LDL receptor

LDLR
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 1AJJ, 1D2J, 1F5Y, 1HJ7, 1HZ8, 1I0U, 1IJQ, 1LDL, 1LDR, 1N7D, 1XFE, 2FCW, 2KRI, 2LGP, 2W2M, 2W2N, 2W2O, 2W2P, 2W2Q, 3BPS, 3GCW, 3GCX, 3M0C, 3SO6, 2M7P, 2MG9, 3P5B, 3P5C, 4NE9
Identifiers
Aliases	LDLR, FH, FHC, LDLCQ2, low density lipoprotein receptor, FHCL1
External IDs	OMIM: 606945; MGI: 96765; HomoloGene: 55469; GeneCards: LDLR; OMA:LDLR - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19p13.2 Start 11,089,462 bp[1] End 11,133,820 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9 A3|9 7.87 cM Start 21,634,779 bp[2] End 21,661,215 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in lower lobe of lung right adrenal gland right adrenal cortex left adrenal gland olfactory zone of nasal mucosa left adrenal cortex stromal cell of endometrium upper lobe of lung upper lobe of left lung mucosa of urinary bladder Top expressed in cumulus cell sciatic nerve Ileal epithelium gastrula decidua ascending aorta endothelial cell of lymphatic vessel stroma of bone marrow otic placode islet of Langerhans More reference expression data BioGPS More reference expression data
Gene ontology Molecular function calcium ion binding clathrin heavy chain binding virus receptor activity protein binding protease binding identical protein binding very-low-density lipoprotein particle receptor activity low-density lipoprotein particle receptor activity low-density lipoprotein particle binding amyloid-beta binding Cellular component integral component of membrane clathrin-coated endocytic vesicle membrane endosome late endosome Golgi apparatus membrane receptor complex plasma membrane apical part of cell integral component of plasma membrane cell surface basolateral plasma membrane early endosome low-density lipoprotein particle clathrin-coated pit lysosome PCSK9-LDLR complex endosome membrane external side of plasma membrane extracellular space endolysosome membrane sorting endosome intracellular anatomical structure somatodendritic compartment Biological process positive regulation of triglyceride biosynthetic process regulation of phosphatidylcholine catabolic process steroid metabolic process lipid transport endocytosis lipid metabolism phospholipid transport cholesterol transport cholesterol metabolic process lipoprotein catabolic process intestinal cholesterol absorption transport viral entry into host cell cholesterol homeostasis viral process positive regulation of gene expression positive regulation of inflammatory response lipoprotein metabolic process cellular response to fatty acid negative regulation of gene expression membrane organization cholesterol import cellular response to low-density lipoprotein particle stimulus receptor-mediated endocytosis involved in cholesterol transport chylomicron remnant clearance low-density lipoprotein particle clearance receptor-mediated endocytosis phagocytosis long-term memory plasma lipoprotein particle clearance high-density lipoprotein particle clearance regulation of protein metabolic process negative regulation of protein metabolic process response to caloric restriction negative regulation of astrocyte activation regulation of cholesterol metabolic process amyloid-beta clearance amyloid-beta clearance by cellular catabolic process negative regulation of microglial cell activation positive regulation of lysosomal protein catabolic process negative regulation of amyloid fibril formation artery morphogenesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 3949 16835 Ensembl ENSG00000130164 ENSMUSG00000032193 UniProt P01130 P35951 RefSeq (mRNA) NM_000527 NM_001195798 NM_001195799 NM_001195800 NM_001195802 NM_001195803 NM_001252658 NM_001252659 NM_010700 RefSeq (protein) NP_000518 NP_001182727 NP_001182728 NP_001182729 NP_001182732 NP_001239587 NP_001239588 NP_034830 Location (UCSC) Chr 19: 11.09 – 11.13 Mb Chr 9: 21.63 – 21.66 Mb PubMed search [3] [4]
Wikidata
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The low-density lipoprotein receptor (LDL-R) is a mosaic protein of 839 amino acids (after removal of 21-amino acid signal peptide)^[5] that mediates the endocytosis of cholesterol-rich low-density lipoprotein (LDL). It is a cell-surface receptor that recognizes apolipoprotein B100 (ApoB100), which is embedded in the outer phospholipid layer of very low-density lipoprotein (VLDL), their remnants—i.e. intermediate-density lipoprotein (IDL), and LDL particles. The receptor also recognizes apolipoprotein E (ApoE) which is found in chylomicron remnants and IDL. In humans, the LDL receptor protein is encoded by the LDLR gene on chromosome 19.^[6][7][8] It belongs to the low density lipoprotein receptor gene family.^[9] It is most significantly expressed in bronchial epithelial cells and adrenal gland and cortex tissue.^[10]

Michael S. Brown and Joseph L. Goldstein were awarded the 1985 Nobel Prize in Physiology or Medicine for their identification of LDL-R^[11] and its relation to cholesterol metabolism and familial hypercholesterolemia.^[12] Disruption of LDL-R can lead to higher LDL-cholesterol as well as increasing the risk of related diseases. Individuals with disruptive mutations (defined as nonsense, splice site, or indel frameshift) in LDLR have an average LDL-cholesterol of 279 mg/dL, compared with 135 mg/dL for individuals with neither disruptive nor deleterious mutations. Disruptive mutations were 13 times more common in individuals with early-onset myocardial infarction or coronary artery disease than in individuals without either disease.^[13]