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Aliases for APOB Gene

Aliases for APOB Gene

  • Apolipoprotein B 2 3
  • Apolipoprotein B (Including Ag(X) Antigen) 2 3
  • Apo B-100 3 4
  • LDLCQ4 3 6
  • FLDB 3 6
  • Apolipoprotein B-100 3
  • Apolipoprotein B48 3
  • Mutant Apo B 100 3
  • ApoB-100 3
  • ApoB-48 3

External Ids for APOB Gene

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 defective apolipoprotein b-100. Among its related pathways are Signaling by GPCR and Disease. GO annotations related to this gene include protein heterodimerization activity and enzyme binding.

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

Genomic Location for APOB Gene

Start:
21,001,429 bp from pter
End:
21,044,073 bp from pter
Size:
42,645 bases
Orientation:
Minus strand

Genomic View for APOB Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for APOB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for APOB Gene

Regulatory Elements 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.
    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.
  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn34, Asn185, Asn983, Asn1368, Asn1377, Asn1523, Asn2239, Asn2560, Asn2779, Asn2982, Asn3101, Thr3220, Asn3224, Asn3336, Asn3358, Asn3411, Asn3465, Asn3895, Asn4237, and Asn4431

Other Protein References for APOB Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for APOB Gene

Domains for APOB Gene

Gene Families for APOB Gene

HGNC:

UniProtKB/Swiss-Prot:

APOB_HUMAN
Domain:
  • Contains 1 vitellogenin domain.:
    • P04114
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).

Gene Ontology (GO) - Molecular Function for APOB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005319 lipid transporter activity --
GO:0005488 binding --
GO:0005515 protein binding IPI 16203724
GO:0005543 phospholipid binding IDA 7126555
GO:0008201 heparin binding IDA 16233946
genes like me logo Genes that share ontologies with APOB: view
genes like me logo Genes that share phenotypes with APOB: view

Animal Models for APOB Gene

MGI Knock Outs for APOB:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
extracellular 5
cytosol 4
endoplasmic reticulum 4
endosome 4
plasma membrane 4
golgi apparatus 2
nucleus 2
peroxisome 2
lysosome 1
mitochondrion 1
vacuole 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 --
GO:0005769 early endosome TAS --
GO:0005783 endoplasmic reticulum --
genes like me logo Genes that share ontologies with APOB: view

Pathways for APOB Gene

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

Pathways by source for APOB Gene

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 --
GO:0006642 triglyceride mobilization IEA --
GO:0006869 lipid transport --
genes like me logo Genes that share ontologies with APOB: view

Compounds for APOB Gene

(2) HMDB Compounds for APOB Gene

Compound Synonyms Cas Number PubMed IDs
Atorvastatin
  • Atorvastatin acid
134523-00-5
Heparin
  • Arteven
9005-49-6

(121) Novoseek inferred chemical compound relationships for APOB Gene

Compound -log(P) Hits PubMed IDs
cholesterol 94.6 338
lipid 89.9 222
xbai 80.6 77
simvastatin 79.5 93
atorvastatin 77.3 86

(2) PharmGKB related drug/compound annotations for APOB Gene

Drug/compound Annotation
irbesartan CA
lomitapide
genes like me logo Genes that share compounds with APOB: view

Transcripts for APOB Gene

mRNA/cDNA for APOB Gene

Unigene Clusters for APOB Gene

Apolipoprotein B (including Ag(x) antigen):
Representative Sequences:

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

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:

Relevant External Links for APOB Gene

GeneLoc Exon Structure for
APOB
ECgene alternative splicing isoforms for
APOB

Expression for APOB Gene

mRNA expression in normal human tissues for APOB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Liver (46.8) and Small Intestine - Terminal Ileum (4.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for APOB Gene

SOURCE GeneReport for Unigene cluster for APOB Gene Hs.120759

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

Orthologs for APOB Gene

This gene was present in the common ancestor of animals.

Orthologs for APOB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia APOB 36
  • 99.24 (n)
  • 98.63 (a)
APOB 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia APOB 37
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia APOB 36
  • 83.81 (n)
  • 76.67 (a)
APOB 37
  • 76 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Apob 36
  • 78.83 (n)
  • 71.2 (a)
Apob 16
Apob 37
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 58 (a)
OneToMany
-- 37
  • 64 (a)
OneToMany
-- 37
  • 40 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia APOB 37
  • 62 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Apob 36
  • 78.81 (n)
  • 70.79 (a)
chicken
(Gallus gallus)
Aves APOB 36
  • 61.51 (n)
  • 50.93 (a)
APOB 37
  • 50 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia APOB 37
  • 47 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC64418 36
tropical clawed frog
(Silurana tropicalis)
Amphibia apob 36
  • 57.37 (n)
  • 46.57 (a)
zebrafish
(Danio rerio)
Actinopterygii APOB (4 of 4) 37
  • 23 (a)
OneToMany
apoba 36
  • 50.01 (n)
  • 36.11 (a)
apoba 37
  • 33 (a)
OneToMany
apobb 37
  • 29 (a)
OneToMany
apobl 37
  • 29 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG15828 37
  • 13 (a)
OneToMany
Rfabg 37
  • 16 (a)
OneToMany
Species with no ortholog for APOB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • 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 squirt (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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for APOB Gene

ENSEMBL:
Gene Tree for APOB (if available)
TreeFam:
Gene Tree for APOB (if available)

Paralogs for APOB Gene

No data available for Paralogs for APOB Gene

Variants for APOB Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for APOB Gene

P04114-APOB_HUMAN
Genetic variations in APOB define the low density lipoprotein cholesterol level quantitative trait locus 4 (LDLCQ4) [MIM:107730]

Sequence variations from dbSNP and Humsavar for APOB Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs693 Likely benign 21,009,323(-) GAGAC(C/T)CTAGA reference, synonymous-codon
rs488329 -- 21,013,610(+) TCACA(A/G)CAATA intron-variant
rs497166 -- 21,016,025(+) TGGCT(C/T)ACACC intron-variant
rs520354 -- 21,036,740(+) CAGAA(A/G)AGAAC intron-variant
rs531819 -- 21,040,767(+) GAAGG(G/T)TAACT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv873728 CNV Loss 21882294

Relevant External Links for APOB Gene

HapMap Linkage Disequilibrium report
APOB
Human Gene Mutation Database (HGMD)
APOB

Disorders for APOB Gene

(2) OMIM Diseases for APOB Gene (107730)

UniProtKB/Swiss-Prot

APOB_HUMAN
  • Hypobetalipoproteinemia, familial, 1 (FHBL1) [MIM:615558]: 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. {ECO:0000269 PubMed:12551903, ECO:0000269 PubMed:21981844}. Note=The disease is caused by mutations affecting the gene represented in this entry. Most cases of FHBL1 result from nonsense mutations in the APOB gene that lead to a premature stop codon, which generate prematurely truncated apo B protein products (PubMed:21981844). {ECO:0000269 PubMed:21981844}.
  • 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. {ECO:0000269 PubMed:21382890, ECO:0000269 PubMed:2563166, ECO:0000269 PubMed:7883971, ECO:0000269 PubMed:9259199}. 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.

(94) Novoseek inferred disease relationships for APOB Gene

Disease -log(P) Hits PubMed IDs
abetalipoproteinemia 91.1 84
hypobetalipoproteinemia 89.3 40
hypercholesterolemia familial 88 58
hyperlipidemia familial combined 87.4 35
apolipoprotein b-100, familial defective 86.4 11

Genatlas disease for APOB Gene

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

Relevant External Links for APOB

Genetic Association Database (GAD)
APOB
Human Genome Epidemiology (HuGE) Navigator
APOB
genes like me logo Genes that share disorders with APOB: view

Publications for APOB Gene

  1. Screening for mutations of the apolipoprotein B gene causing hypocholesterolemia. (PMID: 9490296) Leren T.P. … Berg K. (Hum. Genet. 1998) 3 4 23
  2. Apo B gene haplotype is associated with lipid profile of higher risk for coronary heart disease in Caucasian Brazilian men. (PMID: 11170229) Machado M.O. … Hirata R.D. (J. Clin. Lab. Anal. 2001) 3 23 49
  3. Apolipoprotein B gene polymorphisms: prevalence and impact on serum lipid concentrations in hypercholesterolemic individuals from Brazil. (PMID: 11074075) Cavalli S.A. … Hirata R.D. (Clin. Chim. Acta 2000) 3 23 49
  4. Candidate gene polymorphisms in cardiovascular disease: a comparative study of frequencies between a French and an Italian population. (PMID: 11341749) Pallaud C. … Visvikis S. (Clin. Chem. Lab. Med. 2001) 3 23 49
  5. The haplotype analyses using multiple markers of the apolipoprotein B gene in patients with coronary artery disease. (PMID: 11748351) Hong S.H. … Kim J.Q. (J. Korean Med. Sci. 2001) 3 23 49

Products for APOB Gene

Sources for APOB Gene

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