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Description for Protein LDLR

low density lipoprotein receptor
13 total interacting proteins; 9 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants. (PubMed Links)
Domains and Motifs:
  • SP: Signal Peptide
  • LDLA: Low-density lipoprotein receptor domain class A
  • EGF: Epidermal growth factor-like domain.
  • EGFCA: Calcium-binding EGF-like domain
  • EGFL: EGF domain, unclasssified subfamily
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K12473
    KEGG - Pathway(s):
    hsa04144
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    Ldl Receptor
    Approved Symbol:
    LDLR
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 6
    Human (de-) phosphorylation sites: 6; 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);
  • Porfimer(db)

    Associated Genetic Diseases:

  • FH Aarhus(Pd);
  • FH Afrikaner 1(Pd);
  • FH Afrikaner 2(Pd);
  • FH Afrikaner 3(Pd);
  • FH Afrikaner 4(Pd);
  • FH Bahrain(Pd);
  • FH Bari(Pd);
  • FH Bologna 2(Pd);
  • FH Cape Town 1(Pd);
  • FH Cape Town 2(Pd);
  • FH Druze(Pd);
  • FH Elverum(Pd);
  • FH French Canadian 1(Pd);
  • FH French Canadian 2(Pd);
  • FH French Canadian 4(Pd);
  • FH french canadian 5(Pd);
  • FH Glasco(Pd);
  • FH Iceland(Pd);
  • FH Lebanese(Pd);
  • FH Leiden 3(Pd);
  • FH London 1(Pd);
  • FH London 2(Pd);
  • FH London 4(Pd);
  • FH Mexico(Pd);
  • FH Naples(Pd);
  • FH North Karelia(Pd);
  • FH Osaka 2(Pd);
  • FH Osaka 3(Pd);
  • FH Paris 1(Pd);
  • FH Paris 3(Pd);
  • FH Pavia(Pd);
  • FH Piscataway(Pd);
  • FH Pori(Pd);
  • FH Portugal(Pd);
  • FH Potenza(Pd);
  • FH Puerto Rico(Pd);
  • FH Pyrgos(Pd);
  • FH Reykjavik(Pd);
  • Fh Rochester(Pd);
  • FH St. Louis(Pd);
  • FH Tonami 1(Pd);
  • FH Tsukuba 2(Pd);
  • FH Turku(Pd);
  • FH Vancouver 3(Pd);
  • FH Vancouver 4(Pd);
  • FH Vancouver 6(Pd);
  • FH Zambia(Pd);
  • Hypercholesterolemia, familial(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 1
    • Additional Identifiers:

    HPRD: 06091 Entrez Gene ID: 3949 OMIM ID: 606945 Swissprot Accession: Q59FQ1; P01130;