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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 17.5 -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)

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

Flow Cytometry 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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Triglycerides Group B
  • 1-Myristoyl-2-myristoyl-3-pentadecanoyl-glycerol
  • 1-Tetradecanoyl-2-tetradecanoyl-3-pentadecanoyl-glycerol
  • TAG(14:0/14:0/15:0)
  • TAG(43:0)
  • TG(43:0)
555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7
Triglycerides Group C
  • 1-Stearoyl-2-stearoyl-3-stearoyl-glycerol
  • TAG(18:0/18:0/18:0)
  • TAG(54:0)
  • TG(18:0/18:0/18:0)
  • TG(54:0)

(1) ApexBio Compounds for APOB Gene

Compound Action Cas Number
Ezetimibe Cholesterol transport inhibitor 163222-33-1
genes like me logo Genes that share compounds with APOB: view

Transcripts for APOB Gene

mRNA/cDNA for APOB Gene

(1) REFSEQ mRNAs :
(27) Additional mRNA sequences :
(273) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for APOB Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x46.8) and Small Intestine - Terminal Ileum (x4.1).

Protein differential expression in normal tissues from HIPED for APOB Gene

This gene is overexpressed in Serum (25.8), Synovial fluid (18.1), Plasma (10.5), and Monocytes (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for APOB Gene



Protein tissue co-expression partners for APOB Gene

NURSA nuclear receptor signaling pathways regulating expression of APOB Gene:

APOB

SOURCE GeneReport for Unigene cluster for APOB Gene:

Hs.120759

Evidence on tissue expression from TISSUES for APOB Gene

  • Gall bladder(5)
  • Liver(5)
  • Intestine(4.7)
  • Bone marrow(4.1)
  • Blood(4)
  • Adrenal gland(3.6)
  • Kidney(3.4)
  • Lung(3.4)
  • Heart(3)
  • Muscle(2.5)
  • Pancreas(2.1)
  • Skin(2.1)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for APOB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
Thorax:
  • heart
Abdomen:
  • duodenum
  • intestine
  • liver
  • small intestine
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with APOB: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for APOB Gene

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 34 35
  • 99.24 (n)
dog
(Canis familiaris)
Mammalia APOB 34 35
  • 83.81 (n)
mouse
(Mus musculus)
Mammalia Apob 34 16 35
  • 78.83 (n)
rat
(Rattus norvegicus)
Mammalia Apob 34
  • 78.81 (n)
cow
(Bos Taurus)
Mammalia APOB 35
  • 73 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 64 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
-- 35
  • 40 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia APOB 35
  • 62 (a)
OneToOne
chicken
(Gallus gallus)
Aves APOB 34 35
  • 61.51 (n)
lizard
(Anolis carolinensis)
Reptilia APOB 35
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia apob 34
  • 57.37 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC64418 34
zebrafish
(Danio rerio)
Actinopterygii apoba 34 35
  • 50.01 (n)
apobb 35
  • 29 (a)
OneToMany
apobl 35
  • 29 (a)
OneToMany
APOB (4 of 4) 35
  • 23 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Rfabg 35
  • 16 (a)
OneToMany
CG15828 35
  • 13 (a)
OneToMany
Species where no ortholog for APOB was found in the sources mined by GeneCards:
  • 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

Paralogs for APOB Gene

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

Variants for APOB Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for APOB Gene

APOB_HUMAN-P04114
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
rs12713559 Pathogenic, Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010] 21,006,196(-) TCCAA(C/T)GCATA reference, missense
rs5742904 Pathogenic, Familial ligand-defective apolipoprotein B-100 (FDB) [MIM:144010] 21,006,288(-) CACAC(A/G)GTCTT reference, missense
VAR_022610 Hypobetalipoproteinemia, familial, 1 (FHBL1) [MIM:615558]
VAR_035795 A colorectal cancer sample
VAR_076539 Hypobetalipoproteinemia, familial, 1 (FHBL1) [MIM:615558]

Variation tolerance for APOB Gene

Residual Variation Intolerance Score: 18.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 24.16; 99.62% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for APOB Gene

Human Gene Mutation Database (HGMD)
APOB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
APOB

No data available for Structural Variations from Database of Genomic Variants (DGV) for APOB Gene

Disorders for APOB Gene

MalaCards: The human disease database

(67) MalaCards diseases for APOB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypobetalipoproteinemia
  • familial hypobetalipoproteinemia 1
hypercholesterolemia, due to ligand-defective apo b
  • familial ligand-defective apolipoprotein b-100
abetalipoproteinemia
  • familial hypobetalipoproteinemia
homozygous familial hypercholesterolemia
  • hofh
hypercholesterolemia, familial
  • hypercholesterolemia, familial, modifier of
- elite association - COSMIC cancer census association via MalaCards
Search APOB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

APOB_HUMAN
  • 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.
  • 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, ECO:0000269 PubMed:27206948}. 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}.
  • Note=Defects in APOB associated with defects in other genes (polygenic) can contribute to hypocholesterolemia.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
APOB
genes like me logo Genes that share disorders with APOB: view

Publications for APOB Gene

  1. Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich T.M. … Kathiresan S. (Nature 2010) 3 4 46 64
  2. XbaI polymorphisms of apolipoprotein B gene: another risk factor of gallstone formation after radical gastrectomy. (PMID: 20503456) Liu F.L. … Niu W.X. (World J. Gastroenterol. 2010) 3 22 46 64
  3. Impact of genetic polymorphisms on platelet function and aspirin resistance. (PMID: 19923980) Pamukcu B. … Nisanci Y. (Blood Coagul. Fibrinolysis 2010) 3 22 46 64
  4. The environmental and genetic evidence for the association of hyperlipidemia and hypertension. (PMID: 19155782) Ruixing Y. … Shangling P. (J. Hypertens. 2009) 3 22 46 64
  5. Apolipoprotein B levels, APOB alleles, and risk of ischemic cardiovascular disease in the general population, a review. (PMID: 19200547) Benn M. (Atherosclerosis 2009) 3 22 46 64

Products for APOB Gene

Sources for APOB Gene

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