LDLR

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. [provided by RefSeq]

LDLR

Binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits.
(Microbial infection) Acts as a receptor for hepatitis C virus in hepatocytes, but not through a direct interaction with viral proteins.
(Microbial infection) Acts as a receptor for Vesicular stomatitis virus.
(Microbial infection) In case of HIV-1 infection, may function as a receptor for extracellular Tat in neurons, mediating its internalization in uninfected cells.

Amyloid-beta clearanceISS:ARUK-UCL
Amyloid-beta clearance by cellular catabolic processISS:ARUK-UCL
Artery morphogenesisIEA:Ensembl
Cellular response to fatty acidIEA:Ensembl
Cellular response to low-density lipoprotein particle stimulusManual Assertion Based On ExperimentIMP:BHF-UCL
Cholesterol homeostasisManual Assertion Based On ExperimentIMP:BHF-UCL
Cholesterol importManual Assertion Based On ExperimentIMP:BHF-UCL
Cholesterol metabolic processIEA:UniProtKB-KW
Cholesterol transportManual Assertion Based On ExperimentIMP:HGNC-UCL
EndocytosisManual Assertion Based On ExperimentTAS:ProtInc
High-density lipoprotein particle clearanceIEA:Ensembl
Intestinal cholesterol absorptionManual Assertion Based On ExperimentIMP:HGNC-UCL
Lipid metabolic processManual Assertion Based On ExperimentTAS:ProtInc
Lipoprotein catabolic processIEA:Ensembl
Long-term memoryManual Assertion Based On ExperimentIGI:ARUK-UCL
Low-density lipoprotein particle clearanceManual Assertion Based On ExperimentIMP:BHF-UCL
Negative regulation of amyloid fibril formationISS:ARUK-UCL
Negative regulation of astrocyte activationISS:ARUK-UCL
Negative regulation of gene expressionIEA:Ensembl
Negative regulation of low-density lipoprotein particle clearanceManual Assertion Based On ExperimentIDA:ComplexPortal
Negative regulation of microglial cell activationISS:ARUK-UCL
Negative regulation of protein metabolic processISS:ARUK-UCL
Negative regulation of receptor recyclingManual Assertion Based On ExperimentIDA:ComplexPortal
PhagocytosisISS:ARUK-UCL
Phospholipid transportISS:BHF-UCL
Plasma lipoprotein particle clearanceISS:ARUK-UCL
Positive regulation of gene expressionIEA:Ensembl
Positive regulation of inflammatory responseIEA:Ensembl
Positive regulation of lysosomal protein catabolic processISS:ARUK-UCL
Positive regulation of triglyceride biosynthetic processISS:BHF-UCL
Receptor-mediated endocytosisISS:ARUK-UCL
Receptor-mediated endocytosis involved in cholesterol transportManual Assertion Based On ExperimentIMP:BHF-UCL
Regulation of cholesterol metabolic processIEA:Ensembl
Regulation of phosphatidylcholine catabolic processISS:BHF-UCL
Regulation of protein metabolic processManual Assertion Based On ExperimentIGI:ARUK-UCL
Response to caloric restrictionManual Assertion Based On ExperimentIGI:ARUK-UCL

Cell membrane
Membrane, clathrin-coated pit
Golgi apparatus
Early endosome
Late endosome
Lysosome
Rapidly endocytosed upon ligand binding.

Hypercholesterolemia, familial, 1 (FHCL1):
A form of hypercholesterolemia, a disorder of lipoprotein metabolism characterized by elevated serum low-density lipoprotein (LDL) cholesterol levels, which result in excess deposition of cholesterol in tissues and leads to xanthelasma, xanthomas, accelerated atherosclerosis and increased risk of premature coronary heart disease. FHCL1 inheritance is autosomal dominant.

Extracellular: 22-788
Helical: 789-810
Cytoplasmic: 811-860

N- and O-glycosylated.
Ubiquitinated by MYLIP leading to degradation.