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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)
    Physical map
    CA8 8q11-q12 carbonic anhydrase VIII LOC392225 8 similar to IAP-associated factor VIAF1; phosducin-like 2 RAB2 8q12.1 RAB2, member RAS oncogene family KIAA1416 8q12.1 KIAA1416 protein LOC282694 LOC157813 8q12.2 hypothetical LOC157813 NPM1P6 8q12.2 nucleophosmin 1 (nucleolar phosphoprotein B23, numatrin) pseudogene 6 MGC34646 8q12.2 hypothetical protein MGC34646 ASPH 8q12.1 aspartate beta-hydroxylase LOC392226 8 similar to Serine/threonine-protein kinase PLK (PLK-1) (Serine-threonine protein kinase 13) (STPK13) FLJ39630 8q12.2 hypothetical protein FLJ39630 GGH 8q12-q13 gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase) TTPA 8q13 tocopherol (alpha) transfer protein (ataxia (Friedreich-like) with vitamin E deficiency) FLJ31657 8q12.2 hypothetical protein FLJ31657 LOC346974 8q12.3 similar to Interferon-induced transmembrane protein 3 (Interferon-inducible protein 1-8U) BHLHB5 8q13 basic helix-loop-helix domain containing, class B, 5 CYP7B1 8q21.3 cytochrome P450, family 7, subfamily B, polypeptide 1 LOC389665 8 LOC389665 LOC392227 8 similar to peptidylprolyl isomerase A FLJ10511 8q12.3 armadillo repeat containing protein CHPPR 8q12.3 likely ortholog of chicken chondrocyte protein with a poly-proline region PDE7A 8q13 phosphodiesterase 7A MGC26226 8q12.3 beta cysteine string protein RNF29 8q12.3 ring finger protein 29 CRH 8q13 corticotropin releasing hormone RRS1 8q12.3 RRS1 ribosome biogenesis regulator homolog (S. cerevisiae) ADHFE1 8q12.3 alcohol dehydrogenase, iron containing, 1 MGC33510 8q12.3 hypothetical protein MGC33510 MYBL1 8q22 v-myb myeloblastosis viral oncogene homolog (avian)-like 1 VCIP135 8q13 valosin-containing protein (p97)/p47 complex-interacting protein p135 FLJ11267 8q13.1 hypothetical protein FLJ11267 PTTG3 8q13.1 hypothetical protein FLJ11267 SGKL 8q12.3-q13.1 serum/glucocorticoid regulated kinase-like FLJ25692 8q13.1 hypothetical protein FLJ25692
    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