APOB

GENE INFORMATION

? »

Gene name

APOB

Synonyms

Description

apolipoprotein B (HGNC Symbol)

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]

Chromosome

2 (Chromosome progress)

Cytoband

p24.1

Chromosome location (bp)

21224301 - 21266945

Ensembl

ENSG00000084674 (version 73.37)

Entrez gene

338

UniProt

P04114 (UniProt - Evidence at protein level)

neXtProt

NX_P04114

Antibodypedia

APOB antibodies
 

PROTEIN VIEW

? »
 
 
 
APOB-001
 
APOB-002
 
 
 
 
 

PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

APOB-001 ENSP00000233242
ENST00000233242
P04114
Show all »
Show » Show » 4563 515.6 Yes 0
APOB-002 ENSP00000382200
ENST00000399256
A8MUN2
Show all »
Show » Show » 828 92.6 Yes 0