|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:LDL_receptor
gptkb:LDL-R
gptkb:FH
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:familial_hypercholesterolemia
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for familial hypercholesterolemia
|
|
gptkbp:discoveredBy
|
gptkb:Michael_S._Brown
gptkb:Joseph_L._Goldstein
|
|
gptkbp:encodes
|
gptkb:LDL_receptor_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000130164
3949
|
|
gptkbp:expressedIn
|
gptkb:adrenal_gland
liver
peripheral tissues
|
|
gptkbp:fullName
|
gptkb:low-density_lipoprotein_receptor
|
|
gptkbp:function
|
mediates endocytosis of cholesterol-rich LDL
low-density lipoprotein particle receptor activity
|
|
gptkbp:GOProcess
|
cholesterol homeostasis
receptor-mediated endocytosis
|
|
gptkbp:HGNC_ID
|
6547
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
LDLR
|
|
gptkbp:inheritance
|
autosomal dominant
|
|
gptkbp:length
|
860 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:19p13.2
19
|
|
gptkbp:location
|
gptkb:endosome
gptkb:clathrin-coated_pit
gptkb:plasma_membrane
|
|
gptkbp:mutationAssociatedWith
|
elevated plasma cholesterol
|
|
gptkbp:NucleotideRefSeq
|
NM_000527
|
|
gptkbp:numberOfExons
|
18
|
|
gptkbp:OMIM
|
606945
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Ldlr
|
|
gptkbp:pathway
|
cholesterol metabolism
lipoprotein metabolism
|
|
gptkbp:PDB
|
gptkb:1N7D
gptkb:1AJJ
|
|
gptkbp:product
|
transmembrane glycoprotein
|
|
gptkbp:proteinFamily
|
transmembrane domain
EGF-precursor homology domain
O-linked sugar domain
cytoplasmic domain
ligand-binding domain
|
|
gptkbp:ProteinRefSeq
|
gptkb:NP_000518
|
|
gptkbp:regulates
|
regulated by SREBP
regulated by cholesterol levels
|
|
gptkbp:UniProtID
|
gptkb:P01130
|
|
gptkbp:bfsParent
|
gptkb:chromosome_19
|
|
gptkbp:bfsLayer
|
6
|