LDLR
Gene Information
- Official Symbol: LDLR
- Official Name: low density lipoprotein receptor
- Aliases and Previous Symbols: N/A
- Entrez ID: 3949
- UniProt: P01130
- Interactions: BioGRID
- PubMed articles: Open PubMed
- OMIM: Open OMIM
Function Summary
- Entrez Summary: 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. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010].
- UniProt Summary: N/A
Pfam Domains GO Terms
Pfam Domains
| EGF CA |
| Ldl recept b |
| Ldl recept a |
| cEGF |
GO Terms
| PCSK9-LDLR complex |
| negative regulation of astrocyte activation |
| response to caloric restriction |
| regulation of phosphatidylcholine catabolic process |
| receptor-mediated endocytosis involved in cholesterol transport |
| positive regulation of lysosomal protein catabolic process |
| regulation of astrocyte activation |
| very-low-density lipoprotein particle receptor activity |
| positive regulation of protein catabolic process in the vacuole |
| negative regulation of amyloid fibril formation |
| sterol import |
| sorting endosome |
| cholesterol import |
| regulation of phospholipid catabolic process |
| amyloid-beta clearance by cellular catabolic process |
| negative regulation of microglial cell activation |
| chylomicron remnant clearance |
| regulation of lysosomal protein catabolic process |
| triglyceride-rich lipoprotein particle clearance |
| regulation of amyloid fibril formation |
| clathrin heavy chain binding |
| intestinal cholesterol absorption |
| high-density lipoprotein particle clearance |
| regulation of protein catabolic process in the vacuole |
| intestinal lipid absorption |
| somatodendritic compartment |
| negative regulation of astrocyte differentiation |
| positive regulation of triglyceride biosynthetic process |
| low-density lipoprotein particle receptor activity |
| negative regulation of neuroinflammatory response |
| lipid digestion |
| endolysosome membrane |
| lipoprotein catabolic process |
| low-density lipoprotein particle |
| negative regulation of macrophage activation |
| intracellular cholesterol transport |
| low-density lipoprotein particle binding |
| regulation of microglial cell activation |
| regulation of triglyceride biosynthetic process |
| intracellular sterol transport |
| cellular response to low-density lipoprotein particle stimulus |
| positive regulation of triglyceride metabolic process |
| amyloid-beta clearance |
| low-density lipoprotein particle clearance |
| negative regulation of glial cell differentiation |
| response to lipoprotein particle |
| regulation of astrocyte differentiation |
| cellular response to lipoprotein particle stimulus |
| regulation of neuroinflammatory response |
| intestinal absorption |
| long-term memory |
| clathrin-coated endocytic vesicle membrane |
| regulation of triglyceride metabolic process |
| intracellular lipid transport |
| plasma lipoprotein particle clearance |
| negative regulation of gliogenesis |
| regulation of macrophage activation |
| clathrin-coated pit |
| cholesterol transport |
| regulation of lipid catabolic process |
| cellular response to fatty acid |
| regulation of cholesterol metabolic process |
| artery morphogenesis |
| sterol transport |
| regulation of glial cell differentiation |
| apical part of cell |
| regulation of plasma lipoprotein particle levels |
| digestive system process |
| virus receptor activity |
| cholesterol homeostasis |
| positive regulation of lipid biosynthetic process |
| sterol homeostasis |
| cell |
| amyloid-beta binding |
| response to fatty acid |
| regulation of phospholipid metabolic process |
| artery development |
| phospholipid transport |
| viral entry into host cell |
| entry into host cell |
| protease binding |
| entry into host |
| digestion |
| regulation of steroid metabolic process |
| regulation of gliogenesis |
| cholesterol metabolic process |
| memory |
| lipoprotein metabolic process |
| organophosphate ester transport |
| late endosome |
| secondary alcohol metabolic process |
| negative regulation of supramolecular fiber organization |
| lipid homeostasis |
| sterol metabolic process |
| negative regulation of inflammatory response |
| organic hydroxy compound transport |
| positive regulation of inflammatory response |
| positive regulation of cellular protein catabolic process |
| positive regulation of lipid metabolic process |
| interaction with host |
| negative regulation of leukocyte activation |
| regulation of lipid biosynthetic process |
| negative regulation of cell activation |
| basolateral plasma membrane |
| viral life cycle |
| receptor complex |
| negative regulation of defense response |
| cellular response to acid chemical |
| endosome membrane |
| positive regulation of protein catabolic process |
| receptor-mediated endocytosis |
| regulation of cellular protein catabolic process |
| lysosome |
| early endosome |
| learning or memory |
| steroid metabolic process |
| negative regulation of neurogenesis |
| lipid transport |
| cognition |
| negative regulation of nervous system development |
| alcohol metabolic process |
| lipid localization |
| phagocytosis |
| negative regulation of cell development |
| regulation of inflammatory response |
| response to acid chemical |
| regulation of supramolecular fiber organization |
| negative regulation of response to external stimulus |
| positive regulation of cellular catabolic process |
| regulation of protein catabolic process |
| external side of plasma membrane |
| regulation of lipid metabolic process |
| blood vessel morphogenesis |
| regulation of small molecule metabolic process |
| positive regulation of catabolic process |
| negative regulation of immune system process |
| organic hydroxy compound metabolic process |
| organic anion transport |
| positive regulation of defense response |
| blood vessel development |
| response to nutrient levels |
| vasculature development |
| cardiovascular system development |
| cellular response to lipid |
| response to extracellular stimulus |
| endocytosis |
| behavior |
| anion transport |
| positive regulation of response to external stimulus |
| regulation of leukocyte activation |
| cell surface |
| regulation of cell activation |
| tube morphogenesis |
| import into cell |
| protein catabolic process |
| viral process |
| negative regulation of cellular component organization |
| negative regulation of cell differentiation |
| calcium ion binding |
| regulation of defense response |
| symbiotic process |
| regulation of neurogenesis |
| interspecies interaction between organisms |
| regulation of cellular catabolic process |
| tube development |
| response to lipid |
| membrane organization |
| circulatory system development |
| regulation of nervous system development |
| regulation of cell development |
| negative regulation of developmental process |
| Golgi apparatus |
| regulation of catabolic process |
| response to organonitrogen compound |
| macromolecule catabolic process |
| cellular response to oxygen-containing compound |
| organonitrogen compound catabolic process |
| identical protein binding |
| response to nitrogen compound |
| regulation of response to external stimulus |
| negative regulation of protein metabolic process |
| chemical homeostasis |
| negative regulation of multicellular organismal process |
| lipid metabolic process |
| ion transport |
| nervous system process |
| integral component of plasma membrane |
| response to endogenous stimulus |
| regulation of response to stress |
| intracellular transport |
| generation of neurons |
| response to oxygen-containing compound |
| positive regulation of cellular protein metabolic process |
| negative regulation of response to stimulus |
| neurogenesis |
| homeostatic process |
| regulation of immune system process |
| positive regulation of protein metabolic process |
| negative regulation of gene expression |
| small molecule metabolic process |
| organic substance catabolic process |
| regulation of phosphate metabolic process |
| regulation of phosphorus metabolic process |
| cellular catabolic process |
| regulation of cell differentiation |
| establishment of localization in cell |
| vesicle-mediated transport |
| system process |
| positive regulation of cellular biosynthetic process |
| positive regulation of gene expression |
| membrane |
| positive regulation of biosynthetic process |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 1/739
| Tissue | Fraction Of Cell Lines Where Essential |
|---|---|
| 1290807.0 | 0/1 |
| 909776.0 | 0/1 |
| bile duct | 0/28 |
| blood | 1/28 |
| bone | 0/26 |
| breast | 0/33 |
| central nervous system | 0/56 |
| cervix | 0/4 |
| colorectal | 0/17 |
| esophagus | 0/13 |
| fibroblast | 0/1 |
| gastric | 0/16 |
| kidney | 0/21 |
| liver | 0/20 |
| lung | 0/75 |
| lymphocyte | 0/16 |
| ovary | 0/26 |
| pancreas | 0/24 |
| peripheral nervous system | 0/16 |
| plasma cell | 0/15 |
| prostate | 0/1 |
| skin | 0/24 |
| soft tissue | 0/9 |
| thyroid | 0/2 |
| upper aerodigestive | 0/22 |
| urinary tract | 0/29 |
| uterus | 0/5 |
Essentiality in NALM6
- Essentiality Rank: 2575
- Expression level (log2 read counts): 7.6
Expression Distribution
LDLR Expression in NALM6 Cells: 7.6
