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Aliases for APOB Gene

Aliases for APOB Gene

  • Apolipoprotein B 2 3 5
  • Apolipoprotein B (Including Ag(X) Antigen) 2 3
  • Apolipoprotein B-100 3
  • Apolipoprotein B48 3
  • Apo B-100 4
  • ApoB-100 3
  • ApoB-48 3
  • LDLCQ4 3
  • FLDB 3

External Ids for APOB Gene

Previous GeneCards Identifiers for APOB Gene

  • GC02M021130
  • GC02M021317
  • GC02M021198
  • GC02M021135

Summaries for APOB Gene

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. Among its related pathways are Metabolism of fat-soluble vitamins and Innate Immune System. GO annotations related to this gene include binding and heparin binding. An important paralog of this gene is LOC400499.

UniProtKB/Swiss-Prot for APOB Gene

  • 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 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOB Gene

Genomics for APOB Gene

Regulatory Elements for APOB Gene

Enhancers for APOB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G021069 1 ENCODE 26.9 -26.6 -26598 2.2 FOXA2 ATF1 MLX ZFP64 ARID4B DMAP1 ZNF48 YY1 SLC30A9 GATA2 APOB GC02M021043 TDRD15
GH02G021038 0.8 ENCODE 31.4 +4.9 4934 1.3 SOX13 FOXA2 SAP130 MAX ZIC2 ZSCAN9 GATA4 FOXK2 POLR2A SCRT2 APOB GC02M021044 ENSG00000280390
GH02G021042 1.3 Ensembl ENCODE 18.3 +0.7 733 2.6 HNRNPUL1 FOXA2 MLX ZFP64 ARID4B DMAP1 YY1 SLC30A9 ZNF143 FOS APOB GC02M021044 ENSG00000280390
GH02G021095 0.9 ENCODE 25.5 -53.6 -53569 4.9 FOXA2 MLX ZSCAN9 RAD21 KAT2B YY1 CREM MIXL1 SP5 MXD4 APOB TDRD15 GC02M021043
GH02G021046 0.9 ENCODE 17.6 -3.2 -3179 2.2 PKNOX1 FOXA2 MLX ARID4B DMAP1 FEZF1 YY1 GATA2 MIER2 TBX21 APOB GC02M021043 TDRD15
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around APOB on UCSC Golden Path with GeneCards custom track

Genomic Location for APOB Gene

Chromosome:
2
Start:
20,999,218 bp from pter
End:
21,044,073 bp from pter
Size:
44,856 bases
Orientation:
Minus strand

Genomic View for APOB Gene

Genes around APOB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for APOB Gene

Proteins for APOB Gene

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

    Protein Symbol:
    P04114-APOB_HUMAN
    Recommended name:
    Apolipoprotein B-100
    Protein Accession:
    P04114
    Secondary Accessions:
    • O00502
    • P78479
    • P78480
    • P78481
    • Q13779
    • Q13785
    • Q13786
    • Q13787
    • Q13788
    • Q4ZG63
    • Q53QC8
    • Q7Z600
    • Q9UMN0

    Protein attributes for APOB Gene

    Size:
    4563 amino acids
    Molecular mass:
    515605 Da
    Quaternary structure:
    • Interacts with PCSK9 (PubMed:22580899). Interacts with MTTP (PubMed:26224785, PubMed:27206948).
    SequenceCaution:
    • Sequence=AAA51752.1; Type=Frameshift; Positions=942, 951, 1139, 1165, 1164, 1371, 1385; Evidence={ECO:0000305};

neXtProt entry for APOB Gene

Post-translational modifications for APOB Gene

  • Palmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle.
  • Glycosylation at posLast=3434, posLast=185185, Asn983, Asn1368, posLast=13771377, posLast=15231523, posLast=22392239, posLast=25602560, posLast=27792779, posLast=29822982, posLast=31013101, posLast=32203220, Asn3224, posLast=33363336, posLast=33583358, posLast=34113411, posLast=34653465, Asn3895, Asn4237, and posLast=44314431
  • Modification sites at PhosphoSitePlus

Other Protein References for APOB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for APOB (Apolipoprotein B100/ApoB100)
  • R&D Systems Antibodies for APOB (Apolipoprotein B/ApoB)

Assay Products

No data available for DME Specific Peptides for APOB Gene

Domains & Families for APOB Gene

No data available for UniProtKB/Swiss-Prot for APOB Gene

Function for APOB Gene

Molecular function for APOB Gene

GENATLAS Biochemistry:
apolipoprotein B (including Ag(x) antigen),major component of chylomicrons,VLDL,LDL with two forms B100 and B48 (intestine),3MARs,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
UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Induction:
Up-regulated in response to enterovirus 71 (EV71) infection (at protein level).

Gene Ontology (GO) - Molecular Function for APOB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005319 lipid transporter activity IEA --
GO:0005515 protein binding IPI 8245722
GO:0005543 phospholipid binding IDA 7126555
GO:0008201 heparin binding IDA 16233946
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with APOB: view
genes like me logo Genes that share phenotypes with APOB: view

Human Phenotype Ontology for APOB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for APOB Gene

MGI Knock Outs for APOB:

Animal Model Products

  • Taconic Biosciences Mouse Models for APOB

CRISPR Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for APOB Gene

Localization for APOB Gene

Subcellular locations from UniProtKB/Swiss-Prot for APOB Gene

Cytoplasm. Secreted.

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 APOB gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 5
cytosol 5
lysosome 5
endosome 5
golgi apparatus 3
cytoskeleton 2
peroxisome 2
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for APOB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space ISS 22261194
GO:0005737 cytoplasm IDA,IEA 22580899
GO:0005769 early endosome TAS --
GO:0005783 endoplasmic reticulum IEA --
genes like me logo Genes that share ontologies with APOB: view

Pathways & Interactions for APOB Gene

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

SIGNOR curated interactions for APOB Gene

Activates:

Gene Ontology (GO) - Biological Process for APOB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001523 retinoid metabolic process TAS --
GO:0001701 in utero embryonic development IEA --
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0006629 lipid metabolic process IEA --
GO:0006642 triglyceride mobilization IEA --
genes like me logo Genes that share ontologies with APOB: view

Drugs & Compounds for APOB Gene

(76) Drugs for APOB Gene - From: PharmGKB, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ezetimibe Approved Pharma Cholesterol transport inhibitor 279
Fenofibrate Approved Pharma 170
atorvastatin Approved Pharma Competitive, Inhibitor 0
Heparin Approved, Investigational Pharma Antagonist 848,265
Irbesartan Approved, Investigational Pharma Antagonist Angiotensin II inhibitor 102

(52) Additional Compounds for APOB Gene - From: Novoseek and HMDB