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FLASH GENE
Symbol GART contributors: - updated : 07-11-2006
HGNC name phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase
HGNC id 4163
Location 21q22.1      Physical location : 34.876.238 - 34.915.198
Synonym symbol(s) PFGS, PGFT, PRGS, AIRS, TFPS, GARS, PAIS, GARTF
EC.number 2.1.2.2, 6.3.3.1, 6.3.4.13
DNA
TYPE functioning gene
STRUCTURE 38.00 kb     23 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
text alternatively spliced isoform of TFPS, trifunctional (110 kDa) and monofunctional (50kDa) (Brodsky)
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
- splicing 2162 45 433 - -
  • 11 exons
  • missing the 3' end exons compared to transcript variant 1
  • - splicing 3300 107 1010 - -
  • 22 exons
  • EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularvessel   highly
    Digestiveliver   moderately
     mouth   moderately
     salivary gland   moderately
    Endocrineneuroendocrinepituitary  moderately
    Lymphoid/Immunespleen   highly
    Nervousbrainhindbraincerebellum  
     brain    
    Reproductivefemale systemuteruscervix highly
     male systemtestis  predominantly
    Respiratoryrespiratory tracttrachea  highly
    Urinarybladder   moderately
    Visualeye   moderately
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Connectivebone  moderately
    cell lineage
    cell lines
    fluid/secretion highly in lymph
    at STAGE
    physiological period fetal
    Text cerebellum
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a ATP-grasp domain
  • conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to chimpanzee GART (98.9 pc)
    homolog to rattus Gart (86.5 pc)
    homolog to murine Gart (85.5 pc)
    Homologene
    FAMILY
  • GARS family
  • AIR synthase family
  • GART family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • catalyzing the third step of the de novo purine biosynthesis (see TFPS) leading to formylglycinamide ribonucleotide (FGAR)
  • phosphoribosyl glycineamide synthetase
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism purine/pyrimidine
    signaling
    a component
  • component of the trifunctional enzyme
  • INTERACTION
    DNA
    RNA
    small molecule nucleotide,
  • ATP
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    only in individuals with Down syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene for a chemotherapeutic target for several decades
    Marker
    Therapy target
    ANIMAL & CELL MODELS