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FLASH GENE
Symbol GSS contributors: mct - updated : 05-03-2011
HGNC name glutathione synthetase
HGNC id 4624
Corresponding disease
GSDE hemolytic anemia due to glutathione synthetase deficiency of erythrocytes
GSS pyroglutamicaciduria
Location 20q11.21      Physical location : 33.516.236 - 33.543.601
Synonym name
  • GSH synthetase
    • Synonym symbol(s) GSHS , GSHB, MGC14098
    EC.number 6.3.2.3
    DNA
    TYPE anonymous DNA segment
    STRUCTURE 27.37 kb     13 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Promoter
    text structure two NFE2 sites in the promoter play important roles in the basal expression of GSS and, similar to the GCL subunits
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    13 - 1918 - 474 - 1995 8825653
    11 - - - - detected in colon, kidney, lung, liver, placenta, peripheral blood and uterus, but not in heart, skeletal muscle and spleen tissue 2010 19672693
  • alternative splicing variant
  • an in-frame deletion of 333 bp, corresponding to the complete loss of exons 4 and 5.
    		•
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinelarge intestinecolon highly
     mouth   highly
    Nervousbrain    
    Reproductivefemale systemuteruscervix highly
     male systemprostate   
    Visualeyelens   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • glycine residues in the G-loop maintaining loop flexibility essential for ligand binding and active site closure
    • mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY eukaryotic GSH synthase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    basic FUNCTION
  • essential tripeptide antioxidant, that protects against reactive oxygen species and participates in metabolism of drugs and carcinogens
  • involved in glutathione biosynthesis second step
  • plays an important role in defending the cell against reactive oxygen species
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    sulfur metabolism, glutathione biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    Other regulated by NFE2L2
    ASSOCIATED DISORDERS
    corresponding disease(s) GSS , GSDE
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS