LDL Receptor

LDL Receptor

Identifiers Symbols LDLR; FH; FHC; LDLCQ2 External IDs OMIM: 606945 MGI: 96765 HomoloGene: 55469 ChEMBL: 3311 GeneCards: LDLR Gene

Gene Ontology
Molecular function	• glycoprotein binding • low-density lipoprotein receptor activity • calcium ion binding • protein binding • very-low-density lipoprotein particle receptor activity
Cellular component	• lysosome • early endosome • late endosome • Golgi apparatus • plasma membrane • integral to plasma membrane • coated pit • external side of plasma membrane • cell surface • endosome membrane • clathrin-coated endocytic vesicle membrane • low-density lipoprotein particle
Biological process	• lipid metabolic process • endocytosis • receptor-mediated endocytosis • cholesterol metabolic process • positive regulation of triglyceride biosynthetic process • regulation of phosphatidylcholine catabolic process • phospholipid transport • virus-host interaction • intestinal cholesterol absorption • cholesterol transport • low-density lipoprotein particle clearance • lipoprotein metabolic process • cholesterol homeostasis • small molecule metabolic process • cholesterol import
Sources: Amigo / QuickGO

RNA expression pattern More reference expression data Orthologs Species Human Mouse Entrez 3949 16835 Ensembl ENSG00000130164 ENSMUSG00000032193 UniProt P01130 P35951 RefSeq (mRNA) NM_000527.4 NM_001252658.1 RefSeq (protein) NP_000518.1 NP_001239587.1 Location (UCSC) Chr 19:
11.2 – 11.24 Mb Chr 9:
21.72 – 21.75 Mb PubMed search

The Low-Density Lipoprotein (LDL) Receptor is a mosaic protein of ~840 amino acids (after removal of signal peptide) that mediates the endocytosis of cholesterol-rich LDL. It is a cell-surface receptor that recognizes the apoprotein B100 which is embedded in the phospholipid outer layer of LDL particles. The receptor also recognizes the apoE protein found in chylomicron remnants and VLDL remnants (IDL). In humans, the LDL receptor protein is encoded by the LDLR gene. It belongs to the Low density lipoprotein receptor gene family.

Brown and Goldstein won a Nobel Prize for their identification of the Low Density Lipoprotein (LDL) receptor in 1985 while they were studying familial hypercholesterolemia.