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
Gene location (Human)
Chr.	Chromosome 19 (human)
End	11,133,820 bp
Gene location (Mouse)
Chr.	Chromosome 9 (mouse)
End	21,661,215 bp
RNA expression pattern
	Top expressed in
	lower lobe of lung; ; right adrenal gland; ; left adrenal gland; ; stromal cell of endometrium; ; upper lobe of lung; ; upper lobe of left lung; ; mucosa of urinary bladder; ; right lung; ; islet of Langerhans; ; left uterine tube;
	Top expressed in
	cumulus cell; ; sciatic nerve; ; ascending aorta; ; otic placode; ; islet of Langerhans; ; adrenal gland; ; left lobe of liver; ; iris; ; ankle joint; ; ciliary body;
	More reference expression data
	; ; ; ;
	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
	3949
	16835
	ENSG00000130164
	ENSMUSG00000032193
	P01130
	P35951
NM_000527; NM_001195798; NM_001195799; NM_001195800; NM_001195802;
	NM_001195803
	NM_001252658; NM_001252659; NM_010700
	NP_000518; NP_001182727; NP_001182728; NP_001182729; NP_001182732
	NP_001239587; NP_001239588; NP_034830
	Wikidata
View/Edit Human	View/Edit Mouse

The low-density lipoprotein receptor (LDL-R) is a mosaic protein of 839 amino acids (after removal of 21-amino acid signal peptide) 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. It belongs to the low density lipoprotein receptor gene family. It is most significantly expressed in bronchial epithelial cells and adrenal gland and cortex tissue.

Michael S. Brown and Joseph L. Goldstein were awarded the 1985 Nobel Prize in Physiology or Medicine for their identification of LDL-R and its relation to cholesterol metabolism and familial hypercholesterolemia. 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.

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