|
gptkbp:instanceOf
|
gptkb:protein
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:familial_hypercholesterolemia
atherosclerosis
coronary artery disease
|
|
gptkbp:biologicalProcess
|
cholesterol homeostasis
apolipoprotein binding
lipoprotein particle receptor activity
receptor-mediated endocytosis
|
|
gptkbp:cellularComponent
|
gptkb:endosome
gptkb:plasma_membrane
|
|
gptkbp:discoveredBy
|
gptkb:Michael_S._Brown
gptkb:Joseph_L._Goldstein
|
|
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
|
6540
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
LDL receptor
|
|
gptkbp:ligand
|
gptkb:apolipoprotein_B-100
gptkb:low-density_lipoprotein
gptkb:apolipoprotein_E
|
|
gptkbp:locatedOnChromosome
|
gptkb:19p13.2
|
|
gptkbp:molecularWeight
|
~160 kDa
|
|
gptkbp:mutationAssociatedWith
|
elevated plasma LDL cholesterol
increased risk of heart disease
|
|
gptkbp:OMIM
|
606945
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologIn
|
gptkb:mouse_LDL_receptor
|
|
gptkbp:pathway
|
cholesterol metabolism
lipoprotein metabolic process
|
|
gptkbp:PDB
|
gptkb:1N7D
|
|
gptkbp:postTranslationalModification
|
phosphorylation
glycosylation
|
|
gptkbp:RefSeq
|
NM_000527
|
|
gptkbp:regulates
|
regulated by intracellular cholesterol levels
|
|
gptkbp:relatedTo
|
gptkb:ApoB_receptor
gptkb:LRP1
gptkb:VLDL_receptor
|
|
gptkbp:structure
|
single-pass type I membrane protein
|
|
gptkbp:target
|
gptkb:PCSK9_inhibitors
statins
|
|
gptkbp:UniProtID
|
gptkb:P01130
|
|
gptkbp:bfsParent
|
gptkb:Michael_S._Brown
|
|
gptkbp:bfsLayer
|
5
|