|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:LDL_receptor
Ldlr-1
Ldlr1
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:familial_hypercholesterolemia
|
|
gptkbp:biologicalProcess
|
cholesterol homeostasis
low-density lipoprotein receptor activity
|
|
gptkbp:cellularComponent
|
gptkb:plasma_membrane
|
|
gptkbp:disruption
|
leads to hypercholesterolemia in mice
|
|
gptkbp:Entrez_Gene_ID
|
16835
ENSMUSG00000026046
|
|
gptkbp:expressedIn
|
gptkb:adrenal_gland
brain
liver
|
|
gptkbp:fullName
|
gptkb:low_density_lipoprotein_receptor
|
|
gptkbp:function
|
mediates endocytosis of cholesterol-rich LDL
|
|
gptkbp:gene
|
gptkb:Ldlr
|
|
gptkbp:geneType
|
protein-coding
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Ldlr (Mus musculus)
|
|
gptkbp:length
|
860 amino acids
|
|
gptkbp:locatedOnChromosome
|
9
|
|
gptkbp:location
|
9 F2
|
|
gptkbp:MGI_ID
|
MGI:96760
|
|
gptkbp:mouseModel
|
Ldlr knockout mouse
|
|
gptkbp:mutationAssociatedWith
|
atherosclerosis susceptibility
increased plasma cholesterol
|
|
gptkbp:OMIM_ID_(human_ortholog)
|
606945
|
|
gptkbp:organism
|
gptkb:Mus_musculus
|
|
gptkbp:orthologIn
|
LDLR (Homo sapiens)
LDLR (Rattus norvegicus)
|
|
gptkbp:pathway
|
lipid metabolism
cholesterol transport
|
|
gptkbp:product
|
gptkb:Low-density_lipoprotein_receptor
|
|
gptkbp:proteinFamily
|
transmembrane domain
EGF-like domain
cytoplasmic tail
LDL-receptor class A repeat
|
|
gptkbp:RefSeq
|
NM_010700
NP_034830
|
|
gptkbp:regulates
|
regulated by SREBP
regulated by dietary cholesterol
|
|
gptkbp:studiedBy
|
model for atherosclerosis
model for hypercholesterolemia
|
|
gptkbp:transmembraneDomains
|
yes
|
|
gptkbp:UniProtID
|
gptkb:P35951
|
|
gptkbp:bfsParent
|
gptkb:Ldlr
|
|
gptkbp:bfsLayer
|
8
|