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APOBR Gene

protein-coding   GIFtS: 42
GCID: GC16P028506

Apolipoprotein B Receptor

  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)
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Aliases
Apolipoprotein B Receptor1 2     Apolipoprotein B-100 Receptor2 3
Apolipoprotein B48 Receptor1 2 3     Apolipoprotein B-48 Receptor2 3
APOB48R2 3 5     apoB-48R2 3
Apolipoprotein B100 Receptor1 2     APOB100R2

External Ids:    HGNC: 240871   Entrez Gene: 559112   Ensembl: ENSG000001847307   OMIM: 6052205   UniProtKB: Q0VD833   

Export aliases for APOBR gene to outside databases


(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 APOBR Gene:
Apolipoprotein B48 receptor is a macrophage receptor that binds to the apolipoprotein B48 of dietary triglyceride
(TG)-rich lipoproteins. This receptor may provide essential lipids, lipid-soluble vitamins and other nutrients to
reticuloendothelial cells. If overwhelmed with elevated plasma triglyceride, the apolipoprotein B48 receptor may
contribute to foam cell formation, endothelial dysfunction, and atherothrombogenesis. (provided by RefSeq, Jul
2008)

GeneCards Summary for APOBR Gene:
APOBR (apolipoprotein B receptor) is a protein-coding gene. Diseases associated with APOBR include fainting, and endotheliitis. GO annotations related to this gene include very-low-density lipoprotein particle receptor activity.

UniProtKB/Swiss-Prot: APOBR_HUMAN, Q0VD83
Function: Macrophage receptor that binds to the apolipoprotein B48 (APOB) of dietary triglyceride (TG)-rich
lipoproteins (TRL) or to a like domain of APOB in hypertriglyceridemic very low density lipoprotein (HTG-VLDL).
Binds and internalizes TRL when out of the context of the macrophage. May provide essential lipids to
reticuloendothelial cells. Could also be involved in foam cell formation with elevated TRL and remnant
lipoprotein (RLP). Mediates the rapid high-affinity uptake of chylomicrons (CM), HTG-VLDL, and trypsinized (tryp)
VLDL devoid of APOE in vitro in macrophages




(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:
NC_000016.10  NC_018927.2  NT_187260.1  
Regulatory elements:
   Search for regulatory transcription factor binding sites for APOBR
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAPOBR promoter sequence
   Search Chromatin IP Primers for APOBR

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


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

Entrez Gene cytogenetic band: 16p11   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P028506:  view genomic region     (about GC identifiers)

Start:
28,505,970 bp from pter      End:
28,510,291 bp from pter
Size:
4,322 bases      Orientation:
plus 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: APOBR_HUMAN, Q0VD83 (See protein sequence)
Recommended Name: Apolipoprotein B receptor  
Size: 1088 amino acids; 114874 Da
Subunit: Homodimer
Secondary accessions: H3BU97 Q0VD81 Q8NC15 Q9NPJ9
Alternative splicing: 4 isoforms:  Q0VD83-1   Q0VD83-2   Q0VD83-3   Q0VD83-4   (Gene prediction based on EST data)

Explore the universe of human proteins at neXtProt for APOBR: NX_Q0VD83

Explore proteomics data for APOBR at MOPED

Post-translational modifications: 

  • There are 2 forms in macrophages, the membrane-binding proteins 200 kDa (MBP 200) and 235 kDa (MBP 235), that can
    be reduced into a single active ligand-binding species with intermediate mobility (MBP 200R)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_061160.3  
    ENSEMBL proteins: 
     ENSP00000457539   ENSP00000327669   ENSP00000416094  

    APOBR Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR026158 ApolipoprotB_rcpt

    Graphical View of Domain Structure for InterPro Entry Q0VD83

    ProtoNet protein and cluster: Q0VD83


    APOBR 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: APOBR_HUMAN, Q0VD83
    Function: Macrophage receptor that binds to the apolipoprotein B48 (APOB) of dietary triglyceride (TG)-rich
    lipoproteins (TRL) or to a like domain of APOB in hypertriglyceridemic very low density lipoprotein (HTG-VLDL).
    Binds and internalizes TRL when out of the context of the macrophage. May provide essential lipids to
    reticuloendothelial cells. Could also be involved in foam cell formation with elevated TRL and remnant
    lipoprotein (RLP). Mediates the rapid high-affinity uptake of chylomicrons (CM), HTG-VLDL, and trypsinized (tryp)
    VLDL devoid of APOE in vitro in macrophages
    Induction: Suppressed significantly by PPARA and PPARG in THP-1 and blood-borne monocyte-macrophages. Decreased
    after pitavastatin treatment in peripheral blood macrophages and remnant lipoprotein (RLP)-induced foam cell
    formation

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030229very-low-density lipoprotein particle receptor activity IEA--
         
    APOBR for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for APOBR
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    1 qRT-PCR Assays for microRNA that regulate APOBR:
    hsa-miR-29b-1*
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    Inhib. RNA
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    (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
    APOBR_HUMAN, Q0VD83: Cell membrane; Peripheral membrane protein. Note=Binds monocyte-macrophage membrane. Thought
    to be anchored in the membrane through an interaction with an integral membrane protein

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0034361very-low-density lipoprotein particle IEA--
    GO:0034362low-density lipoprotein particle IEA--
    GO:0042627chylomicron IEA--

    APOBR for ontologies           About GeneDecksing


    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for APOBR
    Interactions:

        Search GeneGlobe Interaction Network for APOBR

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006641triglyceride metabolic process IEA--
    GO:0006869lipid transport IEA--
    GO:0008203cholesterol metabolic process IEA--

    APOBR for ontologies           About GeneDecksing



    (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 APOBR



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for APOBR gene: 
    NM_018690.3  

    Unigene Cluster for APOBR:

    Apolipoprotein B receptor
    Hs.200333  [show with all ESTs]
    Unigene Representative Sequence: NM_018690
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000564831(uc002dqb.2 uc010byg.2) ENST00000328423 ENST00000431282

    miRNA
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    1 qRT-PCR Assays for microRNA that regulate APOBR:
    hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidAPOBR 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat APOBR
      QuantiFast Probe-based Assays in human, mouse, rat APOBR

    Additional mRNA sequence: 

    AF141332.1 AF141334.1 AK025123.1 AK075085.1 BC119786.1 

    4 DOTS entries:

    DT.120696455  DT.102843689  DT.40210600  DT.91709689 

    Selected AceView cDNA sequences (see all 33):

    AW874392 AF141334 CD368319 BM976428 AK075085 BX644500 NM_018690 NM_182804 
    BX091811 BV198208 BI029476 AK025123 CA307418 AF141332 CA307455 AA348792 
    BG231934 CB146818 BE902198 BG986011 BM988197 BI016391 BI022728 BE538152 

    GeneLoc Exon Structure

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

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c
    SP1:                                                      
    SP2:                                -     -               
    SP3:                                                      


    ECgene alternative splicing isoforms for APOBR

    (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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    APOBR expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGCAGGCAA
    APOBR Expression
    About this image

    APOBR Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    APOBR Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.200333

    UniProtKB/Swiss-Prot: APOBR_HUMAN, Q0VD83
    Tissue specificity: Expressed in peripheral blood leukocytes > bone marrow = spleen > lymph node, and only faintly
    visible in appendix and thymus. Expressed in the brain, heart, kidney, liver, lung, pancreas, and placenta.
    Expressed primarily by reticuloendothelial cells: monocytes, macrophages, and endothelial cells. Expressed in
    atherosclerotic lesion foam cells

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    In Situ
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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 human and mouse.

    Orthologs for APOBR gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Apobr1 , 5 apolipoprotein B receptor1, 5 66.1(n)1
    50.85(a)1
      7 (69.17 cM)5
    1715041  NM_138310.11  NP_612183.11 
     1265849425 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for APOBR gene
    1 SIMAP similar gene for APOBR using alignment to 1 protein entry:     APOBR_HUMAN:
    APOB48R

    APOBR 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), 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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    Selected SNPs for APOBR (see all 215)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1512341,2
    C,F--28505660(-) GTATCC/GGCACC 1 -- us2k18Minor allele frequency- G:0.15EA NA 268
    rs1471795461,2
    C--28505703(+) ATGTCC/TCCTCC 1 -- us2k10--------
    rs1886937281,2
    --28505737(+) GTCTCA/CTGCTC 1 -- us2k10--------
    rs749493221,2
    C,F--28506109(+) GGGGCC/TTCACT 1 -- int11Minor allele frequency- T:0.05NA 120
    rs1932894001,2
    --28506135(+) TGGGGA/CCTCAC 1 -- int10--------
    rs1824409751,2
    --28506286(+) CTCCTC/TCTGCA 1 -- int10--------
    rs1868896031,2
    --28506313(+) TTTCAA/GATCCC 1 -- int10--------
    rs1438229571,2
    C--28506398(+) CTCCC-/CTCTCTC 1 -- int10--------
    rs1512331,2
    C,F--28506428(-) GTGCCG/AAGGGA 2 /L syn1 ese38Minor allele frequency- A:0.17NA MN NS WA EU 1040
    rs1916340261,2
    --28506470(+) CCCACA/TGTAGA 2 T syn10--------

    HapMap Linkage Disequilibrium report for APOBR (28505970 - 28510291 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for APOBR:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv509608CNV Insertion20534489
    nsv833180CNV Loss17160897
    nsv9415CNV Gain18304495
    nsv905688CNV Gain21882294
    dgv843e1CNV Complex17122850
    dgv842e1CNV Complex17122850

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605220    OMIM disorders: --

    6 diseases for APOBR:    About MalaCards
    fainting    endotheliitis    hypercholesterolemia    tonsillitis
    atherosclerosis    cerebritis


    APOBR for disorders           About GeneDecksing


    Export disorders for APOBR 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 APOBR gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with APOBR)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A macrophage receptor for apolipoprotein B48: cloning, expression, and atherosclerosis. (PubMed id 10852956)1, 2, 3, 9 Brown M.L....Gianturco S.H. (Proc. Natl. Acad. Sci. U.S.A. 2000)
    2. Association of nucleotide variations in the apolipoprotein B48 receptor gene (APOB48R) with hypercholesterolemia. (PubMed id 15830122)1, 2, 9 Fujita Y.... Emi M. (J. Hum. Genet. 2005)
    3. Pitavastatin inhibits remnant lipoprotein-induced macrophage foam cell formation through ApoB48 receptor-dependent mechanism. (PubMed id 15591219)1, 2 Kawakami A.... Yoshida M. (Arterioscler. Thromb. Vasc. Biol. 2005)
    4. PPAR(alpha) and PPAR(gamma) activators suppress the monocyte- macrophage apoB-48 receptor. (PubMed id 12700342)2, 9 Haraguchi G.... Bradley W.A. (J. Lipid Res. 2003)
    5. Analyses of non-synonymous obesity risk alleles in SH2B1 (rs7498665) and APOB48R (rs180743) in obese children and adolescents undergoing a 1-year lifestyle intervention. (PubMed id 23519644)1 Volckmar A.L....Hinney A. (amp 2013)
    6. Triglyceride-rich lipoprotein regulates APOB48 receptor gene expression in human THP-1 monocytes and macrophages. (PubMed id 22190030)1 Bermudez B....Muriana F.J. (J. Nutr. 2012)
    7. A high-fat meal promotes lipid-load and apolipoprotein B-48 receptor transcriptional activity in circulating monocytes. (PubMed id 21367954)1 Varela L.M....Muriana F.J. (Am. J. Clin. Nutr. 2011)
    8. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)2 Martin J.... Pennacchio L.A. (Nature 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 55911 HGNC: 24087 AceView: APOB48R Ensembl:ENSG00000184730 euGenes: HUgn55911
    ECgene: APOBR H-InvDB: APOBR

    (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 APOBR Pharmacogenomics, SNPs, Pathways

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

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

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