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FLASH GENE
Symbol LDLRAP1 contributors: mct - updated : 30-08-2013
HGNC name low density lipoprotein receptor adaptor protein 1
HGNC id 18640
Corresponding disease
ARH hypercholesterolemia, severe
Location 1p36.11      Physical location : 25.870.075 - 25.895.375
Synonym name
  • putative low density lipoprotein (LDL) receptor adaptor
  • autosomal recessive hypercholesterolemia protein
  • Synonym symbol(s) ARH2, FHCB1, FHCB2, MGC34705, LDLRA, ARH, ARH1
    DNA
    TYPE functioning gene
    STRUCTURE 25.00 kb     9 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map pter - D1S2864 - D1S2698 - D1S2734 - [D1S1152 - D1S234 - D1S1676 - D1S2885 ] - D1S2749 - D1S2787 - cen
    Authors Garcia (01)
    Text [LDLRAP1 ]
    RNA
    TRANSCRIPTS type messenger
    EXPRESSION
    Type
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   lowly
    Cardiovascularheart   lowly
    Digestiveintestinelarge intestinecolon lowly
     liver   highly
    Endocrinepancreas    
     placenta   highly
    Nervousbrain   lowly
    Reproductivemale systemprostate   
    Respiratorylung   lowly
    Urinarykidney   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Connective    
    Epithelialsecretoryglandularendocrine 
    Epithelialsecretoryglandularexocrine 
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
     digestive
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta highly
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    a phosphotyrosine binding (PTB/PID) domain
    HOMOLOGY
    interspecies homolog to Drosophila lnk
    ortholog to murine LdlrA/arh
    ortholog to xenopus arh
    Homologene
    FAMILY
    CATEGORY adaptor , transport
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • participating in the internalization of the LDL-LDLR complex, possibly enhancing the efficiency of the packaging into endocytic vesicles
  • required for the efficient activity of low density lipoprotein receptor (LDLR) in selected tissues
  • appears to have a tissue-specific role in LDLR function, as it is required in liver but not in fibroblasts
  • endocytic sorting adaptor that actively participates in the internalization of the LDL-LDLR complex, possibly enhancing the efficiency of its packaging into the endocytic vesicles
  • in addition to its role in endocytosis, cooperates with AP-1B in basolateral exocytosis of LDLR from recycling endosomes (REs)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS endocytosis transport , cellular trafficking transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to the consensus sequence of several cell-surface receptors
    RNA
    small molecule other,
    phosphoinositides
    protein
  • binding to the cytoplasmic tail of the LDL receptor (consensus sequence NPXY)
  • binding to soluble clathrin trimers and to the adapter protein complex 2 (AP-2, beta 2 subunit)
  • escorting megalin yo and throuh endosomes
  • KCNJ1 bound directly to the clathrin adaptor molecule autosomal recessive hypercholesterolemia (LDLRAP1) (LDLRAP1 marks KCNJ1 for clathrin-dependent endocytosis, in concert with the demands of potassium homeostasis)
  • LDLRAP1 colocalizes and cooperates with AP1B1 in recycling endosomes (REs)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARH
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS