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    APOB apolipoprotein B [ Homo sapiens (human) ]

    Gene ID: 338, updated on 26-Jul-2021

    Summary

    Official Symbol
    APOBprovided by HGNC
    Official Full Name
    apolipoprotein Bprovided by HGNC
    Primary source
    HGNC:HGNC:603
    See related
    Ensembl:ENSG00000084674 MIM:107730
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FLDB; FCHL2; LDLCQ4; apoB-48; apoB-100
    Summary
    This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. 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, Dec 2019]
    Expression
    Biased expression in liver (RPKM 415.6), small intestine (RPKM 182.7) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See APOB in Genome Data Viewer
    Location:
    2p24.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (21001429..21044073, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (21224301..21266945, complement)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene lipid droplet associated hydrolase Neighboring gene long intergenic non-protein coding RNA 2850 Neighboring gene APOB 3' scaffold/matrix attachment region Neighboring gene APOB 5' regulatory region Neighboring gene APOB intestinal control region Neighboring gene tudor domain containing 15

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in APOB that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Biological, clinical and population relevance of 95 loci for blood lipids.
    GeneReviews: Not available
    Bipolar disorder with comorbid binge eating history: A genome-wide association study implicates APOB.
    GeneReviews: Not available
    Common variants at 30 loci contribute to polygenic dyslipidemia.
    GeneReviews: Not available
    Discovery and refinement of loci associated with lipid levels.
    GeneReviews: Not available
    Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
    GeneReviews: Not available
    Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish.
    GeneReviews: Not available
    Familial hypercholesterolemia Compare labs
    Familial hypercholesterolemia 2
    MedGen: C1704417 OMIM: 144010 GeneReviews: Familial Hypercholesterolemia
    Compare labs
    Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
    GeneReviews: Not available
    Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
    GeneReviews: Not available
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    GeneReviews: Not available
    Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
    GeneReviews: Not available
    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
    GeneReviews: Not available
    Genome-wide association of lipid-lowering response to statins in combined study populations.
    GeneReviews: Not available
    Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
    GeneReviews: Not available
    Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
    GeneReviews: Not available
    Genome-wide association study pinpoints a new functional apolipoprotein B variant influencing oxidized low-density lipoprotein levels but not cardiovascular events: AtheroRemo Consortium.
    GeneReviews: Not available
    Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
    GeneReviews: Not available
    Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
    GeneReviews: Not available
    Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
    GeneReviews: Not available
    Hypobetalipoproteinemia, familial, 1 Compare labs
    LDL-cholesterol concentrations: a genome-wide association study.
    GeneReviews: Not available
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    GeneReviews: Not available
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    GeneReviews: Not available
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    GeneReviews: Not available
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    GeneReviews: Not available

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2020-04-09)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-09)

    ClinGen Genome Curation PagePubMed

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of apolipoprotein B (APOB) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cholesterol transfer activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables cholesterol transfer activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables lipase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables low-density lipoprotein particle receptor binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    enables low-density lipoprotein particle receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enables low-density lipoprotein particle receptor binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in artery morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to prostaglandin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol efflux IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cholesterol homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in cholesterol transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in fertilization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in flagellated sperm motility IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in intermembrane lipid transfer IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipoprotein biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipoprotein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in lipoprotein transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in low-density lipoprotein particle clearance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in low-density lipoprotein particle remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of cholesterol storage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of lipid storage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of macrophage derived foam cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to carbohydrate IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to estradiol IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to selenium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to virus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    involved_in spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in triglyceride catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in triglyceride mobilization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    involved_in very-low-density lipoprotein particle assembly IC
    Inferred by Curator
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of chylomicron IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of chylomicron remnant TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in early endosome TAS
    Traceable Author Statement
    more info
     
    located_in endocytic vesicle lumen TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum exit site IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    located_in endosome lumen TAS
    Traceable Author Statement
    more info
     
    located_in endosome membrane TAS
    Traceable Author Statement
    more info
     
    located_in extracellular exosome HDA PubMed 
    located_in extracellular region HDA PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
     
    located_in extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
    PubMed 
    part_of high-density lipoprotein particle IEA
    Inferred from Electronic Annotation
    more info
     
    part_of intermediate-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    located_in lipid droplet IEA
    Inferred from Electronic Annotation
    more info
     
    part_of low-density lipoprotein particle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of low-density lipoprotein particle TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in lysosomal lumen TAS
    Traceable Author Statement
    more info
     
    part_of mature chylomicron IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of mature chylomicron IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neuronal cell body IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in smooth endoplasmic reticulum TAS
    Traceable Author Statement
    more info
     
    part_of very-low-density lipoprotein particle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    part_of very-low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of very-low-density lipoprotein particle TAS
    Traceable Author Statement
    more info
    PubMed 
    located_in vesicle lumen IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    apolipoprotein B-100
    Names
    apolipoprotein B (including Ag(x) antigen)
    apolipoprotein B48

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011793.1 RefSeqGene

      Range
      5001..47645
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000384.3NP_000375.3  apolipoprotein B-100 precursor

      Status: REVIEWED

      Source sequence(s)
      AC010872, AC115619, KF456638
      Consensus CDS
      CCDS1703.1
      Related
      ENSP00000233242.1, ENST00000233242.5
      Conserved Domains (7) summary
      TIGR01612
      Location:20602490
      235kDa-fam; reticulocyte binding/rhoptry protein
      COG1340
      Location:42584523
      COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
      pfam01347
      Location:46597
      Vitellogenin_N; Lipoprotein amino terminal region
      pfam12491
      Location:44944550
      ApoB100_C; Apolipoprotein B100 C terminal
      pfam06448
      Location:9611062
      DUF1081; Domain of Unknown Function (DUF1081)
      pfam09172
      Location:632937
      DUF1943; Domain of unknown function (DUF1943)
      cl21487
      Location:14481865
      OM_channels; Porin superfamily. These outer membrane channels share a beta-barrel structure that differ in strand and shear number. Classical (gram-negative ) porins are non-specific channels for small hydrophillic molecules and form 16 beta-stranded barrels (16,20) ...

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

      Range
      21001429..21044073 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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