGEEVSC LCFTDGKTVA PMPPAQDHKR LLEGDGGPNT GGMGAYCPAP
241 QVSNDLLLKI KDTVLQRTVD GMQQEGTPYT GILYAGIMLT KNGPKVLEFN CRFGDPECQV
301 ILPLLKSDLY EVIQSTLDGL LCTSLPVWLE NHTALTVVMA SKGYPGDYTK GVEITGFPEA
361 QALGLEVFHA GTALKNGKVV THGGRVLAVT AIRENLISAL EEAKKGLAAI KFEGAIYRKD
421 VGFRAIAFLQ QPRSLTYKES GVDIAAGNML VKKIQPLAKA TSRSGCKVDL GGFAGLFDLK
481 AAGFKDPLLA SGTDGVGTKL KIAQLCNKHD TIGQDLVAMC VNDILAQGAE PLFFLDYFSC
541 GKLDLSVTEA VVAGIAKACG KAGCALLGGE TAEMPDMYPP GEYDLAGFAV GAMERDQKLP
601 HLERITEGDV VVGIASSGLH SNGFSLVRKI VAKSSLQYSS PAPDGCGDQT LGDLLLTPTR
661 IYSHSLLPVL RSGHVKAFAH ITGGGLLENI PRVLPEKLGV DLDAQTWRIP RVFSWLQQEG
721 HLSEEEMART FNCGVGAVLV VSKEQTEQIL RDIQQHKEEA WVIGSVVARA EGSPRVKVKN
781 LIESMQINGS VLKNGSLTNH FSFEKKKARV AVLISGTGSN LQALIDSTRE PNSSAQIDIV
841 ISNKAAVAGL DKAERAGIPT RVINHKLYKN RVEFDSAIDL VLEEFSIDIV CLAGFMRILS
901 GPFVQKWNGK MLNIHPSLLP SFKGSNAHEQ ALETGVTVTG CTVHFVAEDV DAGQIILQEA
961 VPVKRGDTVA TLSERVKLAE HKIFPAALQL VASGTVQLGE NGKICWVKEELocalizationUniProt · AlphaFold · HPA
Whether an antibody against GART can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.24
- Highest tissue expression
- 36 nTPM
Expression across tissuesHPA
Tissue
- tonsil: 36 nTPM
- thymus: 32 nTPM
- urinary bladder: 30 nTPM
- lymph node: 28 nTPM
- liver: 28 nTPM
- testis: 27 nTPM
Single-cell type
- cardiomyocytes: 189 nCPM
- epicardial cells: 141 nCPM
- erythrocyte progenitors: 111 nCPM
- basal keratinocytes: 70 nCPM
- suprabasal keratinocytes: 67 nCPM
- megakaryocyte progenitors: 66 nCPM
Immune cell
- NK-cell: 44 nTPM
- T-reg: 34 nTPM
- intermediate monocyte: 34 nTPM
- myeloid DC: 32 nTPM
- MAIT T-cell: 31 nTPM
- non-classical monocyte: 31 nTPM
Brain region
- white matter: 30 nTPM
- basal ganglia: 28 nTPM
- medulla oblongata: 27 nTPM
- spinal cord: 27 nTPM
- cerebellum: 27 nTPM
- hypothalamus: 26 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about GART.
Disease | GeneticClinVar
1 pathogenic / likely-pathogenic of 145 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.5
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.11
- DepMap mean gene effect
- -0.52
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- 'de novo' AMP biosynthetic process
- 'de novo' IMP biosynthetic process
- 'de novo' XMP biosynthetic process
- brainstem development
- cerebellum development
- cerebral cortex development
- GMP biosynthetic process
- purine nucleotide biosynthetic process
- purine ribonucleoside monophosphate biosynthetic process
- adenine biosynthetic process
Molecular functions
- ATP binding
- metal ion binding
- phosphoribosylamine-glycine ligase activity
- phosphoribosylformylglycinamidine cyclo-ligase activity
- phosphoribosylglycinamide formyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Phosphoribosylglycinamide formyltransferase, active site
- Formyl transferase, N-terminal
- PurM-like, C-terminal domain
- Rudiment single hybrid motif
- ATP-grasp fold
- ATP-grasp fold, subdomain 1
- Pre-ATP-grasp domain superfamily
- PurM-like, N-terminal domain
- Formyl transferase, N-terminal domain superfamily
- PurM-like, C-terminal domain superfamily
- PurM-like, N-terminal domain superfamily
- Formyl transferase
- AIR synthase related protein, N-terminal domain
- AIR synthase related protein, C-terminal domain
- Phosphoribosylglycinamide synthetase
- Phosphoribosylglycinamide formyltransferase
- Phosphoribosylformylglycinamidine cyclo-ligase
- Phosphoribosylglycinamide synthetase, conserved site
- Phosphoribosylglycinamide synthetase, C-domain
- Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
- Phosphoribosylglycinamide synthetase, N-terminal
- Phosphoribosylglycinamide synthetase, C-domain superfamily
- Phosphoribosylglycinamide synthetase, ATP-grasp (A) domain
- Phosphoribosylglycinamide synthetase, C domain
- Phosphoribosylglycinamide synthetase, N domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads GART as an antibody target. Whether an autoantibody or antibody against GART could matter depends on whether native GART is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
GART is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label GART as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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