Homo sapiens Gene: APOB
Summary
InnateDB Gene IDBG-32746.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol APOB
Gene Name apolipoprotein B (including Ag(x) antigen)
Synonyms FLDB; LDLCQ4;
Species Homo sapiens
Ensembl Gene ENSG00000084674
Encoded Proteins
apolipoprotein B (including Ag(x) antigen)
apolipoprotein B (including Ag(x) antigen)
apolipoprotein B
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008]
This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:21001429-21044073
Strand Reverse strand
Band p24.1
Transcripts
ENST00000233242 ENSP00000233242
ENST00000399256 ENSP00000382200
ENST00000616098 ENSP00000477990
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 39 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 39 [view]
Protein-Protein 37 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005319 lipid transporter activity
GO:0005488 binding
GO:0005515 protein binding
GO:0005543 phospholipid binding
GO:0008201 heparin binding
GO:0008289 lipid binding
GO:0017127 cholesterol transporter activity
GO:0035473 lipase binding
GO:0050750 low-density lipoprotein particle receptor binding
Biological Process
GO:0001523 retinoid metabolic process
GO:0001701 in utero embryonic development
GO:0006629 lipid metabolic process
GO:0006642 triglyceride mobilization
GO:0006869 lipid transport
GO:0006898 receptor-mediated endocytosis
GO:0007283 spermatogenesis
GO:0007399 nervous system development
GO:0007596 blood coagulation
GO:0007603 phototransduction, visible light
GO:0008203 cholesterol metabolic process
GO:0009566 fertilization
GO:0009615 response to virus
GO:0009743 response to carbohydrate
GO:0009791 post-embryonic development
GO:0010033 response to organic substance
GO:0010269 response to selenium ion
GO:0010744 positive regulation of macrophage derived foam cell differentiation
GO:0010884 positive regulation of lipid storage
GO:0010886 positive regulation of cholesterol storage
GO:0016042 lipid catabolic process
GO:0019433 triglyceride catabolic process
GO:0030301 cholesterol transport
GO:0030317 sperm motility
GO:0032496 response to lipopolysaccharide
GO:0033344 cholesterol efflux
GO:0034374 low-density lipoprotein particle remodeling
GO:0034379 very-low-density lipoprotein particle assembly
GO:0034383 low-density lipoprotein particle clearance
GO:0042157 lipoprotein metabolic process
GO:0042158 lipoprotein biosynthetic process
GO:0042159 lipoprotein catabolic process
GO:0042632 cholesterol homeostasis
GO:0042953 lipoprotein transport
GO:0044281 small molecule metabolic process
GO:0045540 regulation of cholesterol biosynthetic process
GO:0048844 artery morphogenesis
GO:0050900 leukocyte migration
GO:0071356 cellular response to tumor necrosis factor
GO:0071379 cellular response to prostaglandin stimulus
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005737 cytoplasm
GO:0005769 early endosome
GO:0005783 endoplasmic reticulum
GO:0005788 endoplasmic reticulum lumen
GO:0005789 endoplasmic reticulum membrane
GO:0005794 Golgi apparatus
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0010008 endosome membrane
GO:0012506 vesicle membrane
GO:0015629 actin cytoskeleton
GO:0030669 clathrin-coated endocytic vesicle membrane
GO:0031904 endosome lumen
GO:0031983 vesicle lumen
GO:0034359 mature chylomicron
GO:0034360 chylomicron remnant
GO:0034361 very-low-density lipoprotein particle
GO:0034362 low-density lipoprotein particle
GO:0034363 intermediate-density lipoprotein particle
GO:0042627 chylomicron
GO:0043231 intracellular membrane-bounded organelle
GO:0071682 endocytic vesicle lumen
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
Scavenging by Class H Receptors pathway
Metabolism of lipids and lipoproteins pathway
Scavenging by Class F Receptors pathway
Retinoid metabolism and transport pathway
Binding and Uptake of Ligands by Scavenger Receptors pathway
Signal Transduction pathway
Scavenging by Class A Receptors pathway
Orphan transporters pathway
Scavenging by Class B Receptors pathway
Diseases associated with visual transduction pathway
Platelet homeostasis pathway
Visual phototransduction pathway
Lipoprotein metabolism pathway
Metabolism pathway
Platelet sensitization by LDL pathway
Lipid digestion, mobilization, and transport pathway
Cell surface interactions at the vascular wall pathway
Disease pathway
Hemostasis pathway
Chylomicron-mediated lipid transport pathway
LDL-mediated lipid transport pathway
KEGG
Fat digestion and absorption pathway
INOH
PID BIOCARTA
PID NCI
FOXA1 transcription factor network
amb2 Integrin signaling
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.120759
RefSeq NM_000384
HUGO
OMIM
CCDS CCDS1703
HPRD 00133
IMGT
EMBL
GenPept
RNA Seq Atlas