Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

APOB Gene

protein-coding   GIFtS: 64
GCID: GC02M021135

Apolipoprotein B

(Previous name: apolipoprotein B (including Ag(x) antigen))
Microbiology & Infectious Diseases Congress
  See 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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 hypobetalipoproteinemia, and hypercholesterolemia, due to ligand-defective apo b, and among its related super-pathways are Statin Pathway and Lipoprotein metabolism. GO annotations related to this gene include enzyme binding and protein heterodimerization activity. An important paralog of this gene is LOC400499.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.2  NT_022184.15  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for APOB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Cytoplasm. Secreted
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:

  • UniProtKB: Palmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P04114

  • APOB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    APOB Protein Expression
    REFSEQ proteins: NP_000375.2  
    ENSEMBL proteins: 
     ENSP00000233242   ENSP00000382200  
    Reactome Protein details: P04114
    Human Recombinant Protein Products for APOB: 
    EMD Millipore Purified and/or Recombinant APOB Protein
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for APOB
    GenScript Custom Purified and Recombinant Proteins Services for APOB
    Novus Biologicals APOB Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for APOB 

    Gene Ontology (GO): 5/22 cellular component terms (GO ID links to tree view) (see all 22):    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 ----

    APOB for ontologies           About GeneDecksing



    APOB Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of APOB
    R&D Systems Antibodies for APOB (Apolipoprotein B100/ApoB100, Apolipoprotein B/ApoB)
    OriGene Antibodies for APOB
    OriGene Custom Antibody Services for APOB
    GenScript Superior Antibodies for APOB
    Novus Biologicals APOB Antibodies
    Abcam antibodies for APOB
    Cloud-Clone Corp. Antibodies for APOB 
    ThermoFisher Antibody for APOB
    LSBio Antibodies in human, mouse, rat for APOB 

    Assay Products for APOB: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for APOB
    R&D Systems ELISAs for APOB (Apolipoprotein B/ApoB)
    GenScript Custom Assay Services for APOB
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for APOB 
    Cloud-Clone Corp. CLIAs for APOB


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

    5/9 InterPro protein domains (see all 9):
     IPR011030 Vitellinogen_superhlx
     IPR015818 Vitellinogen_open_b-sht_sub2
     IPR015817 Vitellinogen_open_b-sht_sub1
     IPR001747 Lipid_transpt_N
     IPR015816 Vitellinogen_b-sht_N

    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


    APOB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    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
         
    APOB for ontologies           About GeneDecksing


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

    APOB for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for APOB 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for APOB

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for APOB 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for APOB 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APOB
    1 QIAGEN miScript miRNA Assays for microRNA that regulate APOB:
    hsa-miR-548p
    SwitchGear 3'UTR luciferase reporter plasmidAPOB 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for APOB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APOB

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for APOB


    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for APOB (see all 4)
    OriGene ORF clones in mouse, rat for APOB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: APOB (NM_000384)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APOB
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat APOB

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for APOB
    Search LifeMap BioReagents cell lines for APOB
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOB


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for APOB About   (see all 24)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Statin Pathway, Pharmacodynamics
    Statin Pathway0.73
    Statin Pathway, Pharmacodynamics0.73
    2Lipoprotein metabolism
    Lipoprotein metabolism0.57
    Lipid digestion, mobilization, and transport0.56
    Chylomicron-mediated lipid transport0.57
    3Visual phototransduction
    Visual phototransduction0.48
    Diseases associated with visual transduction0.47
    Retinoid metabolism and transport0.48
    4Metabolism
    Metabolism0.40
    Metabolism of lipids and lipoproteins0.34
    5Binding and Uptake of Ligands by Scavenger Receptors
    Binding and Uptake of Ligands by Scavenger Receptors0.63

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for APOB
        Selected targets of C/EBPbeta
    Selected targets of HNF1
    Selected targets of C/EBPalpha


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

    5/20        Reactome Pathways for APOB (see all 20)
        Diseases associated with visual transduction
    Scavenging by Class H Receptors
    Metabolism
    Platelet homeostasis
    Chylomicron-mediated lipid transport

    1 PharmGKB Pathway for APOB
        Statin Pathway, Pharmacodynamics

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


    APOB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for APOB

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

    5/64 Interacting proteins for APOB (P041143 ENSP000002332424) via UniProtKB, MINT, STRING, and/or I2D (see all 64)
    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): 5/41 biological process terms (GO ID links to tree view) (see all 41):    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 ----

    APOB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    APOB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    10/121 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)

    1 PharmGKB related drug/compound annotation for APOB gene    About this table
    Drug/compound PharmGKB Annotation
    irbesartanCA  

    Search CenterWatch for drugs/clinical trials and news about APOB

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat APOB
    1 QIAGEN miScript miRNA Assays for microRNA that regulate APOB:
    hsa-miR-548p
    SwitchGear 3'UTR luciferase reporter plasmidAPOB 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for APOB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APOB
    Clone
    Products:
         
    OriGene clones in human, mouse for APOB (see all 4)
    OriGene ORF clones in mouse, rat for APOB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: APOB (NM_000384)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for APOB
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat APOB
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for APOB
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat APOB
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APOB
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APOB

    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 

    24/273 AceView cDNA sequences (see all 273):

    CB162314 M31030 CB155993 BG567607 AI133683 AI052151 CB164518 BX955713 
    BX503399 BX495602 AV647769 AI061648 BX955714 BX495030 BG567045 AV649820 
    BX955720 D11914 BX482006 W80735 BX494785 AI338129 CB157220 CB162465 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    APOB expression in normal human tissues (normalized intensities)      APOB embryonic expression: see
    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 
     5/14 selected tissues (see all 14) fully expand
     
     Intestine (Gastrointestinal Tract)    fully expand to see all 4 entries
             small intestine ; glandular cells   
             small intestine   
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Midgut
             Primitive gut tube-like cells ( A scalable, suspension protocol for derivation of...
     
     Epithelium (Uncategorized)    fully expand to see all 2 entries
             oral mucosa ; squamous epithelial cells   
     
     Liver (Hepatobiliary System)
             Human Hepatocyte (HH)   
     
     Kidney (Urinary System)
             kidney ; cells in glomeruli   

    See APOB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for APOB

    SOURCE GeneReport for Unigene cluster: Hs.120759
        SABiosciences Expression via Pathway-Focused PCR Arrays including APOB: 
              Atherosclerosis in human mouse rat
              Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat
              Fatty Liver in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for APOB
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat APOB
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APOB
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APOB
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOB

    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for APOB gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apob1 , 5 apolipoprotein B1, 5 78.73(n)1
    71.06(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) 61.41(n)
    50.76(a)
      396535  NM_001044633.1  NP_001038098.1 
    lizard
    (Anolis carolinensis)
    Reptilia APOB6
    Uncharacterized protein
    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
    --
    15(a)
    13(a)
    possible ortholog
    possible ortholog
    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)
    About This Section
    Paralogs for APOB gene
    LOC4004992  

    APOB for paralogs           About GeneDecksing



    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1589 SNPs in APOB are shown (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
    ----------
    VAR_0226104
    Familial hypobetalipoproteinemia 1 (FHBL1)4--see VAR_0226102 R W mis40--------
    VAR_0357954
    A colorectal cancer sample4--see VAR_0357952 F C mis40--------
    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
    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--------
    VAR_0615584
    ----see VAR_0615582 Y C mis40--------
    VAR_0672814
    ----see VAR_0672812 I V mis40--------
    VAR_0689114
    ----see VAR_0689112 E D mis40--------

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 107730   
    OMIM disorders: 144010  
    UniProtKB/Swiss-Prot: APOB_HUMAN, P04114
  • Familial hypobetalipoproteinemia 1 (FHBL1) [MIM:107730]: 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
  • 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

  • 20/159 diseases for APOB (see all 159):    About MalaCards
    hypobetalipoproteinemia    hypercholesterolemia, due to ligand-defective apo b    familial hypercholesterolemia type b    defective apolipoprotein b-100
    abetalipoproteinemia    carotid artery disease    chylomicron retention disease    lipid metabolism disorder
    familial combined hyperlipoproteinemia    hypercholesterolemia    familial combined hyperlipidemia    ischemic heart disease
    lipoprotein glomerulopathy    familial hypercholesterolemia    norum disease    exencephaly
    familial hypertriglyceridemia    peripheral vascular disease    avascular necrosis of the femoral head    gallbladder disease

    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

    APOB for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/94 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)
    About This Section

    PubMed articles for APOB gene, integrated from 9 sources (see all 2869):
    (articles sorted by number of sources associating them with APOB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (1989)
    2. 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. (2009)
    3. 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. (2008)
    4. Apolipoprotein E and apolipoprotein B genotypes and risk for spina bifida. (PubMed id 12397634)1, 4, 9 Volcik K.A....Finnell R.H. (2002)
    5. Apolipoprotein B (APOB) gene polymorphism in patients with gallbladder disease. (PubMed id 17350490)1, 4, 9 Kurzawski M....Drozdzik M. (2007)
    6. 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. (2009)
    7. Molecular characterization of Polish patients with fa milial hypercholesterolemia: novel and recurrent LDLR mutations. (PubMed id 20145306)1, 4, 9 Chmara M....Pronicka E. (2010)
    8. 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....Pocovi M. (2008)
    9. Polymorphisms in apolipoprotein B and risk of ischemic stroke. (PubMed id 17595251)1, 4, 9 Benn M....Tybjaerg-Hansen A. (2007)
    10. Association of polymorphisms at restriction enzyme recognition sites of apolipoprotein B and E gene with dyslipidemia in children undergoing primary nephrotic syndrome. (PubMed id 18512131)1, 4, 9 Hu P....Li M.F. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 338 HGNC: 603 AceView: APOB Ensembl:ENSG00000084674 euGenes: HUgn338
    ECgene: APOB Kegg: 338 H-InvDB: APOB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for APOB Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/APOB
    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.)
    About This Section
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     Browse Small Molecules at EMD Millipore
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     EMD Millipore Purified and/or Recombinant APOB Protein
     Browse Kits and Assays available from EMD Millipore
     Browse for Gene Knock-down Tools from EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of APOB
     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Antibodies for APOB (Apolipoprotein B100/ApoB100)   Browse Cell Culture Products  
     ELISAs for APOB (Apolipoprotein B/ApoB)   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     OriGene Antibodies for APOB   OriGene RNAi products in human, mouse, rat for APOB  
     Browse OriGene qPCR primer pairs and template standards   Browse OriGene Protein Over-expression Lysates  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for APOB  
     OriGene qSTAR qPCR primer pairs in human, mouse for APOB   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for APOB   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for APOB   OriGene Custom Protein Services for APOB  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat APOB
     QIAGEN SeqTarget long-range PCR primers for resequencing APOB
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat APOB
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat APOB
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat APOB
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat APOB
     GenScript Custom Purified and Recombinant Proteins Services for APOB GenScript cDNA clones with any tag delivered in your preferred vector for APOB
     GenScript Custom Assay Services for APOB GenScript Superior Antibodies for APOB
     GenScript Custom overexpressing Cell Line Services for APOB CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in APOB promoter
     Search Chromatin IP Primers for APOB
     RT2 qPCR Primer Assay in human, mouse, rat APOB
     GNC Network for APOB
     SABiosciences PCR Arrays including human, mouse, rat APOB
     Search Tocris compounds for APOB
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     Browse Sino Biological cDNA Clones
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     APOB antibodies
     APOB proteins
     Antibodies for APOB
     See all of Abcam's Antibodies, Kits and Proteins for APOB
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Proteins for APOB
     Antibodies for APOB
     ELISAs for APOB
     CLIAs for APOB
     Search LifeMap BioReagents cell lines for APOB
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for APOB
     SwitchGear 3'UTR luciferase reporter plasmids for APOB
     Browse SwitchGear Promoter luciferase reporter plasmids for APOB
     ThermoFisher Antibody for APOB
     Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat APOB
     inGenious Targeting Laboratory - Custom generated mouse model solutions for APOB
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for APOB
    Customized:
     lentivirus for stable overexpression
     lentivirus expression plasmids for stable overexpression
     adenovirus for overexpression
     LSBio Antibodies in human, mouse, rat for APOB
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      APOB gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4