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MGP000169

UniProt Annotations

Entry Information
Gene Nameapolipoprotein B
Protein EntryAPOB_HUMAN
UniProt IDP04114
SpeciesHuman
Comments
Comment typeDescription
DiseaseFamilial 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:0000269|PubMed:21382890, ECO:0000269|PubMed:2563166, ECO:0000269|PubMed:7883971, ECO:0000269|PubMed:9259199}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseHypobetalipoproteinemia, 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:0000269|PubMed:12551903, ECO:0000269|PubMed: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:0000269|PubMed:21981844}.
DiseaseNote=Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.
FunctionApolipoprotein 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.
InductionUp-regulated in response to enterovirus 71 (EV71) infection (at protein level). {ECO:0000269|PubMed:16548883}.
InteractionP29991:- (xeno); NbExp=3; IntAct=EBI-3926040, EBI-8826488; P01130:LDLR; NbExp=4; IntAct=EBI-3926040, EBI-988319;
PolymorphismGenetic variations in APOB define the low density lipoprotein cholesterol level quantitative trait locus 4 (LDLCQ4) [MIM:107730].
PtmPalmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle. {ECO:0000269|PubMed:10679026}.
Rna EditingModified_positions=2180; Note=The stop codon (UAA) at position 2180 is created by RNA editing. Apo B-48, derived from the fully edited RNA, is produced only in the intestine and is found in chylomicrons. Apo B-48 is a shortened form of apo B-100 which lacks the LDL-receptor region. The unedited version (apo B- 100) is produced by the liver and is found in the VLDL and LDL.;
Sequence CautionSequence=AAA51752.1; Type=Frameshift; Positions=942, 951, 1139, 1165, 1164, 1371, 1385; Evidence={ECO:0000305};
SimilarityContains 1 vitellogenin domain. {ECO:0000255|PROSITE- ProRule:PRU00557}.
Subcellular LocationCytoplasm {ECO:0000269|PubMed:22580899}. Secreted {ECO:0000269|PubMed:22580899}.
SubunitInteracts with PCSK9. {ECO:0000269|PubMed:22580899}.
Web ResourceName=SHMPD; Note=The Singapore human mutation and polymorphism database; URL="http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOB";
Web ResourceName=Wikipedia; Note=Apolipoprotein B entry; URL="http://en.wikipedia.org/wiki/Apolipoprotein_B";
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