LDLR
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| low density lipoprotein receptor | MIM:606945 | Ensembl:ENSG00000130164 | HGNC:HGNC:6547 | PA227 | 19p13.2 |
GO terms in LDLR
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0001540 | amyloid-beta binding |
| MF | IEA | GO:0001618 | virus receptor activity |
| MF | IPI | GO:0002020 | protease binding |
| MF | IC | GO:0005041 | low-density lipoprotein particle receptor activity |
| MF | IDA | GO:0005041 | low-density lipoprotein particle receptor activity |
| MF | IMP | GO:0005041 | low-density lipoprotein particle receptor activity |
| MF | TAS | GO:0005041 | low-density lipoprotein particle receptor activity |
| MF | IEA | GO:0005509 | calcium ion binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IMP | GO:0030169 | low-density lipoprotein particle binding |
| MF | IDA | GO:0030229 | very-low-density lipoprotein particle receptor activity |
| MF | TAS | GO:0032050 | clathrin heavy chain binding |
| MF | IPI | GO:0042802 | identical protein binding |
| CC | ISS | GO:0005622 | intracellular |
| CC | IDA | GO:0005764 | lysosome |
| CC | IDA | GO:0005769 | early endosome |
| CC | IDA | GO:0005770 | late endosome |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0005905 | clathrin-coated pit |
| CC | IDA | GO:0009897 | external side of plasma membrane |
| CC | IDA | GO:0009986 | cell surface |
| CC | ISS | GO:0009986 | cell surface |
| CC | TAS | GO:0010008 | endosome membrane |
| CC | HDA | GO:0016020 | membrane |
| CC | ISS | GO:0016323 | basolateral plasma membrane |
| CC | TAS | GO:0030669 | clathrin-coated endocytic vesicle membrane |
| CC | IEA | GO:0034362 | low-density lipoprotein particle |
| CC | TAS | GO:0036020 | endolysosome membrane |
| CC | IEA | GO:0036477 | somatodendritic compartment |
| CC | IDA | GO:0043235 | receptor complex |
| CC | ISS | GO:0045177 | apical part of cell |
| CC | IEA | GO:0097443 | sorting endosome |
| CC | IDA | GO:1990666 | PCSK9-LDLR complex |
| BP | TAS | GO:0006629 | lipid metabolic process |
| BP | TAS | GO:0006897 | endocytosis |
| BP | ISS | GO:0006898 | receptor-mediated endocytosis |
| BP | IGI | GO:0007616 | long-term memory |
| BP | IEA | GO:0008203 | cholesterol metabolic process |
| BP | IEA | GO:0010628 | positive regulation of gene expression |
| BP | IEA | GO:0010629 | negative regulation of gene expression |
| BP | ISS | GO:0010867 | positive regulation of triglyceride biosynthetic process |
| BP | ISS | GO:0010899 | regulation of phosphatidylcholine catabolic process |
| BP | ISS | GO:0010986 | positive regulation of lipoprotein particle clearance |
| BP | ISS | GO:0015914 | phospholipid transport |
| BP | IMP | GO:0030299 | intestinal cholesterol absorption |
| BP | IMP | GO:0030301 | cholesterol transport |
| BP | TAS | GO:0030301 | cholesterol transport |
| BP | TAS | GO:0034381 | plasma lipoprotein particle clearance |
| BP | TAS | GO:0034382 | chylomicron remnant clearance |
| BP | IMP | GO:0034383 | low-density lipoprotein particle clearance |
| BP | TAS | GO:0034383 | low-density lipoprotein particle clearance |
| BP | IEA | GO:0042159 | lipoprotein catabolic process |
| BP | IGI | GO:0042632 | cholesterol homeostasis |
| BP | IMP | GO:0042632 | cholesterol homeostasis |
| BP | TAS | GO:0042632 | cholesterol homeostasis |
| BP | ISS | GO:0045807 | positive regulation of endocytosis |
| BP | IEA | GO:0046718 | viral entry into host cell |
| BP | IEA | GO:0050729 | positive regulation of inflammatory response |
| BP | IGI | GO:0051246 | regulation of protein metabolic process |
| BP | ISS | GO:0051248 | negative regulation of protein metabolic process |
| BP | TAS | GO:0061024 | membrane organization |
| BP | IGI | GO:0061771 | response to caloric restriction |
| BP | ISS | GO:0061889 | negative regulation of astrocyte activation |
| BP | IMP | GO:0070508 | cholesterol import |
| BP | ISS | GO:0070508 | cholesterol import |
| BP | IEA | GO:0071398 | cellular response to fatty acid |
| BP | IMP | GO:0071404 | cellular response to low-density lipoprotein particle stimulus |
| BP | IMP | GO:0090118 | receptor-mediated endocytosis involved in cholesterol transport |
| BP | IEA | GO:0090181 | regulation of cholesterol metabolic process |
| BP | ISS | GO:0097242 | amyloid-beta clearance |
| BP | ISS | GO:1900223 | positive regulation of amyloid-beta clearance |
| BP | ISS | GO:1903979 | negative regulation of microglial cell activation |
| BP | ISS | GO:1905167 | positive regulation of lysosomal protein catabolic process |
| BP | ISS | GO:1905907 | negative regulation of amyloid fibril formation |
Gene expression in normal tissue: LDLR
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in LDLR
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-174824 | Plasma lipoprotein assembly, remodeling, and clearance |
| reactome | R-HSA-174824 | Plasma lipoprotein assembly, remodeling, and clearance |
| reactome | R-HSA-196854 | Metabolism of vitamins and cofactors |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-2187338 | Visual phototransduction |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-382551 | Transport of small molecules |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-418594 | G alpha (i) signalling events |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-6806667 | Metabolism of fat-soluble vitamins |
| reactome | R-HSA-8856825 | Cargo recognition for clathrin-mediated endocytosis |
| reactome | R-HSA-8856828 | Clathrin-mediated endocytosis |
| reactome | R-HSA-8964026 | Chylomicron clearance |
| reactome | R-HSA-8964026 | Chylomicron clearance |
| reactome | R-HSA-8964038 | LDL clearance |
| reactome | R-HSA-8964043 | Plasma lipoprotein clearance |
| reactome | R-HSA-8964043 | Plasma lipoprotein clearance |
| reactome | R-HSA-975634 | Retinoid metabolism and transport |
| biocarta | s1ppathway | srebp control of lipid synthesis |
| kegg | hsa04144 | Endocytosis - Homo sapiens (human) |
| kegg | hsa04913 | Ovarian steroidogenesis - Homo sapiens (human) |
| kegg | hsa04925 | Aldosterone synthesis and secretion - Homo sapiens (human) |
| kegg | hsa04927 | Cortisol synthesis and secretion - Homo sapiens (human) |
| kegg | hsa04934 | Cushing,s syndrome - Homo sapiens (human) |
| kegg | hsa04976 | Bile secretion - Homo sapiens (human) |
| kegg | hsa04979 | Cholesterol metabolism - Homo sapiens (human) |
| kegg | hsa05145 | Toxoplasmosis - Homo sapiens (human) |
| kegg | hsa05160 | Hepatitis C - Homo sapiens (human) |
| pharmgkb | PA2031 | Statin Pathway, Pharmacodynamics |
| netpath | Pathway_EGFR1 | EGFR1 |
| wikipathways | WP15 | Selenium Micronutrient Network |
| wikipathways | WP1533 | Vitamin B12 Metabolism |
| wikipathways | WP176 | Folate Metabolism |
| wikipathways | WP1982 | Sterol Regulatory Element-Binding Proteins (SREBP) signalling |
| wikipathways | WP2011 | SREBF and miR33 in cholesterol and lipid homeostasis |
| wikipathways | WP2374 | Oncostatin M Signaling Pathway |
| wikipathways | WP2846 | Proprotein convertase subtilisin-kexin type 9 (PCSK9) mediated LDL receptor degradation |
| wikipathways | WP3408 | Evolocumab Mechanism |
| wikipathways | WP3601 | Composition of Lipid Particles |
| wikipathways | WP399 | Wnt Signaling Pathway and Pluripotency |
| wikipathways | WP4010 | Liver steatosis AOP |
| wikipathways | WP430 | Statin Pathway |
| wikipathways | WP710 | DNA Damage Response (only ATM dependent) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD512 | nutlin 3 | 1 |
| iGMDRD523 | Cyanoquinoline, 11 | 3 |
| iGMDRD405 | PIK-75 | 2 |
| iGMDRD341 | Triacsin c | 8 |
| iGMDRD351 | GW843682X | 1 |
| iGMDRD57 | Chloropentafluorobenzene | 2 |
| iGMDRD314 | Tanespimycin | 3 |
| iGMDRD901 | ELCPK | 2 |
| iGMDRD177 | Teniposide | 2 |
| iGMDRD154 | NSC23766 | 5 |
| iGMDRD271 | Brefeldin A | 2 |
| iGMDRD158 | NSC141540 | 4 |
| iGMDRD137 | Indisulam | 5 |
| iGMDRD434 | BMS-536924 | 2 |
| iGMDRD414 | MST-312 | 2 |
| iGMDRD329 | Merck60 | 8 |
| iGMDRD300 | Tozasertib | 3 |
| iGMDRD353 | PD0325901 | 1 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD151 | CHM-1 | 2 |
| iGMDRD387 | CHIR-99021 | 3 |
| iGMDRD427 | ABT737 | 1 |
| iGMDRD484 | Pluripotin | 2 |
| iGMDRD781 | Sirolimus | 8 |
| iGMDRD193 | Fqi1 | 2 |
| iGMDRD61 | Kinetin riboside | 4 |
| iGMDRD280 | CYTOCHALASIN B | 6 |
| iGMDRD375 | GW-405833 | 2 |
| iGMDRD270 | Ciclosporin | 2 |
| iGMDRD802 | 4-methylfasudil | 4 |
| iGMDRD255 | SB225002 | 3 |
| iGMDRD801 | 2,4-dideoxy-DC-45-A2 | 2 |
| iGMDRD187 | BRD9876 | 1 |
| iGMDRD870 | BRD63610 | 3 |
| iGMDRD294 | Batimastat | 2 |
| iGMDRD100 | Zebularine | 3 |
| iGMDRD74 | Idarubicin | 3 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD887 | Compound 23 citrate | 2 |
| iGMDRD506 | Fedratinib | 1 |
| iGMDRD780 | PP-30 | 1 |
| iGMDRD398 | Sepantronium | 3 |
| iGMDRD562 | Navitoclax | 1 |
| iGMDRD64 | Parbendazole | 1 |
| iGMDRD451 | Serdemetan | 4 |
| iGMDRD524 | ISX-9 | 2 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in LDLR
CLASSFICATION
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Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.