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 |
|---|---|---|---|---|---|
OMIM IDMIM:606945 Ensembl IDEnsembl:ENSG00000130164 HGNC IDHGNC:HGNC:6547 PHARMGKB IDPA227 Map Location19p13.2 | |||||
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 |
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 |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in LDLR
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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