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FLASH GENE
Symbol GLB1 contributors: npt - updated : 16-09-2006
HGNC name galactosidase, beta 1
HGNC id 4298
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • putative signal sequence of 23 AA
  • seven asporagino-linkde glyosylation sites
    • conjugated GlycoP
    HOMOLOGY
    interspecies ortholog to murine Glb1
    homolog to Drosophila CG3132
    homolog to C.elegans T19B10.3
    intraspecies homolog to identical to elastin/laminin binding protein
    Homologene
    FAMILY
  • glycosyl hydrolase 35 family
    • CATEGORY enzyme , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,organelle,Golgi
    intracellular,cytoplasm,organelle,endosome
    intracellular,cytoplasm,organelle,lysosome
    text immobilized on cell surface
    basic FUNCTION
  • oligosaccharides, keratan sulfate, stepwise degradation of sphingolipids, glycosaminoglycans (mucopolysaccharides)
  • acting on GM1 gangliosides
  • catalyzing the cleavage of the terminal galactose
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism carbohydrate , lipid/lipoprotein
    signaling
    a component
  • complexing with neuramidase and protective protein A(PPGB)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to tropoelastin in elastin producing cells facilitating the secretion of tropoelastin and its assembly into elastic fibers
    • cell & other
  • binding to matrix ligands in the absence of galactosugars
    • REGULATION
    Other targeted to the lysosome by M6P receptor mediated pathway
    ASSOCIATED DISORDERS
    corresponding disease(s) GLB1 , MPS4B , GLB1A
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS