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Description for Protein LDLRAP1

low density lipoprotein receptor adaptor protein 1
6 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 3/0)
(membrane: 1; platelet: 1; secretome: 1)
Summary:
The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
  • PTB: Phosphotyrosine-binding domain, phosphotyrosine-interaction (PI) domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    None Available
    KEGG - Orthology:
    K12474
    KEGG - Pathway(s):
    hsa04144
    (The yellow boxes represents platelet proteins)
    Nomenclature / Alternative Names:
    ARH; ARH2; FHCB1; FHCB2; MGC34705; DKFZp586D0624; low density lipoprotein receptor adaptor protein 1
    Approved Symbol:
    LDLRAP1
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 2
    Human (de-) phosphorylation sites: 2; 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:

  • Hypercholesterolemia, autosomal recessive(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 05765 Entrez Gene ID: 26119 OMIM ID: 605747 Swissprot Accession: Q5SW96; B3KR97;