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    APOB apolipoprotein B (including Ag(x) antigen) [ Homo sapiens ]

    Gene ID: 338, updated on 20-May-2012

    Summary

    Official Symbol
    APOBprovided by HGNC
    Official Full Name
    apolipoprotein B (including Ag(x) antigen)provided by HGNC
    Primary source
    HGNC:603
    See related
    Ensembl:ENSG00000084674; HPRD:00133; MIM:107730; Vega:OTTHUMG00000090785
    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; LDLCQ4
    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]

    Genomic context

    Location :
    2p24-p23
    Sequence :
    Chromosome: 2; NC_000002.11 (21224301..21266945, complement)
    See APOB in Epigenomics, MapViewer

    Chromosome 2 - NC_000002.11Genomic Context describing neighboring genes Neighboring gene chromosome 2 open reading frame 43 Neighboring gene growth differentiation factor 7 Neighboring gene tudor domain-containing protein 6-like Neighboring gene nuclear transport factor 2 pseudogene

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    Phenotypes

    Common variants at 30 loci contribute to polygenic dyslipidemia.

    Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.

    Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish.

    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

    Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

    Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

    Genome-wide association of lipid-lowering response to statins in combined study populations.

    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.

    Hypercholesterolemia, due to ligand-defective apo B

    Hypobetalipoproteinemia, normotriglyceridemic

    LDL-cholesterol concentrations: a genome-wide association study.

    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P04114 P02647 APOA1    HPRD  PubMed  
    P04114 P21810 BGN    HPRD  PubMed  
    P04114 P27797 CALR    HPRD  PubMed  
    P04114 P27824 CANX    HPRD  PubMed  
    P04114 P07900 HSP90AA1    HPRD  PubMed  
    P04114 P14625 HSP90B1    HPRD  PubMed  
    P04114 Heat shock 70 KD protein 1A HSPA1A    HPRD  PubMed  
    P04114 P11021 HSPA5    HPRD  PubMed  
    P04114 P11142 HSPA8    HPRD  PubMed  
    P04114 P01130 LDLR    HPRD  PubMed  
    P04114 P11150 LIPC    HPRD  PubMed  
    P04114 P98164 LRP2    HPRD  PubMed  
    P04114 P55157 MTTP    HPRD  PubMed  
    P04114 P13667 PDIA4    HPRD  PubMed  
    P04114 P23284 PPIB    HPRD  PubMed  
    P04114 Q9H9S3 SEC61A2    HPRD  PubMed  
    P04114 P60468 SEC61B    HPRD  PubMed  
    BioGRID:106835 BioGRID:107102 BGN    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106835 BioGRID:107250 CALCR    BioGRID  PubMed Affinity Capture-RNA; Affinity Capture-Western; Co-fractionation 
    BioGRID:106835 BioGRID:107262 CALR    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106835 BioGRID:107271 CANX    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106835 BioGRID:34391 HRD1    BioGRID  PubMed Biochemical Activity 
    BioGRID:106835 BioGRID:113036 HSP90B1    BioGRID  PubMed Affinity Capture-RNA; Affinity Capture-Western; Co-fractionation 
    BioGRID:106835 BioGRID:33726 KAR2    BioGRID  PubMed Biochemical Activity 
    BioGRID:106835 BioGRID:110178 LIPC    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106835 BioGRID:110219 LRP6    BioGRID  PubMed Reconstituted Complex 
    BioGRID:106835 BioGRID:110641 MTTP    BioGRID  PubMed Two-hybrid 
    BioGRID:106835 BioGRID:30941 PDI1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106835 BioGRID:114966 PDIA4    BioGRID  PubMed Affinity Capture-RNA; Affinity Capture-Western; Co-fractionation 
    BioGRID:106835 BioGRID:111475 PPIB    BioGRID  PubMed Affinity Capture-Western; Co-fractionation 
    BioGRID:106835 BioGRID:111822 RAD21    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106835 BioGRID:33200 RPT6    BioGRID  PubMed Biochemical Activity 
    BioGRID:106835 BioGRID:31638 SEC61    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106835 BioGRID:118968 SEC61A1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106835 BioGRID:116152 SEC61B    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106835 BioGRID:31786 SSA1    BioGRID  PubMed Affinity Capture-Western 
    BioGRID:106835 BioGRID:36075 SSE1    BioGRID  PubMed Affinity Capture-Western; Biochemical Activity 
    BioGRID:106835 BioGRID:34959 SSM4    BioGRID  PubMed Biochemical Activity 
    BioGRID:106835 BioGRID:112497 SUMO2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106835 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS; Affinity Capture-Western 
    BioGRID:106835 BioGRID:35193 UBC7    BioGRID  PubMed Biochemical Activity 
    BioGRID:106835 BioGRID:119509 UCHL5    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:106835 BioGRID:33295 UFD1    BioGRID  PubMed Biochemical Activity 

    General gene information

    Markers

    Homology

    Pathways from BioSystems

    • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
      Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
    • Chylomicron-mediated lipid transport, organism-specific biosystem (from REACTOME)
      Chylomicron-mediated lipid transport, organism-specific biosystemChylomicrons transport triacylglycerol, phospholipid, and cholesterol derived from dietary lipid from the small intestine to other tissues of the body. Each chylomicron assembles around a single mole...
    • FOXA1 transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      FOXA1 transcription factor network, organism-specific biosystem
      FOXA1 transcription factor network
    • Fat digestion and absorption, organism-specific biosystem (from KEGG)
      Fat digestion and absorption, organism-specific biosystemFat is an important energy source from food. More than 95% of dietary fat is long-chain triacylglycerols (TAG), the remaining being phospholipids (4.5%) and sterols. In the small intestine lumen, die...
    • Fat digestion and absorption, conserved biosystem (from KEGG)
      Fat digestion and absorption, conserved biosystemFat is an important energy source from food. More than 95% of dietary fat is long-chain triacylglycerols (TAG), the remaining being phospholipids (4.5%) and sterols. In the small intestine lumen, die...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • LDL-mediated lipid transport, organism-specific biosystem (from REACTOME)
      LDL-mediated lipid transport, organism-specific biosystemLDL (low density lipoproteins) are complexes of a single molecule of apoprotein B-100 (apoB-100) non-covalently associated with triacylglycerol, free cholesterol, cholesterol esters, and phospholipid...
    • Lipid digestion, mobilization, and transport, organism-specific biosystem (from REACTOME)
      Lipid digestion, mobilization, and transport, organism-specific biosystemProcesses annotated here include the digestion of dietary lipids, sterol uptake, the formation and turnover of lipoproteins (chylomicrons, VLDL, LDL, and HDL), and the mobilization of fatty acids thr...
    • Lipoprotein metabolism, organism-specific biosystem (from REACTOME)
      Lipoprotein metabolism, organism-specific biosystemBecause of their hydrophobicity, lipids are found in the extracellular spaces of the human body primarily in the form of lipoprotein complexes. Chylomicrons form in the small intestine and transport ...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metabolism of lipids and lipoproteins, organism-specific biosystem (from REACTOME)
      Metabolism of lipids and lipoproteins, organism-specific biosystemLipids are hydrophobic but otherwise chemically diverse molecules that play a wide variety of roles in human biology. They include ketone bodies, fatty acids, triacylglycerols, phospholipids and sphi...
    • Platelet homeostasis, organism-specific biosystem (from REACTOME)
      Platelet homeostasis, organism-specific biosystemUnder normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhesion and activation, suppresses coagulation, enhances fibrin cleavage and is anti-inflammatory in charact...
    • Platelet sensitization by LDL, organism-specific biosystem (from REACTOME)
      Platelet sensitization by LDL, organism-specific biosystemPhysiological concentrations (1g/L) of Low density lipoprotein (LDL) enhance platelet aggregation responses initiated by thrombin, collagen, and ADP. This enhancement involves the rapid phosphorylati...
    • Selenium Pathway, organism-specific biosystem (from WikiPathways)
      Selenium Pathway, organism-specific biosystem
      Selenium Pathway
    • Statin Pathway, organism-specific biosystem (from WikiPathways)
      Statin Pathway, organism-specific biosystemStatins inhibit endogenous cholesterol production by competitive inhibition of HMG-CoA reductase (HMGCR), the enzyme that catalyzes conversion of HMG-CoA to mevalonate, an early rate-limiting step in...
    • Vitamin digestion and absorption, organism-specific biosystem (from KEGG)
      Vitamin digestion and absorption, organism-specific biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
    • Vitamin digestion and absorption, conserved biosystem (from KEGG)
      Vitamin digestion and absorption, conserved biosystemVitamins are a diverse and chemically unrelated group of organic substances that share a common feature of being essential for normal health and well-being. They catalyze numerous biochemical reactio...
    • amb2 Integrin signaling, organism-specific biosystem (from Pathway Interaction Database)
      amb2 Integrin signaling, organism-specific biosystem
      amb2 Integrin signaling

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    cholesterol transporter activity IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    enzyme binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    heparin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lipid transporter activity IEA
    Inferred from Electronic Annotation
    more info
     
    low-density lipoprotein particle receptor binding IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    phospholipid binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein heterodimerization activity IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    artery morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    blood coagulation TAS
    Traceable Author Statement
    more info
     
    cellular response to prostaglandin stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    cellular response to tumor necrosis factor IEA
    Inferred from Electronic Annotation
    more info
     
    cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol metabolic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cholesterol transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    fertilization IEA
    Inferred from Electronic Annotation
    more info
     
    in utero embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    leukocyte migration TAS
    Traceable Author Statement
    more info
     
    lipid catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    lipid metabolic process TAS
    Traceable Author Statement
    more info
     
    lipoprotein biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    lipoprotein catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    lipoprotein metabolic process TAS
    Traceable Author Statement
    more info
     
    lipoprotein transport IEA
    Inferred from Electronic Annotation
    more info
     
    low-density lipoprotein particle clearance IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    low-density lipoprotein particle remodeling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    nervous system development IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of cholesterol storage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of lipid storage IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of macrophage derived foam cell differentiation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    post-embryonic development IEA
    Inferred from Electronic Annotation
    more info
     
    receptor-mediated endocytosis TAS
    Traceable Author Statement
    more info
     
    regulation of cholesterol biosynthetic process IEA
    Inferred from Electronic Annotation
    more info
     
    response to carbohydrate stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    response to lipopolysaccharide IEA
    Inferred from Electronic Annotation
    more info
     
    response to selenium ion IEA
    Inferred from Electronic Annotation
    more info
     
    response to virus IEP
    Inferred from Expression Pattern
    more info
    PubMed 
    small molecule metabolic process TAS
    Traceable Author Statement
    more info
     
    sperm motility IEA
    Inferred from Electronic Annotation
    more info
     
    spermatogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    steroid metabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    transport IEA
    Inferred from Electronic Annotation
    more info
     
    triglyceride catabolic process IEA
    Inferred from Electronic Annotation
    more info
     
    triglyceride mobilization IEA
    Inferred from Electronic Annotation
    more info
     
    very-low-density lipoprotein particle assembly IC
    Inferred by Curator
    more info
    PubMed 
    Component Evidence Code Pubs
    chylomicron IDA
    Inferred from Direct Assay
    more info
    PubMed 
    chylomicron remnant TAS
    Traceable Author Statement
    more info
    PubMed 
    clathrin-coated endocytic vesicle membrane TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum IEA
    Inferred from Electronic Annotation
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    endosome lumen TAS
    Traceable Author Statement
    more info
     
    endosome membrane TAS
    Traceable Author Statement
    more info
     
    extracellular region TAS
    Traceable Author Statement
    more info
     
    extracellular space ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    intermediate-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    mature chylomicron IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microsome IEA
    Inferred from Electronic Annotation
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    very-low-density lipoprotein particle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    vesicle lumen IEA
    Inferred from Electronic Annotation
    more info
     
    vesicle membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    apolipoprotein B-100
    Names
    apolipoprotein B-100
    apoB-48
    apoB-100
    apo B-100
    mutant Apo B 100
    apolipoprotein B48
    NP_000375.2

    NCBI Reference Sequences (RefSeq)

    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_000384.2NP_000375.2  apolipoprotein B-100 precursor

      Status: REVIEWED

      Source sequence(s)
      AB208846, BC051278, J02610, X04506, X04714
      Consensus CDS
      CCDS1703.1
      UniProtKB/Swiss-Prot
      P04114
      UniProtKB/TrEMBL
      Q59HB3
      UniProtKB/TrEMBL
      Q7Z7Q0
      Related
      ENSP00000233242, OTTHUMP00000115994, ENST00000233242, OTTHUMT00000207571
      Conserved Domains (5) summary
      COG0419
      Location:20772583
      Blast Score: 111
      SbcC; ATPase involved in DNA repair [DNA replication, recombination, and repair]
      pfam06448
      Location:9581072
      Blast Score: 303
      DUF1081; Domain of Unknown Function (DUF1081)
      pfam09172
      Location:632945
      Blast Score: 498
      DUF1943; Domain of unknown function (DUF1943)
      pfam12491
      Location:44944551
      Blast Score: 271
      ApoB100_C; Apolipoprotein B100 C terminal
      pfam01347
      Location:46597
      Blast Score: 961
      Vitellogenin_N; Lipoprotein amino terminal region

    RefSeqs of Annotated Genomes: Build 37.3

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

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000002.11 Reference GRCh37.p5 Primary Assembly

      Range
      21224301..21266945, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000134.1 Alternate HuRef

      Range
      20956976..20999627, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AC010872.8 AAX88848.1
    genomic AC115619.3 AAX93246.1
    genomic AY324608.1 AAP72970.1
    genomic CH471053.2 EAX00801.1
      EAX00802.1
      EAX00803.1
    genomic J04838.1 AAA53373.1
      AAA53374.1
    genomic M15053.1 AAB60718.1
    genomic M19828.1 AAB00481.1
    genomic X04867.1 CAA28558.1
    genomic X04868.1 CAA28559.1
    genomic X04869.1 CAA28560.1
    genomic X04870.1 CAA28561.1
    mRNA AB208846.1 BAD92083.1
    mRNA AJ399514.1 None
    mRNA AK290844.1 BAF83533.1
    mRNA BC051278.1 AAH51278.1
    mRNA HM487065.1 ADN03360.1
    mRNA J02610.1 AAA35549.1
    mRNA K03175.1 AAA51759.1
    mRNA M10374.1 AAA51750.1
    mRNA M12413.1 AAA51742.1
    mRNA M12480.1 AAA51751.1
    mRNA M12681.1 AAA51753.1
    mRNA M14081.1 AAA51752.1
    mRNA M14162.1 AAB04636.1
    mRNA M15421.1 AAA51758.1
    mRNA M17367.1 AAA51741.1
    mRNA M17779.1 AAA51755.1
    mRNA M18036.1 AAA51754.1
    mRNA M18471.1 AAA35541.1
    mRNA M19734.1 AAA35544.1
    mRNA M31030.1 AAA51756.1
    mRNA M36676.1 AAA35548.1
    mRNA X03045.1 CAA26850.1
    mRNA X03324.1 CAA27043.1
    mRNA X03325.1 CAA27044.1
    mRNA X03326.1 CAA27045.1
    mRNA X04506.1 CAA28191.1
    mRNA X04714.1 CAA28420.1
    other-genetic GU014832.1 ACX32319.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P04114.2 GenPept UniProtKB/Swiss-Prot:P04114
    P78482 GenPept UniProtKB/TrEMBL:P78482
    Q13789 GenPept UniProtKB/TrEMBL:Q13789
    Q13828 GenPept UniProtKB/TrEMBL:Q13828
    Q59HB3 GenPept UniProtKB/TrEMBL:Q59HB3
    Q7Z7Q0 GenPept UniProtKB/TrEMBL:Q7Z7Q0
    Q9UE51 GenPept UniProtKB/TrEMBL:Q9UE51
    Q9UE52 GenPept UniProtKB/TrEMBL:Q9UE52
    Q9UE53 GenPept UniProtKB/TrEMBL:Q9UE53

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