|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
produces B-100 and B-48 isoforms
|
|
gptkbp:associatedWith
|
gptkb:familial_hypercholesterolemia
gptkb:abetalipoproteinemia
familial hypobetalipoproteinemia
|
|
gptkbp:clinicalTrialPhase
|
APOB blood test
|
|
gptkbp:component
|
gptkb:IDL
gptkb:chylomicrons
gptkb:VLDL
gptkb:LDL
|
|
gptkbp:discoveredBy
|
Michael Brown and Joseph Goldstein
|
|
gptkbp:encodes
|
apolipoprotein B protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000084674
338
|
|
gptkbp:expressedIn
|
liver
intestine
|
|
gptkbp:firstDescribed
|
1970s
|
|
gptkbp:foundIn
|
gptkb:plasma
|
|
gptkbp:fullName
|
Apolipoprotein B
|
|
gptkbp:function
|
lipid transport
structural component of lipoproteins
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasTranscriptVariant
|
APOB-100
APOB-48
|
|
gptkbp:HGNC_ID
|
603
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
APOB
|
|
gptkbp:length
|
2152 amino acids (B-48)
43 exons
4563 amino acids (B-100)
|
|
gptkbp:locatedOnChromosome
|
chromosome 2
|
|
gptkbp:locusType
|
2p24.1
|
|
gptkbp:molecularWeight
|
~240 kDa (B-48)
~550 kDa (B-100)
|
|
gptkbp:mutationAssociatedWith
|
gptkb:familial_defective_apolipoprotein_B-100
|
|
gptkbp:OMIM
|
107730
|
|
gptkbp:orthologInMouse
|
gptkb:Apob
|
|
gptkbp:pathway
|
lipoprotein metabolism
cholesterol transport
fatty acid metabolism
|
|
gptkbp:postTranslationalModification
|
phosphorylation
glycosylation
lipidation
|
|
gptkbp:product
|
gptkb:apolipoprotein_B-100
gptkb:apolipoprotein_B-48
|
|
gptkbp:proteinBinding
|
gptkb:LDL_receptor
|
|
gptkbp:regulates
|
regulated by microsomal triglyceride transfer protein (MTP)
|
|
gptkbp:relatedTo
|
gptkb:cardiovascular_disease
atherosclerosis
|
|
gptkbp:species
|
gptkb:Homo_sapiens
|
|
gptkbp:symbol
|
gptkb:APOB
|
|
gptkbp:target
|
antisense oligonucleotide therapy
mipomersen
|
|
gptkbp:UniProtID
|
gptkb:P04114
|
|
gptkbp:bfsParent
|
gptkb:ACMG_SF_v3.0
gptkb:Ldlr
gptkb:apolipoprotein_B
gptkb:human_chromosome_2
|
|
gptkbp:bfsLayer
|
8
|