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Description for Protein LRP5

low density lipoprotein receptor-related protein 5
7 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
This gene encodes a transmembrane low-density lipoprotein receptor that binds and internalizes ligands in the process of receptor-mediated endocytosis. This protein also acts as a co-receptor with Frizzled protein family members for transducing signals by Wnt proteins and was originally cloned on the basis of its association with type 1 diabetes mellitus in humans. This protein plays a key role in skeletal homeostasis and many bone density related diseases are caused by mutations in this gene. Mutations in this gene also cause familial exudative vitreoretinopathy. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • EGF: Epidermal growth factor-like domain.
  • LDLA: Low-density lipoprotein receptor domain class A
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K03068
    KEGG - Pathway(s):
    hsa04310
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Low density lipoprotein receptor related protein 7; LRP7; LR3
    Approved Symbol:
    LRP5
    (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:

  • Endosteal hyperostosis, autosomal dominant(Pd);
  • Exudative vitreoretinopathy 4, autosomal dominant(Pd);
  • Exudative vitreoretinopathy 4, autosomal recessive(Pd);
  • Exudative vitreoretinopathy 4, digenic(Pd);
  • High bone mass(Pd);
  • Osteopetrosis, autosomal dominant, type I(Pd);
  • Osteoporosis, susceptibility to(Pd);
  • Osteoporosis-pseudoglioma syndrome(Pd);
  • Osteosclerosis, autosomal dominant(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 2
    • Additional Identifiers:

    HPRD: 04616 Entrez Gene ID: 4041 OMIM ID: 603506 Swissprot Accession: O75197; Q9UES7;