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LMP000974

UniProt Annotations

Entry Information
Gene Nameapolipoprotein B
Protein EntryAPOB_HUMAN
UniProt IDP04114
SpeciesHuman
Comments
Comment typeDescription
DiseaseFamilial ligand-defective apolipoprotein B-100 (FDB) [MIM
DiseaseHypobetalipoproteinemia, familial, 1 (FHBL1) [MIM
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).
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
PtmPalmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle.
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= ;
SimilarityContains 1 vitellogenin domain. {ECO
Subcellular LocationCytoplasm . Secreted .
SubunitInteracts with PCSK9.
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";