NP_000375.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
515,605 Da
NCBI Official Full Name
apolipoprotein B-100
NCBI Official Synonym Full Names
apolipoprotein B
NCBI Official Synonym Symbols
NCBI Protein Information
apolipoprotein B-100; apoB-48; apoB-100; apo B-100; mutant Apo B 100; apolipoprotein B48; apolipoprotein B (including Ag(x) antigen)
UniProt Protein Name
Apolipoprotein B-100
UniProt Synonym Gene Names
UniProt Entry Name
APOB_HUMAN
NCBI Summary for APOB
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]
UniProt Comments for APOB
APOB: 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. Defects in APOB are a cause of familial hypobetalipoproteinemia type 1 (FHBL1). A disorder characterized by highly reduced plasma concentrations of low density lipoproteins, and dietary fat malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological dysfunction similar to abetalipoproteinemia. Defects in APOB are a cause of familial ligand-defective apolipoprotein B-100 (FDB). FDB is a 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. Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.
Protein type: Secreted; Secreted, signal peptide; Carrier
Chromosomal Location of Human Ortholog: 2p24-p23
Cellular Component: Golgi apparatus; extracellular space; endoplasmic reticulum membrane; intracellular membrane-bound organelle; endoplasmic reticulum lumen; early endosome; extracellular region; cytosol; actin cytoskeleton; chylomicron; cell soma; cytoplasm; plasma membrane; endosome membrane
Molecular Function: heparin binding; protein binding; low-density lipoprotein receptor binding; cholesterol transporter activity; phospholipid binding
Biological Process: lipoprotein catabolic process; phototransduction, visible light; response to lipopolysaccharide; response to carbohydrate stimulus; post-embryonic development; response to selenium ion; triacylglycerol catabolic process; retinoid metabolic process; transmembrane transport; receptor-mediated endocytosis; cholesterol metabolic process; nervous system development; cholesterol transport; in utero embryonic development; response to virus; regulation of cholesterol biosynthetic process; lipoprotein metabolic process; cholesterol efflux; cholesterol homeostasis; sperm motility; fertilization; lipoprotein biosynthetic process; lipoprotein transport; artery morphogenesis; spermatogenesis; blood coagulation; triacylglycerol mobilization; leukocyte migration
Disease: Hypercholesterolemia, Autosomal Dominant, Type B; Hypobetalipoproteinemia, Familial, 1
Research Articles on APOB
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Products associated with APOB elisa kit
Pathways associated with APOB elisa kit
Diseases associated with APOB elisa kit
Organs/Tissues associated with APOB elisa kit
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