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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
    Physical map
    LOC391244 20 similar to ribosomal protein S2; 40S ribosomal protein S2 XPOTP1 20q11.21 exportin, tRNA (nuclear export receptor for tRNAs) pseudogene 1 ASIP 20q11.21 agouti signaling protein, nonagouti homolog (mouse) AHCY 20cen-q13.1 S-adenosylhomocysteine hydrolase ITCH 20q11.22-23 itchy homolog E3 ubiquitin protein ligase (mouse) CDC42P1 20q11.22 cell division cycle 42 pseudogene 1 FDXP1 20cen-q13.1 ferredoxin pseudogene 1 FLJ38773 20q11.22 hypothetical protein FLJ38773 DNCL2A 20q12-q13.1 dynein, cytoplasmic, light polypeptide 2A MAP1LC3A 20cen-q13 microtubule-associated protein 1 light chain 3 alpha CDC91L1 20q11.21 CDC91 cell division cycle 91-like 1 (S. cerevisiae) NCOA6 20q11 nuclear receptor coactivator 6 HMG4L 20q11.21 high-mobility group (nonhistone chromosomal) protein 4-like GGTL3 20pter-p13 gamma-glutamyltransferase-like 3 ACAS2 20q11.2-q12 acetyl-Coenzyme A synthetase 2 (ADP forming) GSS 20q11.21 glutathione synthetase MYH7B 20q11.21 myosin, heavy polypeptide 7B, cardiac muscle, beta TRPC4AP 20q11.23 transient receptor potential cation channel, subfamily C, member 4 associated protein C20orf31 20q11.23 chromosome 20 open reading frame 31 PROCR 20q11.21 protein C receptor, endothelial (EPCR) MMP24 20q11.2 matrix metalloproteinase 24 (membrane-inserted) ITGB4BP 20q11.2 integrin beta 4 binding protein C20orf128 20q11.21 chromosome 20 open reading frame 128 C20orf44 20q11.23 chromosome 20 open reading frame 44 GDF5 20q11.2 growth differentiation factor 5 (cartilage-derived morphogenetic protein-1) CEP2 20pter-q12 centrosomal protein 2 LOC343705 20q11.23 similar to beta-galactoside alpha-2,3-sialyltransferase C20orf173 20q11.22 chromosome 20 open reading frame 173 SDBCAG84 20pter-q12 serologically defined breast cancer antigen 84 FER1L4 20q11.21 fer-1-like 4 (C. elegans) RPL37P1 11q13 ribosomal protein L37 pseudogene 1 LOC375095 20q11.23 similar to dJ309K20.1.1 (novel protein similar to dysferlin, isoform 1) SPAG4 20q11.2 sperm associated antigen 4 CPNE1 20q11.21 copine I RBM12 20q11.21 RNA binding motif protein 12 NFS1 20q11-q12 NFS1 nitrogen fixation 1 (S. cerevisiae)
    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