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FLASH GENE
Symbol GUSB contributors: mct/npt/shn - updated : 15-05-2012
HGNC name glucuronidase, beta
HGNC id 4696
DNA
TYPE functioning gene
STRUCTURE 21.58 kb     12 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence cytosine-phosphate-guanine/HTF
motif repetitive sequence   ALU
text structure 37 ALU repeats
MAPPING cloned Y linked N status confirmed
Map cen - D7S2512 - D7S2549 - GUSB - D7S663 - D7S502 - qter
Physical map
MGC42415 7q11.21 hypothetical protein MGC42415 LOC346319 7q11.21 similar to zinc finger protein 92 (HTF12) LOC154849 7q11.21 similar to tyrosine 3/tryptophan 5 -monooxygenase activation protein, epsilon polypeptide; 14-3-3 epsilon; mitochondrial import stimulation factor L subunit; protein kinase C inhibitor protein-1 LOC392052 7 similar to hypothetical protein FLJ90430 FLJ90430 7q11.21 hypothetical protein FLJ90430 LOC392053 7 similar to Opioid binding protein/cell adhesion molecule precursor (OBCAM) (Opioid-binding cell adhesion molecule) (OPCML) ZFD25 7q11.2 similar to Opioid binding protein/cell adhesion molecule precursor (OBCAM) (Opioid-binding cell adhesion molecule) (OPCML) LOC253883 7q11.21 similar to myelin protein zero-like 1; protein zero related ZNF138 7q11.21-q11.23 zinc finger protein 138 (clone pHZ-32) LOC168474 7q11.21 selenophosphate synthetase pseudogene MGC12518 7q11.21 similar to ZINC FINGER PROTEIN 257 (BONE MARROW ZINC FINGER 4) (BMZF-4) LOC389505 7 LOC389505 ZNF117 7q11.2 zinc finger protein 117 (HPF9) H-plk 7q11.21 Krueppel-related zinc finger protein FLJ25037 7q11.21 hypothetical protein FLJ25037 LOC389506 7 LOC389506 ZNF92 19p13.1-p12 zinc finger protein 92 (HTF12) LOC392054 7 similar to protein kinase related to Raf protein kinases; Method: conceptual translation supplied by author LOC389507 7 similar to hypothetical protein FLJ25037 LOC392055 7 similar to protein kinase related to Raf protein kinases; Method: conceptual translation supplied by author LOC392056 7 similar to metabotropic glutamate receptor 8; G protein-coupled receptor, family C, group 1, member H LOC389508 7 similar to hypothetical protein MGC16733 similar to CG12113 LOC389509 7 similar to RIKEN cDNA 2610034N24 LOC389510 7 LOC389510 DKFZp434F142 7q11.21 hypothetical protein DKFZp434F142 LOC154807 GUSB 7q22.1 glucuronidase, beta LOC392057 7 similar to Gcp16 protein ASL 7cen-q11.2 argininosuccinate lyase RCP9 7q11.21 calcitonin gene-related peptide-receptor component protein TPST1 7q11.21 tyrosylprotein sulfotransferase 1 LOC285908 7q11.21 hypothetical protein LOC285908 TCEB1P 5q31.1 transcription elongation factor B (SIII), polypeptide 1 pseudogene LOC389511 7 similar to RAB guanine nucleotide exchange factor (GEF) 1 LOC346329 7q11.21 similar to Guanine nucleotide-binding protein, alpha-11 subunit (GL2) LOC389512 7 LOC389512 LOC154880 7q11.21 similar to 60S ribosomal protein L35 KCTD7 7q11.21 potassium channel tetramerisation domain containing 7 RABGEF1 7q11.21 RAB guanine nucleotide exchange factor (GEF) 1 LOC285911 7q11.22 similar to ribosomal protein L31 FLJ10099 7q11.22 hypothetical protein FLJ10099 SBDS 7q11.21 Shwachman-Bodian-Diamond syndrome FLJ10900 7q11.22 hypothetical protein FLJ10900 LOC155081 7q11.22 hypothetical gene supported by AL137266 LOC389513 7 similar to PMS5 homolog mismatch repair protein - human FLJ13195 7p11.2-q11.2 hypothetical protein FLJ13195 similar to stromal antigen 3
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
12 - 2245 75 651 - Gratz (2005)
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularheart    
Digestiveliver    
Nervousbrain    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoietic    
Connectivebone   
Connectivecartilage   
Nervouscentral   
Nervousperipherous   
cells
SystemCellPubmedSpeciesStageRna symbol
 digestive
Blood/Hematopoieticneutrophil
Nervousneuron
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period pregnancy
Text placenta
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated GlycoP , PhosphoP
mono polymer homomer , tetramer
HOMOLOGY
interspecies ortholog to Gusb, Mus musculus
ortholog to GUSB, pan troglodytes
ortholog to Gusb, rattus norvegicus
ortholog to gusb, Danio rerio
Homologene
FAMILY
  • glycosyl hydrolase 2 family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    basic FUNCTION
  • glucuronidase, beta, acting on dermatan sulfate, heparan sulfate
  • catalyzing the fifth step of degradation of glucosaminoglycans (mucopolysaccharides)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate
    signaling
    glycosaminoglycan catabolism
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • egasyn, EG (
  • cell & other
    REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) MPS7
    related resource Mucopolysaccharidosis
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
  • Gene therapy by transfer of a beta-glucuronidase gene into mutant haematopoietic mouse stem cells results in long-term expression of low levels of beta-glucuronidase which partially corrects the mucopolysaccharidosis VII by reducing lysosomal storage in liver and spleen (
  • A retroviral vector expressing the full-length canine beta-glucuronidase cDNA corrected the deficiency in MPS VII cells (
  • ANIMAL & CELL MODELS
  • inherited deficiency of beta-glucuronidase in mice causes mucopolysaccharidosis VII, a progressive degenerative disease that reduces lifespan and results from lysosomal storage of undegraded glycosaminoglycans in the spleen, liver, kidney, cornea, brain and skeletal system (
  • Beta-glucuronidase deficiency in dog leads to mucopolysaccharidosis type VII (
  • mice with beta-glucuronidase deficiency display lysosomal storage disease with similarities to human mucopolysaccharidosis type VII (
  • Cats with beta-glucuronidase deficiency display walking difficulties, an enlarged abdomen, facial dysmorphism, plump paws, corneal clouding, granulation of neutrophils, and vacuolated lymphocytes (
  • Affected gus(mps2J)/gus(mps2J) mice are deficient in beta-glucuronidase because of insertion of an intracisternal A particle element into intron 8, have have < 1% of normal beta-glucuronidase activity and secondary elevations of other lysosomal enzymes and the phenotype includes shortened life-span, dysmorphic features, and skeletal dysplasia (
  • E536A mutant mice have no GUS activity in any tissue and display a severe MPS VII phenotype, E536Q and L175F mutant mice have low levels of residual activity and milder MPS VII phenotypes (
  • MPSVII-iPS cells demonstrated a markedly impaired ability to form embryoid bodies in vitro, and MPSVII-embryoid bodies exibited elevated levels of hyaluronan and its receptor CD44, and markedly reduced expression levels of E-cadherin and cell-proliferating marker (