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FLASH GENE
Symbol LRPAP1 contributors: mct - updated : 03-10-2013
HGNC name low density lipoprotein receptor-related protein associated protein 1
HGNC id 6701
Corresponding disease
MYP23 myopia 23
Location 4p16.3      Physical location : 3.514.289 - 3.534.224
Synonym name alpha-2-macroglobulin receptor-associated protein 1
Synonym symbol(s) A2MRAP, RAP, MRAP, A2RAP, HBP44
DNA
TYPE functioning gene
STRUCTURE 28.90 kb     8 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Map pter - D4S181 - D4S384 - D4S136 - D4S182 - SH3BP2 - D4S95 - HD - D4S127 - D4S131 - D4S180 - D4S125 - LRPAP1 - cen
Authors Jou (94)
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 10536 - 357 - 2003 14674767
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen   highly
Cardiovascularheart   highly
Endocrinepancreas   highly
 thyroid     Homo sapiens
Nervousbrain   highly
Reproductivemale systemprostate   
Respiratorylung   highly
Urinarykidney   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Lymphoid    
Muscularstriatumskeletal  
cells
SystemCellPubmedSpeciesStageRna symbol
Endocrinethyroid C cell Homo sapiensAdult
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
conjugated GlycoP
mono polymer heteromer , complex
HOMOLOGY
interspecies ortholog to murine Lrpap1
homolog to Drosophila CG8507
homolog to C.elegans C15C8.4
intraspecies homolog to low density lipoprotein receptor (LDLR) 1
homolog to Heymann nephritis antigen
Homologene
FAMILY LDLR family
CATEGORY chaperone/stress , receptor membrane
SUBCELLULAR LOCALIZATION extracellular
    plasma membrane
    intracellular
intracellular,cytoplasm,organelle,membrane
intracellular,cytoplasm,organelle,endoplasmic reticulum
intracellular,cytoplasm,cytosolic,vesicle
basic FUNCTION
  • preventing premature binding of ligands to receptors
  • enabling correct folding and export from the ER of alpha-2-macroglobulin receptor
  • affecting interactions between plasma membranes and basement membranes
  • acting as a LDL receptor
  • involved in vesicle-mediated transport
  • CELLULAR PROCESS cell life, proliferation/growth
    protein, post translation, folding
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • forming a complex with the alpha-2-macroglobulin receptor heavy and light chains
  • INTERACTION
    DNA
    RNA
    small molecule metal binding,
    calcium Ca2+
    protein
  • binding to heparin,alpha-2-macroglobulin receptor and glycoprotein 330
  • thought to act as a chaperone that binds and protects the lipoprotein receptor-related proteins LRP1 and LRP2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) MYP23
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    determines not only thyroid abnormalities, but also a severe defect of megalin expression and function in the kidney
    Susceptibility to gallbladder cancer (GBC)
    Variant & Polymorphism other
  • the 'D' allele may modulate the susceptibility of GBC, and the risk is independent to genetic risk of gallstone
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS