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APOB Gene

protein-coding   GIFtS: 64
GCID: GC02M021135

Apolipoprotein B

(Previous name: apolipoprotein B (including Ag(x) antigen))
  See APOB-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Apolipoprotein B1 2     apoB-1002
Apolipoprotein B (Including Ag(X) Antigen)1 2     apoB-482
Apo B-1002 3     Apolipoprotein B-1002
FLDB2 5     Apolipoprotein B482
LDLCQ42 5     Mutant Apo B 1002

External Ids:    HGNC: 6031   Entrez Gene: 3382   Ensembl: ENSG000000846747   OMIM: 1077305   UniProtKB: P041143   

Export aliases for APOB gene to outside databases

Previous GC identifers: GC02M021130 GC02M021317 GC02M021198 GC02M020956


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for APOB Gene:
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)

GeneCards Summary for APOB Gene:
APOB (apolipoprotein B) is a protein-coding gene. Diseases associated with APOB include defective apolipoprotein b-100, and apob-related familial hypercholesterolemia, autosomal dominant. GO annotations related to this gene include enzyme binding and protein heterodimerization activity.

UniProtKB/Swiss-Prot: APOB_HUMAN, P04114
Function: 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

Gene Wiki entry for APOB (Apolipoprotein B) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_022184.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the APOB gene promoter:
         Max1   NF-1   FOXD1   RORalpha1   MEF-2A   POU2F1   POU2F1a   aMEF-2   GR-alpha   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for APOB

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat APOB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2p24-p23   Ensembl cytogenetic band:  2p24.1   HGNC cytogenetic band: 2p24-p23

APOB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
APOB gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M021135:  view genomic region     (about GC identifiers)

Start:
21,224,301 bp from pter      End:
21,266,945 bp from pter
Size:
42,645 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: APOB_HUMAN, P04114 (See protein sequence)
Recommended Name: Apolipoprotein B-100 precursor  
Size: 4563 amino acids; 515605 Da
Subunit: Interacts with PCSK9
Rna editing: Modified_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 caution: Sequence=AAA51752.1; Type=Frameshift; Positions=942, 951, 1139, 1165, 1164, 1371, 1385;
Secondary accessions: O00502 P78479 P78480 P78481 Q13779 Q13785 Q13786 Q13787 Q13788 Q4ZG63
Q53QC8 Q7Z600 Q9UMN0

Explore the universe of human proteins at neXtProt for APOB: NX_P04114

Explore proteomics data for APOB at MOPED

Post-translational modifications: 

  • Palmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle1
  • Glycosylation2 at Asn34, Asn185, Asn983, Asn1368, Asn1377, Asn1523, Asn2239, Asn2560, Asn2779, Asn2982,
                                 Asn3101, Thr3220, Asn3224, Asn3336, Asn3358, Asn3411, Asn3465, Asn3895, Asn4237, Asn4431
  • Modification sites at PhosphoSitePlus

  • See APOB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000375.2  
    ENSEMBL proteins: 
     ENSP00000233242   ENSP00000382200  
    Reactome Protein details: P04114

    APOB Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant APOB Protein
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    Cloud-Clone Corp. Proteins for APOB

     
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    antibodies-online proteins for APOB (28 products) 

     
    antibodies-online peptides for APOB

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    APOB Assay Products:

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    antibodies-online kits for APOB (2 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    APOLIPO: Apolipoproteins

    Selected InterPro protein domains (see all 10):
     IPR015817 Vitellinogen_open_b-sht_sub1
     IPR022176 ApoB100_C
     IPR015819 Lipid_transp_b-sht_shell
     IPR011030 Vitellinogen_superhlx
     IPR015818 Vitellinogen_open_b-sht_sub2

    Graphical View of Domain Structure for InterPro Entry P04114

    ProtoNet protein and cluster: P04114

    1 Blocks protein domain: IPB001747 Lipid transport protein

    UniProtKB/Swiss-Prot: APOB_HUMAN, P04114
    Similarity: Contains 1 vitellogenin domain


    Find genes that share domains with APOB           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: APOB_HUMAN, P04114
    Function: 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
    Induction: Up-regulated in response to enterovirus 71 (EV71) infection (at protein level)

         Genatlas biochemistry entry for APOB:
    apolipoprotein B (including Ag(x) antigen),major component of chylomicrons,VLDL,LDL with two forms B100 and B48
    (intestine),3'MARs,likely functioning as an insulator element,conferring high level and position independent
    expression of ApoB,flanked by sequences binding to nuclear matrix between nuclear sensitive and resitant
    chromatin

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005319lipid transporter activity ----
    GO:0005488binding ----
    GO:0005515protein binding IPI--
    GO:0005543phospholipid binding IDA7126555
    GO:0008201heparin binding IDA16233946
         
    Find genes that share ontologies with APOB           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 11 alleles(MGI details for Apob):
     cardiovascular system  embryogenesis  growth/size/body  homeostasis/metabolism  liver/biliary system 
     mortality/aging  nervous system  pigmentation  reproductive system  vision/eye 

    Find genes that share phenotypes with APOB           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for APOB: Apobtm3Sgy Apobtm1Bres Apobtm1Sgy Apobtm2Sgy

       genOway: Develop your customized and physiologically relevant rodent model for APOB

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate APOB:
    hsa-miR-548p
    SwitchGear 3'UTR luciferase reporter plasmidAPOB 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat APOB

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-10197) for APOB 


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    APOB_HUMAN, P04114: Cytoplasm. Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol4
    endoplasmic reticulum4
    endosome4
    plasma membrane4
    golgi apparatus2
    nucleus2
    peroxisome2
    lysosome1
    mitochondrion1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space ISS--
    GO:0005737cytoplasm IDA--
    GO:0005769early endosome TAS--
    GO:0005783endoplasmic reticulum ----

    Find genes that share ontologies with APOB           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for APOB About   (see all 18)  
    See pathways by source

    SuperPathContained pathways About
    1Statin Pathway
    Statin Pathway0.73
    Statin Pathway, Pharmacodynamics0.73
    2Binding and Uptake of Ligands by Scavenger Receptors
    Binding and Uptake of Ligands by Scavenger Receptors0.53
    Scavenging by Class B Receptors0.00
    Scavenging by Class H Receptors0.00
    Scavenging by Class A Receptors0.00
    Scavenging by Class F Receptors0.00
    3Lipoprotein metabolism
    Lipoprotein metabolism0.59
    LDL-mediated lipid transport0.00
    Lipid digestion, mobilization, and transport0.59
    Chylomicron-mediated lipid transport0.00
    4Diseases associated with visual transduction
    Visual phototransduction0.44
    Diseases associated with visual transduction0.43
    Retinoid metabolism and transport0.44
    5Metabolism
    Metabolism0.38
    Metabolism of lipids and lipoproteins0.37


    Find genes that share SuperPaths with APOB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4 BioSystems Pathways for APOB
        Statin Pathway
    Selenium Pathway
    amb2 Integrin signaling
    FOXA1 transcription factor network

    Selected Reactome Pathways for APOB (see all 9)
        Scavenging by Class H Receptors
    Scavenging by Class F Receptors
    Chylomicron-mediated lipid transport
    LDL-mediated lipid transport
    Retinoid metabolism and transport

    1 PharmGKB Pathway for APOB
        Statin Pathway, Pharmacodynamics

    2 Kegg Pathways  (Kegg details for APOB):
        Fat digestion and absorption
    Vitamin digestion and absorption

        Pathway & Disease-focused RT2 Profiler PCR Arrays including APOB: 
              Atherosclerosis in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Fatty Liver in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for APOB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for APOB (P041141, 3 ENSP000002332424) via UniProtKB, MINT, STRING, and/or I2D (see all 93)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HSPA1AP081073, ENSP000003648024I2D: score=1 STRING: ENSP00000364802
    ENSG00000212866P081073I2D: score=1 
    ENSG00000215328P081073I2D: score=1 
    ENSG00000224501P081073I2D: score=1 
    ENSG00000231555P081073I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 40):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001523retinoid metabolic process TAS--
    GO:0001701in utero embryonic development IEA--
    GO:0006629lipid metabolic process ----
    GO:0006642triglyceride mobilization IEA--
    GO:0006869lipid transport ----

    Find genes that share ontologies with APOB           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for APOB

    2 HMDB Compounds for APOB    About this table
    CompoundSynonyms CAS #PubMed Ids
    AtorvastatinAtorvastatin acid (see all 4)134523-00-5--
    HeparinArteven (see all 17)9005-49-6--

    Selected Novoseek inferred chemical compound relationships for APOB gene (see all 121)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cholesterol 94.6 5007 8071601 (7), 19491209 (7), 1591376 (6), 17214991 (6) (see all 99)
    lipid 89.9 839 18789885 (7), 15254032 (5), 12216835 (4), 9065474 (4) (see all 99)
    xbai 80.6 101 1348933 (3), 8095917 (3), 9298741 (2), 9353975 (2) (see all 62)
    simvastatin 79.5 117 1627634 (4), 10357840 (3), 18184901 (3), 9027779 (2) (see all 76)
    atorvastatin 77.3 132 10357840 (7), 11882317 (4), 12606523 (3), 9115054 (2) (see all 67)
    ezetimibe 77.2 37 19331437 (2), 19770624 (2), 19490064 (2), 12423709 (1) (see all 22)
    triacylglycerol 75.2 160 1332692 (6), 9162741 (4), 17054424 (3), 9065474 (3) (see all 74)
    n-acetylleucylleucylnorleucinal 74.6 47 8226809 (9), 10195935 (2), 8132654 (2), 12670935 (1) (see all 15)
    colestipol 70.7 3 7772081 (1), 8620338 (1)
    fibrinogen 70.4 185 8960421 (4), 11730086 (4), 11942772 (3), 10873614 (3) (see all 99)

    2 PharmGKB related drug/compound annotations for APOB gene    About this table
    Drug/compound PharmGKB Annotation
    irbesartanCA  
    lomitapide



    Find genes that share compounds with APOB           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for APOB gene: 
    NM_000384.2  

    Unigene Cluster for APOB:

    Apolipoprotein B (including Ag(x) antigen)
    Hs.120759  [show with all ESTs]
    Unigene Representative Sequence: NM_000384
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000233242(uc002red.3) ENST00000399256
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AB208846.1 AJ399514.1 AK290844.1 BC051278.1 HM487065.1 J02610.1 K03175.1 M10374.1 
    M12413.1 M12480.1 M12681.1 M14081.1 M14162.1 M15421.1 M17367.1 M17779.1 
    M18036.1 M18471.1 M19734.1 M31030.1 M36676.1 X03045.1 X03324.1 X03325.1 
    X03326.1 X04506.1 X04714.1 

    10 DOTS entries:

    DT.95372545  DT.100662865  DT.91769062  DT.100864605  DT.91726507  DT.121004388  DT.121004420  DT.447613 
    DT.91769059  DT.95372544 

    Selected AceView cDNA sequences (see all 273):

    AV647296 AI289646 AI133683 BX496335 BX495030 BX500939 AI207453 AV647782 
    BX955720 M36676 AI133450 CB155993 D11914 BG567607 BX503360 BX495602 
    W80735 AI338129 M12480 AI114841 BX482006 M12681 CB164518 BG563159 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for APOB    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^
    SP1:                                                                                                  -                                                         
    SP2:                                                                                            -                                                               
    SP3:                                                                                                                                                            

    ExUns: 26 ^ 27 ^ 28 ^ 29 ^ 30
    SP1:                              
    SP2:                              
    SP3:                              


    ECgene alternative splicing isoforms for APOB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    APOB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGCTTGCTC
    APOB Expression
    About this image


    APOB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     NULL (Uncategorized)    fully expand to see all 2 entries
             Vascular endothelial growth factor-induced embryoid bodies
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Gut Tube (Gastrointestinal Tract)
             Midgut
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Heart (Cardiovascular System)
             Cardiomyocyte-like progenitor cells
    APOB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APOB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.120759
        Pathway & Disease-focused RT2 Profiler PCR Arrays including APOB: 
              Atherosclerosis in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Fatty Liver in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for APOB gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apob1 , 5 apolipoprotein B1, 5 78.83(n)1
    71.2(a)1
      12 (3.53 cM)5
    2380551  NM_009693.21  NP_033823.21 
     79776485 
    chicken
    (Gallus gallus)
    Aves APOB1 apolipoprotein B (including Ag(x) antigen) 61.51(n)
    50.93(a)
      396535  NM_001044633.1  NP_001038098.1 
    lizard
    (Anolis carolinensis)
    Reptilia APOB6
    apolipoprotein B
    47(a)
    1 ↔ 1
    1(155809827-155867934)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC644182 hypothetical protein MGC64418 74.86(n)    BC054229.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570488692   -- 72.03(n)    57048869 
    fruit fly
    (Drosophila melanogaster)
    Insecta Rfabg6
    CG158286
    --
    16(a)
    13(a)
    many → 1
    many → 1
    4(1085538-1096830)
    2L(9634201-9656026)


    ENSEMBL Gene Tree for APOB (if available)
    TreeFam Gene Tree for APOB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    APOB_HUMAN, P04114: Genetic variations in APOB define the low density lipoprotein cholesterol level quantitative trait
    locus 4 (LDLCQ4) [MIM:107730]


    Selected SNPs for APOB (see all 1589)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs127135591,2,,4
    C,F,HFamilial ligand-defective apolipoprotein B-100 (FDB)4 pathogenic121229068(-) TCCAAC/TGCATA 2 R C mis1 ese314Minor allele frequency- T:0.00NS EA NA EU 7059
    rs57429041,2,,4
    C,F,HFamilial ligand-defective apolipoprotein B-100 (FDB)4 pathogenic121229160(-) CACACG/AGTCTT 2 /Q /R mis1 ese38Minor allele frequency- A:0.18NS EA NA EU 7643
    VAR_0226104
    Hypobetalipoproteinemia, familial, 1 (FHBL1)4--see VAR_0226102 R W mis40--------
    VAR_0357954
    A colorectal cancer sample4--see VAR_0357952 F C mis40--------
    rs1381577511,2
    Cuntested121226042(+) TTGACA/GTAATC 2 Y syn11Minor allele frequency- G:0.00NA 4550
    rs1420566601,2
    Cuntested121231406(+) CCATTC/TCCTAT 2 G syn11Minor allele frequency- T:0.00NA 4544
    rs1465382801,2
    Cuntested121232203(+) CTCTCA/GGAATT 2 R * stg10--------
    rs590631011,2
    --21223853(+) AATATG/TTAATT 1 -- ds50010--------
    rs574379721,2
    --21223894(+) ATAAAC/TATTTT 1 -- ds50010--------
    rs1852355841,2
    --21223913(+) AATATG/TTAATT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for APOB (21224301 - 21266945 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for APOB:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv873728CNV Loss21882294

    Human Gene Mutation Database (HGMD): APOB
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing APOB
    DNA2.0 Custom Variant and Variant Library Synthesis for APOB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 107730   
    OMIM disorders: 615558  144010  
    UniProtKB/Swiss-Prot: APOB_HUMAN, P04114
  • Hypobetalipoproteinemia, familial, 1 (FHBL1) [MIM:615558]: A disorder of lipid metabolism characterized
    by less than 5th percentile age- and sex-specific levels of low density lipoproteins, and dietary fat
    malabsorption. Clinical presentation may vary from no symptoms to severe gastrointestinal and neurological
    dysfunction similar to abetalipoproteinemia. Note=The disease is caused by mutations affecting the gene
    represented in this entry. Most cases of FHBL1 result from nonsense mutations in the APOB gene that lead to a
    premature stop codon, which generate prematurely truncated apo B protein products (PubMed:21981844)
  • Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Note=Defects in APOB associated with defects in other genes (polygenic) can contribute to
    hypocholesterolemia

  • Selected diseases for APOB (see all 36):    
    About MalaCards
    defective apolipoprotein b-100    apob-related familial hypercholesterolemia, autosomal dominant    hypercholesterolemia, due to ligand-defective apo b    hypobetalipoproteinemia
    chylomicron retention disease    familial combined hyperlipoproteinemia    lipid metabolism disorder    hypobetalipoproteinemia, familial, 2
    familial hypercholesterolemia    hyperapobetalipoproteinemia    abetalipoproteinemia    avascular necrosis of the femoral head
    familial combined hyperlipidemia    hypercholesterolemia    lipoprotein glomerulopathy    familial hypertriglyceridemia
    myocardial infarction susceptibility    exencephaly    noma    hyperlipoproteinemia type iii

    16 diseases from the University of Copenhagen DISEASES database for APOB:
    Atherosclerosis     Coronary heart disease     Familial hyperlipidemia     Abetalipoproteinemia
    Hypobetalipoproteinemia     Diabetes mellitus     Myocardial infarction     Hypertension
    Kidney disease     Familial hypertriglyceridemia     Cerebrovascular accident     Hyperinsulinism
    Hyperglycemia     Tangier disease     Hypothyroidism     Xanthomatosis

    Find genes that share disorders with APOB           About GenesLikeMe

    Selected Novoseek inferred disease relationships for APOB gene (see all 94)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    abetalipoproteinemia 91.1 129 1860638 (4), 8422264 (3), 10224165 (3), 11940084 (2) (see all 63)
    hypobetalipoproteinemia 89.3 51 8300620 (3), 7947592 (3), 1431583 (2), 9714141 (2) (see all 31)
    hypercholesterolemia familial 88 72 1770303 (2), 20451687 (2), 8978490 (2), 1415054 (2) (see all 51)
    hyperlipidemia familial combined 87.4 42 15308552 (2), 19965785 (2), 8224806 (2), 1761202 (2) (see all 30)
    apolipoprotein b-100, familial defective 86.4 12 7784416 (1), 1845776 (1), 8001287 (1), 11031227 (1) (see all 11)
    hypercholesterolemia 85.8 120 9254062 (4), 18377643 (3), 7627691 (3), 10952765 (2) (see all 86)
    dyslipidemia 83.8 50 9407512 (2), 7723244 (1), 10781757 (1), 15982605 (1) (see all 42)
    atherosclerosis 83.3 158 10634369 (3), 8604528 (3), 9667803 (3), 20030174 (2) (see all 99)
    coronary heart disease 82.3 127 10930142 (4), 17698856 (2), 8697069 (2), 1346774 (2) (see all 89)
    hypertriglyceridemia 81.2 50 1459430 (3), 8148350 (2), 15043507 (2), 16343038 (1) (see all 36)

    Genatlas disease: APOB
    primary hypercholesterolemia with peripheral vascular disease,familial ligand defective APO-B (receptor binding
    defective LDL) and/or myocardial infarction susceptibility with an insertion/deletion polymorphism in the signal
    peptide

    Genetic Association Database (GAD): APOB
    Human Genome Epidemiology (HuGE) Navigator: APOB (444 documents)

    Export disorders for APOB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for APOB gene, integrated from 10 sources (see all 2892):
    (articles sorted by number of sources associating them with APOB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Biological, clinical and population relevance of 95 loci for blood lipids. (PubMed id 20686565)1, 2, 4 Teslovich T.M....Kathiresan S. (Nature 2010)
    2. Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100. (PubMed id 2563166)1, 2, 4 Soria L.F....McCarthy B.J. (Proc. Natl. Acad. Sci. U.S.A. 1989)
    3. Apolipoprotein B levels, APOB alleles, and risk of ischemic cardiovascular disease in the general population, a review. (PubMed id 19200547)1, 4, 9 Benn M. (Atherosclerosis 2009)
    4. Common and rare alleles in apolipoprotein B contribute to plasma levels of low-density lipoprotein cholesterol in the general population. (PubMed id 18160469)1, 4, 9 Benn M....Tybjaerg-Hansen A. (J. Clin. Endocrinol. Metab. 2008)
    5. Apolipoprotein E and apolipoprotein B genotypes and risk for spina bifida. (PubMed id 12397634)1, 4, 9 Volcik K.A....Finnell R.H. (Teratology 2002)
    6. Apolipoprotein B (APOB) gene polymorphism in patients with gallbladder disease. (PubMed id 17350490)1, 4, 9 Kurzawski M....DroA_dzik M. (Arch. Med. Res. 2007)
    7. Genetic association study of selected candidate genes (ApoB, LPL, Leptin) and telomere length in obese and hypertensive individuals. (PubMed id 19772655)1, 4, 9 Das B....Seshadri M. (BMC Med. Genet. 2009)
    8. Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. (PubMed id 20145306)1, 4, 9 Chmara M....Limon J. (J. Appl. Genet. 2010)
    9. Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting. (PubMed id 19007590)1, 4, 9 Civeira F....PocovA- M. (J. Am. Coll. Cardiol. 2008)
    10. Polymorphisms in apolipoprotein B and risk of ischemic stroke. (PubMed id 17595251)1, 4, 9 Benn M....Tybjaerg-Hansen A. (J. Clin. Endocrinol. Metab. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 338 HGNC: 603 AceView: APOB Ensembl:ENSG00000084674 euGenes: HUgn338
    ECgene: APOB Kegg: 338 H-InvDB: APOB

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for APOB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=APOB[genesymbol]
    SHMPDhttp://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=APOB
    Wikipedia http://en.wikipedia.org/wiki/Apolipoprotein_B

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for APOB gene:
    Search GeneIP for patents involving APOB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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