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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 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 hypercholesterolemia, due to ligand-defective apo b and hypobetalipoproteinemia. Among its related pathways are Platelet activation, signaling and aggregation and Signaling by GPCR. 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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for APOB Gene

Genomics for APOB Gene

Regulatory Elements for APOB Gene

Promoters for APOB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs 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. Interacts with MTTP (PubMed:26224785).
    SequenceCaution:
    • Sequence=AAA51752.1; Type=Frameshift; Positions=942, 951, 1139, 1165, 1164, 1371, 1385; Evidence={ECO:0000305};

neXtProt entry for APOB Gene

Proteomics data for APOB Gene at MOPED

Post-translational modifications for APOB Gene

  • Palmitoylated; structural requirement for proper assembly of the hydrophobic core of the lipoprotein particle.
  • Glycosylation at Asn 34, Asn 185, Asn 983, Asn 1368, Asn 1377, Asn 1523, Asn 2239, Asn 2560, Asn 2779, Asn 2982, Asn 3101, Thr 3220, Asn 3224, Asn 3336, Asn 3358, Asn 3411, Asn 3465, Asn 3895, Asn 4237, and Asn 4431
  • 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)

No data available for DME Specific Peptides for APOB Gene

Domains & Families for APOB Gene

Gene Families for APOB Gene

Graphical View of Domain Structure for InterPro Entry

P04114

UniProtKB/Swiss-Prot:

APOB_HUMAN :
  • Contains 1 vitellogenin domain.
Domain:
  • Contains 1 vitellogenin domain.
genes like me logo Genes that share domains with APOB: view

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).
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

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for APOB Gene COMPARTMENTS Subcellular localization image for APOB gene
Compartment Confidence
cytoskeleton 5
cytosol 5
endoplasmic reticulum 5
endosome 5
extracellular 5
golgi apparatus 5
plasma membrane 5
lysosome 2
nucleus 2
peroxisome 2
vacuole 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:0005769 early endosome TAS --
GO:0005783 endoplasmic reticulum IEA --
GO:0005794 Golgi apparatus IDA --
GO:0012506 vesicle membrane 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:0006629 lipid metabolic process IEA --
GO:0006869 lipid transport IEA --
GO:0007399 nervous system development IEA --
genes like me logo Genes that share ontologies with APOB: view

Drugs & Compounds for APOB Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
atorvastatin Approved Pharma Competitive, Inhibitor 0
Heparin Approved, Investigational Pharma Antagonist 719,239
Irbesartan Approved, Investigational Pharma Antagonist Angiotensin II inhibitor 97
Lomitapide Approved Pharma 0
Mipomersen Approved Pharma antisense 16

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