|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:familial_hypercholesterolemia
gptkb:abetalipoproteinemia
gptkb:hypobetalipoproteinemia
|
|
gptkbp:discoveredBy
|
gptkb:Michael_S._Brown
gptkb:Joseph_L._Goldstein
|
|
gptkbp:encodes
|
gptkb:apolipoprotein_B
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000084674
338
|
|
gptkbp:expressedIn
|
liver
intestine
|
|
gptkbp:foundIn
|
gptkb:Homo_sapiens
|
|
gptkbp:fullName
|
gptkb:apolipoprotein_B_gene
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasPseudogene
|
gptkb:APOBP1
gptkb:APOBP10
gptkb:APOBP11
gptkb:APOBP12
gptkb:APOBP13
gptkb:APOBP14
gptkb:APOBP15
gptkb:APOBP16
gptkb:APOBP17
gptkb:APOBP19
gptkb:APOBP2
gptkb:APOBP20
gptkb:APOBP3
gptkb:APOBP4
gptkb:APOBP5
gptkb:APOBP6
gptkb:APOBP7
gptkb:APOBP8
gptkb:APOBP9
APOBP18
|
|
gptkbp:hasRefSeqID
|
gptkb:NM_000384
gptkb:NP_000375
|
|
gptkbp:HGNC_ID
|
603
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
APOB gene
|
|
gptkbp:involvedIn
|
lipid metabolism
cholesterol transport
|
|
gptkbp:locatedOnChromosome
|
chromosome 2
2p24.1
|
|
gptkbp:mutationAssociatedWith
|
gptkb:familial_defective_apolipoprotein_B-100
|
|
gptkbp:OMIM
|
107730
|
|
gptkbp:orthologInMouse
|
gptkb:Apob
|
|
gptkbp:producesProteinIsoform
|
gptkb:apolipoprotein_B-100
gptkb:apolipoprotein_B-48
|
|
gptkbp:regulates
|
plasma LDL levels
plasma VLDL levels
|
|
gptkbp:relatedTo
|
gptkb:LDL_receptor_pathway
chylomicron formation
|
|
gptkbp:UniProtID
|
gptkb:P04114
|
|
gptkbp:bfsParent
|
gptkb:familial_hypercholesterolemia
gptkb:apolipoprotein_B-48
|
|
gptkbp:bfsLayer
|
6
|