low-density lipoprotein receptor (LDLR)

URI: https://gptkb.org/entity/low-density_lipoprotein_receptor_(LDLR)
GPTKB entity
Statements (34)
Predicate Object
gptkbp:instanceOf gptkb:protein
gptkb:gene
gptkbp:alias gptkb:LDL_receptor
gptkb:LDLR
gptkbp:associatedWith gptkb:familial_hypercholesterolemia
gptkbp:biologicalProcess cholesterol homeostasis
lipid transport
lipoprotein particle receptor activity
gptkbp:cellularComponent 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:externalLink https://www.ncbi.nlm.nih.gov/gene/3949
https://www.uniprot.org/uniprot/P01130
gptkbp:foundIn gptkb:Homo_sapiens
gptkbp:function mediates endocytosis of cholesterol-rich LDL
gptkbp:HGNC_ID 6547
https://www.w3.org/2000/01/rdf-schema#label low-density lipoprotein receptor (LDLR)
gptkbp:length 860
gptkbp:locatedOnChromosome gptkb:chromosome_19
gptkbp:mutationAssociatedWith gptkb:familial_hypercholesterolemia
gptkbp:NucleotideRefSeq NM_000527
gptkbp:OMIM 606945
gptkbp:PDB gptkb:1N7D
gptkbp:postTranslationalModification phosphorylation
glycosylation
gptkbp:ProteinRefSeq gptkb:NP_000518
gptkbp:UniProtID gptkb:P01130
gptkbp:bfsParent gptkb:CR1_domain
gptkbp:bfsLayer 6