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, endo... See more...

Aliases for APOBR Gene

Aliases for APOBR Gene

  • Apolipoprotein B Receptor 2 3 4 5
  • Apolipoprotein B48 Receptor 2 3 4
  • APOB48R 2 3 4
  • Apolipoprotein B-100 Receptor 3 4
  • Apolipoprotein B100 Receptor 2 3
  • Apolipoprotein B-48 Receptor 3 4
  • APOB100R 2 3
  • ApoB-48R 3 4
  • APOBR 5

External Ids for APOBR Gene

Previous GeneCards Identifiers for APOBR Gene

  • GC16P028506

Summaries for APOBR Gene

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. Among its related pathways are Lipoprotein metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include very-low-density lipoprotein particle receptor activity.

UniProtKB/Swiss-Prot Summary for APOBR Gene

  • 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.

Additional gene information for APOBR Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for APOBR Gene

Genomics for APOBR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for APOBR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J028490 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 605.4 -0.8 -808 7.3 SP1 CREB1 GATAD2A PRDM10 ZNF629 REST TFE3 SIX5 LEF1 IKZF1 APOBR CLN3 ENSG00000261832 lnc-CLN3-1 lnc-IL27-1 SULT1A2 ATXN2L ENSG00000260853 SH2B1 SPNS1
GH16J028138 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 19.5 -353.4 -353363 5.6 ZNF692 POLR2A BACH1 RAD21 TCF12 IKZF2 RCOR1 SP1 ZNF24 TRIM22 XPO6 APOBR ATXN2L NFATC2IP SPNS1 ENSG00000260853 ENSG00000260367 ENSG00000200652 RNY1P10 SGF29
GH16J028157 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 21.9 -336.3 -336336 0.2 SCRT2 CEBPB ZBTB17 ZBTB33 MAX XPO6 APOBR SULT1A1 HSALNG0110474 lnc-GSG1L-6 GSG1L
GH16J028525 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 12.9 +32.9 32902 4.1 GATAD2A ATF7 REST TFE3 SOX13 NFKBIZ RCOR2 ZNF7 FOXA1 RXRB IL27 SULT1A2 TUFM CLN3 APOBR NPIPB7 SGF29 ENSG00000251417 lnc-APOBR-1 lnc-SGF29-2
GH16J028165 Enhancer 1 FANTOM5 ENCODE dbSUPER 16 -328.1 -328064 2.3 PRDM10 PRDM1 ZNF600 RFX1 JUND FOS ZBTB17 CTCF FOSL2 POLR2A XPO6 APOBR SULT1A1 lnc-GSG1L-6 HSALNG0110474 GSG1L
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around APOBR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for APOBR

Genomic Locations for APOBR Gene

Genomic Locations for APOBR Gene
chr16:28,494,643-28,498,970
(GRCh38/hg38)
Size:
4,328 bases
Orientation:
Plus strand
chr16:28,505,970-28,510,291
(GRCh37/hg19)
Size:
4,322 bases
Orientation:
Plus strand

Genomic View for APOBR Gene

Genes around APOBR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
APOBR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for APOBR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOBR Gene

Proteins for APOBR Gene

  • Protein details for APOBR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q0VD83-APOBR_HUMAN
    Recommended name:
    Apolipoprotein B receptor
    Protein Accession:
    Q0VD83
    Secondary Accessions:
    • H3BU97
    • Q0VD81
    • Q8NC15
    • Q9NPJ9

    Protein attributes for APOBR Gene

    Size:
    1097 amino acids
    Molecular mass:
    115634 Da
    Quaternary structure:
    • Homodimer.

    Alternative splice isoforms for APOBR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for APOBR Gene

Post-translational modifications for APOBR Gene

  • 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).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for APOBR Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for APOBR Gene

Domains & Families for APOBR Gene

Gene Families for APOBR Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for APOBR Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for APOBR Gene

GenScript: Design optimal peptide antigens:
  • Apolipoprotein B-48 receptor (APOBR_HUMAN)
  • Placenta apolipoprotein B48 receptor type 2 (Q9NS13_HUMAN)
genes like me logo Genes that share domains with APOBR: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for APOBR Gene

Function for APOBR Gene

Molecular function for APOBR Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for APOBR Gene

Gene Ontology (GO) - Molecular Function for APOBR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030228 lipoprotein particle receptor activity IEA --
GO:0030229 very-low-density lipoprotein particle receptor activity IBA 21873635
genes like me logo Genes that share ontologies with APOBR: view
genes like me logo Genes that share phenotypes with APOBR: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOBR

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for APOBR Gene

Localization for APOBR Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOBR Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for APOBR gene
Compartment Confidence
plasma membrane 4
extracellular 4
nucleus 3
cytosol 2
mitochondrion 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for APOBR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA,HDA 19946888
GO:0034361 very-low-density lipoprotein particle IEA --
GO:0034362 low-density lipoprotein particle IEA --
GO:0042627 chylomicron IEA --
genes like me logo Genes that share ontologies with APOBR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for APOBR Gene

Pathways & Interactions for APOBR Gene

genes like me logo Genes that share pathways with APOBR: view

Interacting Proteins for APOBR Gene

Gene Ontology (GO) - Biological Process for APOBR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006641 triglyceride metabolic process IBA 21873635
GO:0006869 lipid transport IEA --
GO:0006897 endocytosis IEA --
GO:0008202 steroid metabolic process IEA --
genes like me logo Genes that share ontologies with APOBR: view

No data available for SIGNOR curated interactions for APOBR Gene

Drugs & Compounds for APOBR Gene

(8) Drugs for APOBR Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Copper Approved, Investigational Pharma Target 249
Tocofersolan Approved Pharma Transporter, substrate 0
Tocopherol Approved, Investigational Pharma Transporter 9,535
Zinc Approved, Investigational Pharma Target 1594
zinc acetate Approved, Investigational Pharma Target 0
genes like me logo Genes that share compounds with APOBR: view

Transcripts for APOBR Gene

mRNA/cDNA for APOBR Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for APOBR

Alternative Splicing Database (ASD) splice patterns (SP) for APOBR Gene

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

Relevant External Links for APOBR Gene

GeneLoc Exon Structure for
APOBR

Expression for APOBR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for APOBR Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

  • Blood (Hematopoietic System)

mRNA differential expression in normal tissues according to GTEx for APOBR Gene

This gene is overexpressed in Whole Blood (x32.8), Spleen (x4.6), and Colon - Transverse (x4.5).

Protein differential expression in normal tissues from HIPED for APOBR Gene

This gene is overexpressed in Peripheral blood mononuclear cells (20.2), Lavage (14.0), and Monocytes (13.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for APOBR Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for APOBR

SOURCE GeneReport for Unigene cluster for APOBR Gene:

Hs.200333

mRNA Expression by UniProt/SwissProt for APOBR Gene:

Q0VD83-APOBR_HUMAN
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.

Evidence on tissue expression from TISSUES for APOBR Gene

  • Liver(4.3)
  • Intestine(2.3)
  • Blood(2.2)
genes like me logo Genes that share expression patterns with APOBR: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for APOBR Gene

Orthologs for APOBR Gene

This gene was present in the common ancestor of mammals.

Orthologs for APOBR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia APOBR 30 31
  • 98.39 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia APOBR 30 31
  • 77.03 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia APOBR 30 31
  • 70.48 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Apobr 30
  • 68.76 (n)
Mouse
(Mus musculus)
Mammalia Apobr 30 17 31
  • 66.1 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia APOBR 31
  • 52 (a)
OneToOne
Species where no ortholog for APOBR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for APOBR Gene

ENSEMBL:
Gene Tree for APOBR (if available)
TreeFam:
Gene Tree for APOBR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for APOBR: view image

Paralogs for APOBR Gene

(1) SIMAP similar genes for APOBR Gene using alignment to 1 proteins:

  • APOBR_HUMAN
genes like me logo Genes that share paralogs with APOBR: view

No data available for Paralogs for APOBR Gene

Variants for APOBR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for APOBR Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
752125 Likely Benign: not provided 28,495,986(+) C/A SYNONYMOUS_VARIANT
768769 Benign: not provided 28,496,076(+) TGGGACAGCCTCAGGA INFRAME_DELETION
779012 Benign: not provided 28,497,461(+) A/C MISSENSE_VARIANT
rs180743 - p.Pro428Ala

Additional dbSNP identifiers (rs#s) for APOBR Gene

Structural Variations from Database of Genomic Variants (DGV) for APOBR Gene

Variant ID Type Subtype PubMed ID
esv2758640 CNV gain+loss 17122850
nsv1059555 CNV gain 25217958
nsv509608 CNV insertion 20534489
nsv833180 CNV loss 17160897
nsv9415 CNV gain 18304495

Variation tolerance for APOBR Gene

Residual Variation Intolerance Score: 93.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.88; 89.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for APOBR Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOBR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for APOBR Gene

Disorders for APOBR Gene

No disorders were found for APOBR Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for APOBR Gene

Publications for APOBR Gene

  1. A macrophage receptor for apolipoprotein B48: cloning, expression, and atherosclerosis. (PMID: 10852956) Brown ML … Gianturco SH (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 4 23
  2. Association of nucleotide variations in the apolipoprotein B48 receptor gene (APOB48R) with hypercholesterolemia. (PMID: 15830122) Fujita Y … Emi M (Journal of human genetics 2005) 3 4 23
  3. Pitavastatin inhibits remnant lipoprotein-induced macrophage foam cell formation through ApoB48 receptor-dependent mechanism. (PMID: 15591219) Kawakami A … Yoshida M (Arteriosclerosis, thrombosis, and vascular biology 2005) 3 4
  4. PPAR(alpha) and PPAR(gamma) activators suppress the monocyte-macrophage apoB-48 receptor. (PMID: 12700342) Haraguchi G … Bradley WA (Journal of lipid research 2003) 4 23
  5. A family with hypothyroidism caused by fatty acid synthase and apolipoprotein B receptor mutations. (PMID: 30272292) Sun J … Jiang Q (Molecular medicine reports 2018) 3

Products for APOBR Gene

Sources for APOBR Gene