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Description for Protein NEU1

sialidase 1 (lysosomal sialidase)
4 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The protein encoded by this gene is a lysosomal enzyme that cleaves terminal sialic acid residues from substrates such as glycoproteins and glycolipids. In the lysosome, this enzyme is part of a heterotrimeric complex together with beta-galactosidase and cathepsin A (the latter is also referred to as 'protective protein'). Mutations in this gene can lead to sialidosis, a lysosomal storage disease that can be type 1 (cherry red spot-myoclonus syndrome or normosomatic type), which is late-onset, or type 2 (the dysmorphic type), which occurs at an earlier age with increased severity. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.2.1.18
    KEGG - Orthology:
    K01186
    KEGG - Pathway(s):
    hsa00511; hsa00600; hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    SIAL1; NANH; Sialidase 1; G9 sialidase; Exo-alpha-sialidase; Sialidase, lysosomal; Acetylneuraminyl hydrolase; N-acetyl-alpha-neuraminidase 1
    Approved Symbol:
    NEU1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 3
    Human (de-) phosphorylation sites: 3; 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):

  • Oseltamivir(db)

    Associated Genetic Diseases:

  • Sialidosis, type I(Pd);
  • Sialidosis, type II(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 09751 Entrez Gene ID: 4758 OMIM ID: 608272 Swissprot Accession: Q99519; Q5JQI0;