Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol GLB1 contributors: npt - updated : 16-09-2006
HGNC name galactosidase, beta 1
HGNC id 4298
Corresponding disease
GLB1 generalized gangliosidosis, infantile type
GLB1A gangliosidosis, generalized GM1, type III, or adult type
MPS4B mucopolysaccharidosis, type IVB
Location 3p22.3      Physical location : 33.038.099 - 33.138.694
Synonym name
  • elastin binding protein
  • elastin receptor 1, 67kDa
  • acid beta-galactosidase
  • lactase
  • Synonym symbol(s) ELBP, B20G1, ELNR1
    EC.number 3.2.1.23
    DNA
    TYPE functioning gene
    STRUCTURE 100.60 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC339897 3p22.3 similar to calponin 2; Calonin 2 LOC391524 3 similar to Thyroid hormone receptor-associated protein complex 150 kDa component (Trap150) SIMP 3p22.3 source of immunodominant MHC-associated peptides OSBPL10 3p22.3 oxysterol binding protein-like 10 LOC344787 3p22.3 similar to KIAA2033 protein KIAA0089 3p22.3 similar to KIAA2033 protein LOC391525 3 similar to 40S ribosomal protein SA (P40) (34/67 kDa laminin receptor) (Colon carcinoma laminin-binding protein) (NEM/1CHD4) (Multidrug resistance-associated protein MGr1-Ag) CKLFSF8 3p22.3 chemokine-like factor super family 8 CKLFSF7 3p22.3 chemokine-like factor super family 7 CKLFSF6 3p22.3 chemokine-like factor super family 6 LOC285260 3p22.3 similar to ribosomal protein L31 DNCLI1 3p22.2 dynein, cytoplasmic, light intermediate polypeptide 1 LOC391526 3 similar to Immunoglobulin-binding protein 1 (CD79a-binding protein 1) (B cell signal transduction molecule alpha 4) (Alpha 4 protein) CNOT10 3p22.3 CCR4-NOT transcription complex, subunit 10 LOC389101 3 similar to 60S ribosomal protein L23a LOC389102 3 similar to YPLR6490 LOC131405 3p22.3 similar to abnormal cell LINeage LIN-41, heterochronic gene; Drosophila dappled/ vertebrate TRipartite Motif protein related; B-box zinc finger, Filamin and NHL repeat containing protein (123.8 kD) (lin-41) CCR4 3p24 chemokine (C-C motif) receptor 4 LOC389103 3 LOC389103 GLB1 3p21.33 galactosidase, beta 1 CRTAP 3p22 cartilage associated protein KIAA0527 3p22.3 KIAA0527 protein FBXL2 3p24.3 F-box and leucine-rich repeat protein 2 UBP1 3p22.2 upstream binding protein 1 (LBP-1a) CLASP2 3p24.2-p21.33 cytoplasmic linker associated protein 2 LOC389104 3 similar to CLIP-associating protein 1; multiple asters 1 PDCD6IP 3p22.3 programmed cell death 6 interacting protein LOC285307 3p22.2 hypothetical LOC285307 FECHP 3p23-p22 ferrochelatase pseudogene
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    16 splicing 2588 76.1 677 lysosomal Morreau (1994)
  • also called variant 1 or variant beta-D
  • glycoprotein
  • catalyzing the cleavage of the terminal galactose
  • 13 splicing 2195 60.6 546 perinuclear area of the cytoplasm but not to lysosomes Morreau (1994)
  • also called variant 3 or variant beta or S-GAL
  • glycoprotein
  • having no beta-galactosidase catalytic activity
  • playing functional roles in the formation of extracellular elastic fibers (elastogenesis) and in the development of connective tissue
  • functioning as a recycling molecular chaperone which facilitates the secretions of tropoelastin and its assembly into elastic fibers
  • identical to elastin/laminin binding protein
  • 16 - 2500 - 647 - -
    also called variant 2
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Endocrinepancreas    
    Nervousbrain    
    Reproductivemale systemprostate   
    Respiratorylung    
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Connectivebone   
    Connectivecartilage   
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Epithelialsensoryvisual  
    Muscularsmooth   
    Muscularstriatumskeletal  
    Nervouscentral   
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunemacrophage
    Nervousneuron
    Skin/Tegumentkeratinocyte
    Visualganglion cell
    cell lineage chondroblasts
    cell lines cancer cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text nervous system
    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