low density lipoprotein receptor

URI: https://gptkb.org/entity/low_density_lipoprotein_receptor
GPTKB entity
Statements (54)
Predicate Object
gptkbp:instanceOf gptkb:protein
gptkb:gene
gptkbp:alias gptkb:LDL_receptor
gptkb:LDLR
gptkb:FH
gptkbp:alternativeSplicing yes
gptkbp:associatedWith gptkb:familial_hypercholesterolemia
atherosclerosis
coronary artery disease
gptkbp:biologicalProcess cholesterol homeostasis
lipid transport
receptor-mediated endocytosis
gptkbp:cellularComponent gptkb:plasma_membrane
gptkbp:discoveredBy gptkb:Michael_S._Brown
gptkb:Joseph_L._Goldstein
gptkbp:EC_number not applicable
gptkbp:encodedBy gptkb:LDLR_gene
gptkbp:Entrez_Gene_ID gptkb:ENSG00000130164
gptkbp:expressedIn gptkb:adrenal_gland
liver
peripheral tissues
gptkbp:foundIn gptkb:cell_membrane
gptkbp:function mediates endocytosis of cholesterol-rich LDL
gptkbp:GO_term gptkb:GO:0005041
gptkbp:HGNC_ID 6547
https://www.w3.org/2000/01/rdf-schema#label low density lipoprotein receptor
gptkbp:length 860 amino acids
gptkbp:ligand gptkb:apolipoprotein_B-100
gptkb:apolipoprotein_E
gptkbp:locatedOnChromosome gptkb:19p13.2
gptkbp:molecularWeight ~120 kDa
gptkbp:mutationAssociatedWith premature cardiovascular disease
elevated plasma LDL
gptkbp:NobelPrizeYear 1985 Nobel Prize in Physiology or Medicine
gptkbp:numberOfExons 18
gptkbp:OMIM 606945
gptkbp:organism gptkb:Homo_sapiens
gptkbp:orthologIn gptkb:Gallus_gallus
gptkb:Mus_musculus
gptkb:Rattus_norvegicus
gptkbp:PDB gptkb:1N7D
gptkbp:postTranslationalModification phosphorylation
glycosylation
gptkbp:proteinFamily gptkb:LDL_receptor_family
gptkbp:RefSeq NP_000518.1
gptkbp:reviewedBy gptkb:GeneReviews
gptkb:OMIM
gptkb:UniProt
gptkbp:structure type I transmembrane protein
gptkbp:UniProtID gptkb:P01130
gptkbp:bfsParent gptkb:Ldlr
gptkb:Ldlr_gene_(mouse)
gptkb:low_density_lipoprotein_receptor_gene
gptkbp:bfsLayer 8