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Description for Protein GUSB

glucuronidase, beta
3 total interacting proteins; 2 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 1/1)
(platelet: 3; undefined: 1)
Summary:
This gene encodes a hydrolase that degrades glycosaminoglycans, including heparan sulfate, dermatan sulfate, and chondroitin-4,6-sulfate. The enzyme forms a homotetramer that is localized to the lysosome. Mutations in this gene result in mucopolysaccharidosis type VII. There are many pseudogenes of this locus in the human genome. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.2.1.31
    KEGG - Orthology:
    K01195
    KEGG - Pathway(s):
    hsa00040; hsa00500; hsa00531; hsa00860; hsa00983; hsa01100; hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Beta-G1; EC 3.2.1.31
    Approved Symbol:
    GUSB
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 1
    Human (de-) phosphorylation sites: 1; 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):

  • Alpha-D-Mannose(db)

    Associated Genetic Diseases:

  • Mucopolysaccharidosis type VII(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 02018 Entrez Gene ID: 2990 OMIM ID: 611499 Swissprot Accession: P08236;