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Description for Protein SLC17A5

solute carrier family 17 (anion/sugar transporter), member 5
No Interacting Proteins
Icon Book Platelet Evidence (proteome studies/others : 1/0)
(membrane: 1)
Summary:
This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K12301
    KEGG - Pathway(s):
    hsa04142
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    SIALIN
    Approved Symbol:
    SLC17A5
    (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:

  • Infantile sialic acid storage disorder(Pd);
  • Salla disease(Pd)
    		• Predicted Transmembrane Domains:
    05058_1(10)
    Additional Identifiers:

    HPRD: 05058 Entrez Gene ID: 26503 OMIM ID: 604322 Swissprot Accession: Q9NRA2;