InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: APOB

Summary

InnateDB Protein

IDBP-32748.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

APOB

Protein Name

apolipoprotein B (including Ag(x) antigen)

Synonyms

FLDB; LDLCQ4;

Species

Homo sapiens

Ensembl Protein

ENSP00000233242

InnateDB Gene

IDBG-32746 (APOB)

Protein Structure

UniProt Annotation

Function

Apolipoprotein B is a major protein constituent of chylomicrons (apo B-48), LDL (apo B-100) and VLDL (apo B-100). Apo B-100 functions as a recognition signal for the cellular binding and internalization of LDL particles by the apoB/E receptor.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:22580899}. Secreted {ECO:0000269PubMed:22580899}.

Disease Associations

Hypobetalipoproteinemia, familial, 1 (FHBL1) [MIM:615558]: A disorder of lipid metabolism characterized by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia. {ECO:0000269PubMed:12551903, ECO:0000269PubMed:21981844}. Note=The disease is caused by mutations affecting the gene represented in this entry. Most cases of FHBL1 result from nonsense mutations in the APOB gene that lead to a premature stop codon, which generate prematurely truncated apo B protein products (PubMed:21981844). {ECO:0000269PubMed:21981844}.Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]: Dominantly inherited disorder of lipoprotein metabolism leading to hypercholesterolemia and increased proneness to coronary artery disease (CAD). The plasma cholesterol levels are dramatically elevated due to impaired clearance of LDL particles by defective APOB/E receptors. {ECO:0000269PubMed:21382890, ECO:0000269PubMed:2563166, ECO:0000269PubMed:7883971, ECO:0000269PubMed:9259199}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR001747 Lipid transport protein, N-terminal
IPR009454 Lipid transport, open beta-sheet
IPR011030 Vitellinogen, superhelical
IPR015255 Vitellinogen, open beta-sheet
IPR015819 Lipid transport protein, beta-sheet shell
IPR016024 Armadillo-type fold
IPR022176 Apolipoprotein B100 C-terminal

PFAM

PF01347
PF06448
PF09172
PF12491

PRINTS

PIRSF

SMART

SM00638

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P04114