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Description for Protein GLB1

galactosidase, beta 1
4 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(platelet: 5; undefined: 1)
Summary:
This gene encodes beta-galactosidase-1, a lysosomal enzyme that hydrolyzes the terminal beta-galactose from ganglioside substrates and other glycoconjugates. Defects in this gene are the cause of GM1-gangliosidosis and Morquio B syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.2.1.23
    KEGG - Orthology:
    K12309
    KEGG - Pathway(s):
    hsa00052; hsa00511; hsa00531; hsa00600; hsa00604; hsa01100; hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Galactosidase beta 1; Elastin binding protein; Beta GALA; Galactosidase, beta 1 isoform b
    Approved Symbol:
    GLB1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 4
    Human (de-) phosphorylation sites: 4; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

  • GM1 gangliosidosis, infantile type(Pd);
  • GM1 gangliosidosis, late infantile type(Pd);
  • GM1-gangliosidosis, adult/chronic type(Pd);
  • GM1-gangliosidosis, infantile type(Pd);
  • GM1-gangliosidosis, late infantile/juvenile type(Pd);
  • Morquio syndrome, type B(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 3 : 0
  • Isoform 2 : 0
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01975 Entrez Gene ID: 2720 OMIM ID: 611458 Swissprot Accession: P16278;