Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GGH contributors: mct - updated : 29-08-2006
HGNC name gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)
HGNC id 4248
Location 8q12.3      Physical location : 63.927.642 - 63.951.610
Synonym name folylpolygammaglutamyl hydrolase
Synonym symbol(s) GH
EC.number 3.4.19.9
DNA
TYPE functioning gene
STRUCTURE 24.00 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
cytosine-phosphate-guanine/HTF
text structure
  • two CpG islands (CpG1 and CpG2) in the region extending from the GGH promoter through the first exon and into intron 1
  • polymorphisms in promoter may increase expression of GGH protein, multiple transcriptional start sites, in the CpG2 region
  • MAPPING cloned Y linked   status provisional
    Map cen - D8S510 - GGH - TTPA - D8S1841 - D8S553 - qter
    Authors Gene Map (98)
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver   highly
    Lymphoid/Immunespleen    
    Reproductivefemale systemuteruscervix  
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N terminal leader sequence
  • four ASN-glycosylation sites
  • mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • involved in the metabolism of folic acid
  • may play an important role in the bioavailability of dietary pteroylpolyglutamates and in the metabolism of pteroylpolyglutamates and antifolates
  • key enzyme in the metabolism of folic acid and in the pharmacology of many antifolate drugs
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    by hypermethylation in leukemia cells
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS