|
gptkbp:instanceOf
|
gptkb:protein
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:familial_hypercholesterolemia
|
|
gptkbp:binds
|
gptkb:apolipoprotein_B-100
gptkb:apolipoprotein_E
|
|
gptkbp:component
|
gptkb:plasma_membrane
|
|
gptkbp:degradedBy
|
gptkb:PCSK9
|
|
gptkbp:discoveredBy
|
gptkb:Michael_S._Brown
gptkb:Joseph_L._Goldstein
|
|
gptkbp:domain
|
transmembrane domain
EGF-precursor homology domain
O-linked sugar domain
cytoplasmic domain
ligand-binding domain
|
|
gptkbp:encodedBy
|
gptkb:LDLR_gene
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000130164
|
|
gptkbp:expressedIn
|
gptkb:adrenal_gland
liver
peripheral tissues
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:function
|
mediates endocytosis of cholesterol-rich LDL
low-density lipoprotein particle receptor activity
|
|
gptkbp:GOProcess
|
cholesterol homeostasis
|
|
gptkbp:HGNC_ID
|
6540
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
human LDL receptor
|
|
gptkbp:length
|
860 amino acids
|
|
gptkbp:ligand
|
gptkb:low-density_lipoprotein
gptkb:intermediate-density_lipoprotein
gptkb:very_low-density_lipoprotein
|
|
gptkbp:locatedIn
|
gptkb:cell_membrane
|
|
gptkbp:molecularWeight
|
~95 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:familial_hypercholesterolemia
|
|
gptkbp:OMIM
|
606945
|
|
gptkbp:orthologIn
|
gptkb:mouse_LDL_receptor
rat LDL receptor
|
|
gptkbp:PDB
|
gptkb:1N7D
|
|
gptkbp:postTranslationalModification
|
gptkb:N-glycosylation
O-glycosylation
|
|
gptkbp:recyclesVia
|
gptkb:endosome
|
|
gptkbp:RefSeq
|
NM_000527
|
|
gptkbp:regulates
|
intracellular cholesterol levels
|
|
gptkbp:reviewedBy
|
gptkb:UniProtKB/Swiss-Prot
|
|
gptkbp:significance
|
gptkb:cardiovascular_disease
atherosclerosis
coronary artery disease
|
|
gptkbp:target
|
gptkb:PCSK9_inhibitors
statins
|
|
gptkbp:UniProtID
|
gptkb:P01130
|
|
gptkbp:bfsParent
|
gptkb:LDL_receptor_class_A_domain
gptkb:mouse_LDL_receptor
|
|
gptkbp:bfsLayer
|
7
|