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Description for Protein FUCA1

fucosidase, alpha-L- 1, tissue
2 total interacting proteins; 2 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 involved in the degradation of fucose-containing glycoproteins and glycolipids. Mutations in this gene are associated with fucosidosis (FUCA1D), which is an autosomal recessive lysosomal storage disease. A pseudogene of this locus is present on chr 2. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.2.1.51
    KEGG - Orthology:
    K01206
    KEGG - Pathway(s):
    hsa00511; hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Fucosidase, alpha-L, 1; Alpha-L-fucosidase; Fucosidase, alpha-L; FUCA
    Approved Symbol:
    FUCA1
    (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):

    None Available

    Associated Genetic Diseases:

  • Fu1/Fu2 polymorphism(Pd);
  • Fucosidosis(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 01974 Entrez Gene ID: 2517 OMIM ID: 612280 Swissprot Accession: P04066;