Aliases for APOB Gene
Aliases for APOB Gene
External Ids for APOB Gene
- HGNC: 603
- Entrez Gene: 338
- Ensembl: ENSG00000084674
- OMIM: 107730
- UniProtKB: P04114
Previous GeneCards Identifiers for APOB Gene
- GC02M021130
- GC02M021317
- GC02M021198
- GC02M021135
Summaries 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.
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
| 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 |
Regulatory Element Products
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
- Cytogenetic band:
-
- 2p24.1 by Ensembl
- 2p24.1 by Entrez Gene
- 2p24.1 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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};
Protein Expression 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
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for APOB
- R&D Systems Antibodies for APOB (Apolipoprotein B100/ApoB100)
- R&D Systems Antibodies for APOB (Apolipoprotein B/ApoB)
-
Custom Antibody ServicesOriGene Antibodies for APOB
- Novus Biologicals Antibodies for APOB
-
Abcam antibodies for APOB
-
Cloud-Clone Corp. Antibodies for APOB
- Invitrogen Antibodies for APOB
- antibodies-online Antibodies for APOB: See all 364
- GeneTex APOB antibody for APOB
-
Santa Cruz Biotechnology (SCBT) Antibodies for APOB
Protein Products
- EMD Millipore Purified and/or Recombinant APOB Protein
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-
Cloud-Clone Corp. Proteins for APOB
- antibodies-online Proteins for APOB: See all 28
- Search antibodies-online for peptides
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-
Abcam proteins for APOB
Assay Products
- R&D Systems ELISAs and other biochemical assays for APOB (Apolipoprotein B/ApoB)
- antibodies-online Kits for APOB: See all 21
-
Abcam assays for APOB
No data available for DME Specific Peptides for APOB Gene
Domains & Families for APOB Gene
Gene Families for APOB Gene
- HGNC:
Protein Domains for APOB Gene
Suggested Antigen Peptide Sequences for APOB Gene
Graphical View of Domain Structure for InterPro Entry
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).
| 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 | -- |
Phenotypes for APOB Gene
- MGI mutant phenotypes for APOB:
-
inferred from 11 alleles
- mortality/aging
- cellular phenotype
- growth/size/body region phenotype
- immune system phenotype
- muscle phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- reproductive system phenotype
- vision/eye phenotype
- embryo phenotype
- pigmentation phenotype
- liver/biliary system phenotype
- GenomeRNAi human phenotypes for APOB:
Animal Models for APOB Gene
Animal Model Products
- Cyagen custom Knockout/knockin (KOKI) mouse models for APOB
-
-
ViGene Biosciences lentiviral particle packaged cDNA for APOB gene
-
ViGene Biosciences ready-to-package AAV shRNAs for APOB gene
- Search ViGene Biosciences for APOB
CRISPR Products
-
OriGene CRISPR knockouts for APOB
-
Santa Cruz Biotechnology (SCBT) CRISPR for APOB
- GenScript: Design CRISPR guide RNA sequences for APOB
miRNA for APOB Gene
- miRTarBase miRNAs that target APOB
miRNA Products
- Search ViGene Biosciences for APOB
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for APOB
- Browse OriGene Inhibitory RNA Products For APOB
-
ViGene Biosciences ready-to-package AAV shRNAs for APOB gene
Clone Products
-
OriGene ORF clones in human for APOB
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for APOB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APOB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for APOB
-
ViGene Biosciences adenoviral particle packaged cDNA for APOB gene
-
ViGene Biosciences lentiviral particle packaged cDNA for APOB gene
-
ViGene Biosciences ready-to-package AAV shRNAs for APOB gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-10197) for APOB
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.
| 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 | -- |
Pathways & Interactions for APOB Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Lipoprotein metabolism | ||
| 2 | Binding and Uptake of Ligands by Scavenger Receptors | ||
| 3 | Statin Pathway |
.71
|
|
| 4 | Metabolism of fat-soluble vitamins | ||
| 5 | Folate Metabolism | ||
Pathways by source for APOB Gene
7 BioSystems pathways for APOB Gene
30 Reactome pathways for APOB Gene
1 PharmGKB pathway for APOB Gene
2 KEGG pathways for APOB Gene
1 R&D Systems pathway for APOB Gene
Interacting Proteins 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 | -- |
Drugs & Compounds for APOB Gene
| 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 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| Triglycerides Group B |
|
555-45-3, 30719-27-8, 2190-24-1, 18641-57-1, 56933-26-7 | ||||
| Triglycerides Group C |
|
(1) ApexBio Compounds for APOB Gene
| Compound | Action | Cas Number |
|---|---|---|
| Ezetimibe | Cholesterol transport inhibitor | 163222-33-1 |
Drug Products
- ApexBio compounds for APOB
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
CRISPR Products
-
OriGene CRISPR knockouts for APOB
-
Santa Cruz Biotechnology (SCBT) CRISPR for APOB
- GenScript: Design CRISPR guide RNA sequences for APOB
miRNA Products
- Search ViGene Biosciences for APOB
Inhibitory RNA Products
- Origene RNAi, shRNA, and siRNA products in human, mouse, rat for APOB
- Browse OriGene Inhibitory RNA Products For APOB
-
ViGene Biosciences ready-to-package AAV shRNAs for APOB gene
Clone Products
-
OriGene ORF clones in human for APOB
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- VectorBuilder custom plasmid, inducible vectors for APOB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APOB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-10197) for APOB
| 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: |
Expression for APOB Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Inner Cell Mass (Early Embryonic Tissues)
- NULL (Uncategorized)
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Endothelium (Cardiovascular System)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
- Gut Tube (Gastrointestinal Tract)
- Neural Tube (Nervous System)
- Intestine (Gastrointestinal Tract)
- Liver (Hepatobiliary System)
- Heart (Cardiovascular System)
-
Lung (Respiratory System)
mRNA differential expression in normal tissues according to GTEx for APOB Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for APOB Gene
NURSA nuclear receptor signaling pathways regulating expression of APOB Gene:
APOBSOURCE GeneReport for Unigene cluster for APOB Gene:
Hs.120759Evidence 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
- ectoderm
- endoderm
- mesoderm
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- skeleton
- brain
- ear
- eye
- eyelid
- face
- head
- heart
- duodenum
- intestine
- liver
- small intestine
- blood
- blood vessel
- peripheral nerve
- peripheral nervous system
- skin
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for APOB
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | APOB 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | APOB 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Apob 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Apob 34 |
|
||
| cow (Bos Taurus) |
Mammalia | APOB 35 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| -- 35 |
|
OneToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | APOB 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | APOB 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | APOB 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | apob 34 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC64418 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | apoba 34 35 |
|
||
| apobb 35 |
|
OneToMany | |||
| apobl 35 |
|
OneToMany | |||
| APOB (4 of 4) 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | Rfabg 35 |
|
OneToMany | |
| CG15828 35 |
|
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)
Paralogs for APOB Gene
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].
| 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] |
Relevant External Links for APOB Gene
No data available for Structural Variations from Database of Genomic Variants (DGV) for APOB Gene
Disorders for APOB Gene
(67) MalaCards diseases for APOB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| hypobetalipoproteinemia |
|
|
| hypercholesterolemia, due to ligand-defective apo b |
|
|
| abetalipoproteinemia |
|
|
| homozygous familial hypercholesterolemia |
|
|
| hypercholesterolemia, familial |
|
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
Relevant External Links for APOB
Publications for APOB Gene
- Biological, clinical and population relevance of 95 loci for blood lipids. (PMID: 20686565) Teslovich T.M. … Kathiresan S. (Nature 2010) 3 4 46 64
- 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
- Impact of genetic polymorphisms on platelet function and aspirin resistance. (PMID: 19923980) Pamukcu B. … Nisanci Y. (Blood Coagul. Fibrinolysis 2010) 3 22 46 64
- 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
- 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
- Browse Small Molecules at EMD Millipore
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for APOB
- EMD Millipore Purified and/or Recombinant APOB Protein
- Browse Kits and Assays available from EMD Millipore
- EMD Millipore genomic analysis products
- R&D Systems Antibodies for APOB (Apolipoprotein B100/ApoB100)
- R&D Systems Antibodies for APOB (Apolipoprotein B/ApoB)
- Browse R&D Systems for Human Recombinant Proteins
- R&D Systems ELISAs and other biochemical assays for APOB (Apolipoprotein B/ApoB)
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- Custom Antibody ServicesOriGene Antibodies for APOB
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For APOB
- GenScript: Next-day shipping cDNA ORF clone for APOB in any vector
- GenScript Custom Purified and Recombinant Proteins Services for APOB
- GenScript Custom Assay Services for APOB
- GenScript Custom overexpressing Cell Line Services for APOB
- GenScript: Design CRISPR guide RNA sequences for APOB
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for APOB
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Proteins
- Sino Biological Antibodies
- Sino Biological ELISA Kits and Pair Sets
- Sino Biological Cell Lysates
- Sino Biological qPCR Primers
- Sino Biological CRO Services for Proteins, Antibodies and Genes
- Sino Biological Transfection Reagents
- Novus Biologicals Antibodies for APOB
- Novus Biologicals proteins for APOB
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Abcam antibodies for APOB
- Abcam proteins for APOB
- Abcam assays for APOB
- Find your target
- Search knockout validated antibodies
- Browse monoclonal antibodies
- Cloud-Clone Corp. Antibodies for APOB
- Cloud-Clone Corp. Proteins for APOB
- antibodies-online Antibodies for APOB: See all 364
- antibodies-online Kits for APOB: See all 21
- antibodies-online Proteins for APOB: See all 28
- Search antibodies-online for peptides
- GeneTex APOB antibody for APOB
- Search GeneTex for Proteins for APOB
- ViGene Biosciences adenoviral particle packaged cDNA for APOB gene
- ViGene Biosciences lentiviral particle packaged cDNA for APOB gene
- ViGene Biosciences ready-to-package AAV shRNAs for APOB gene
- Search ViGene Biosciences for APOB
- Santa Cruz Biotechnology (SCBT) Antibodies for APOB
- Search Santa Cruz Biotechnology (SCBT) for APOB siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for APOB
- Horizon Cell Lines for APOB
- Cyagen custom Knockout/knockin (KOKI) mouse models for APOB
- VectorBuilder custom plasmid, inducible vectors for APOB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for APOB
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for APOB Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




