|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:VLDL_receptor
gptkb:VLDLR
gptkb:VLDL-R
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:VLDLR-associated_cerebellar_hypoplasia
quadrupedal locomotion
mental retardation
cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:discoveredBy
|
Yamada et al.
|
|
gptkbp:discoveredIn
|
1993
|
|
gptkbp:encodes
|
gptkb:very_low-density_lipoprotein_receptor
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000147852
7436
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
heart
adipose tissue
|
|
gptkbp:function
|
lipid metabolism
receptor-mediated endocytosis of VLDL
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
12698
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
VLDLR gene
|
|
gptkbp:interactsWith
|
gptkb:ApoE
gptkb:Reelin
ApoE receptor 2
|
|
gptkbp:length
|
873 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_9
gptkb:9p24.2
|
|
gptkbp:molecularWeight
|
96 kDa
|
|
gptkbp:mutationAssociatedWith
|
gptkb:cerebellar_hypoplasia
intellectual disability
|
|
gptkbp:OMIM
|
192977
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Vldlr
|
|
gptkbp:pathway
|
gptkb:Reelin_signaling_pathway
lipid transport
|
|
gptkbp:product
|
gptkb:VLDLR_protein
|
|
gptkbp:proteinFamily
|
gptkb:low-density_lipoprotein_receptor_family
|
|
gptkbp:RefSeq
|
NM_003383
|
|
gptkbp:regulates
|
regulated by SREBP
regulated by PPARĪ³
|
|
gptkbp:subcellularLocation
|
gptkb:endosome
gptkb:cell_membrane
|
|
gptkbp:UniProtID
|
P98155
|
|
gptkbp:bfsParent
|
gptkb:VLDL_receptor
|
|
gptkbp:bfsLayer
|
7
|