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FLASH GENE
Symbol GBA3 contributors: SGE - updated : 21-02-2008
HGNC name glucosidase, beta, acid 3 (cytosolic)
HGNC id 19069
Location 4p15.31      Physical location : 22.694.547 - 22.821.191
Synonym name
  • cytosolic beta-glucosidase-like protein 1
  • Klotho-related protein
  • Synonym symbol(s) CBGL1, GLUC, KlrP, MGC104276, MGC126878
    EC.number 3.2.1.21
    DNA
    TYPE functioning gene
    STRUCTURE 126.00 kb     5 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    5 - 2125 53 469 - -
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
    Digestiveintestinesmall intestine   
     intestinelarge intestinecolon  
     liver   predominantly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cell lineage
    cell lines down regulated in renal cell carcinomas and hepatocellular carcinomas
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    one beta-glucosidase-like domain with two conserved active-site glu residues
    HOMOLOGY
    interspecies homolog to dog GBA3 (87.8pc)
    Homologene
    FAMILY glycosyl hydrolase 1 family, Klotho subfamily
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • hydrolyzing beta-D glucoside and beta-D galactoside but any known physiologic beta-glucoside, suggesting that it may be involved in the detoxification of plant glycosides
  • also having a significant neutral glycosylceramidase activity, suggesting that it may be involved in a nonlysosomal catabolic pathway of glucosylceramide metabolism
  • probably involved in the intestinal absorption and metabolism of dietary flavonoid glycosides
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    inhibited by 2,4 dinitophenyl-2-fluoro-2-deoxy-beta-D-glucopyranoside and sodium taurocholate
    ASSOCIATED DISORDERS
    ANIMAL & CELL MODELS