1: APOB apolipoprotein B[Homo sapiens]
Gene ID: 338, updated on 16-Mar-2025
SUMMARY
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Official Symbol: APOB (provided by HGNC)
Official full name: apolipoprotein B (provided by HGNC)
Primary source: HGNC:HGNC:603
See related: Ensembl:ENSG00000084674; MIM:107730; AllianceGenome:HGNC:603
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FLDB; FCHL2; LDLCQ4; apoB-48; apoB-100
Summary: This gene product is the main apolipoprotein of chylomicrons and low density
lipoproteins (LDL), and is the ligand for the LDL receptor. 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, Dec 2019]
Orthologsall (/gene/?Term=ortholog_gene_338[group]), mouse (https://www.ncbi.nlm.nih.gov/gene/238055)
GENOMIC CONTEXT
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Location: 2p24.1
Annotation release Status Assembly Chromosome Location
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RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (21001429..21044073, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (21034648..21077293, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (21224301..21266945, complement)
Exont count: 29
BIBLIOGRAPHY
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PHENOTYPES
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Review eQTL and phenotype association data in this region using PheGenI
http://www.ncbi.nlm.nih.gov/gap/PheGenI?chr=2&from=21044072&fromto=21044072+21001428&tab=0
Professional guidelines
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Professional guideline
ACMG 2013
The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in APOB that are pathogenic or expected to be pathogenic.
Guideline(http://www.acmg.net/docs/ACMG_Releases_Highly-Anticipated_Recommendations_on_Incidental_Findings_in_Clinical_Exome_and_Genome_Sequencing.pdf)
PubMed(/pubmed/23788249)
Associated conditions
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Description Tests
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Biological, clinical and population relevance of 95 loci for blood lipids.
GeneReviews: Not available
Bipolar disorder with comorbid binge eating history: A genome-wide association study implicates APOB.
GeneReviews: Not available
Common variants at 30 loci contribute to polygenic dyslipidemia.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia.
GeneReviews: Not available
Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish.
GeneReviews: Not available
Familial hypercholesterolemia
MedGen: C0020445 GeneReviews: Familial Hypercholesterolemia
Familial hypobetalipoproteinemia 1
MedGen: C4551990 OMIM: 615558 GeneReviews: APOB-Related Familial Hypobetalipoproteinemia
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.
GeneReviews: Not available
Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
GeneReviews: Not available
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
GeneReviews: Not available
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
GeneReviews: Not available
Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
GeneReviews: Not available
Genome-wide association of lipid-lowering response to statins in combined study populations.
GeneReviews: Not available
Genome-wide association study evaluating lipoprotein-associated phospholipase A2 mass and activity at baseline and after rosuvastatin therapy.
GeneReviews: Not available
Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
GeneReviews: Not available
Genome-wide association study pinpoints a new functional apolipoprotein B variant influencing oxidized low-density lipoprotein levels but not cardiovascular events: AtheroRemo Consortium.
GeneReviews: Not available
Genome-wide association study to identify single nucleotide polymorphisms (SNPs) associated with the development of erectile dysfunction in African-American men after radiotherapy for prostate cancer.
GeneReviews: Not available
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.
GeneReviews: Not available
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
GeneReviews: Not available
Hypercholesterolemia, autosomal dominant, type B
MedGen: C1704417 OMIM: 144010 GeneReviews: Familial Hypercholesterolemia
LDL-cholesterol concentrations: a genome-wide association study.
GeneReviews: Not available
Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
GeneReviews: Not available
Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
GeneReviews: Not available
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
GeneReviews: Not available
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
GeneReviews: Not available
Copy number response
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Copy number response
Triplosensitivity
No evidence available (Last evaluated 2020-04-09)
ClinGen Genome Curation Page(https://www.ncbi.nlm.nih.gov/projects/dbvar/ISCA/isca_gene.cgi?sym=APOB)Haploinsufficency
Sufficient evidence for dosage pathogenicity (Last evaluated 2020-04-09)
ClinGen Genome Curation Page(https://www.ncbi.nlm.nih.gov/projects/dbvar/ISCA/isca_gene.cgi?sym=APOB)
PubMed(/pubmed/1527480,27179706,2843815)
VARIATION
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See variants in ClinVar, //130.14.22.61/gene/clinvar/?term=APOB[gene]
See studies and variants in dbVar, //130.14.22.61/gene
See Variation Viewer (GRCh37.p13), //130.14.22.61/gene/variation/view/?q=338[geneid]&assm=GCF_000001405.25
See Variation Viewer (GRCh38), //130.14.22.61/gene/variation/view/?q=338[geneid]
HIV-1 INTERACTIONS
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Replication interactions
Interaction Pubs
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Knockdown of apolipoprotein B (APOB) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells 18976975
Go to the HIV-1, Human Interaction Database: //130.14.22.61/genome/viruses/retroviruses/hiv-1/interactions/
INTERACTION
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Description of Gene Interaction table
Product Interactant Other Gene Complex Source Pubs
-------------------------------------------------------------------------------------------------
P04114 P02647 APOA1 HPRD PMID: 7592581
P04114 P21810 BGN HPRD PMID: 12070165
P04114 P27797 CALR HPRD PMID: 12397072,10513896
P04114 P27824 CANX HPRD PMID: 14498830
P04114 P07900 HSP90AA1 HPRD PMID: 11333259
P04114 P14625 HSP90B1 HPRD PMID: 12397072
P04114 Heat shock 70 KD protein 1A HSPA1A HPRD PMID: 9252351
P04114 P11021 HSPA5 HPRD PMID: 12397072
P04114 P11142 HSPA8 HPRD PMID: 9694898
P04114 P01130 LDLR HPRD PMID: 12031600
P04114 P11150 LIPC HPRD PMID: 9685400
P04114 P98164 LRP2 HPRD PMID: 10330424
P04114 P55157 MTTP HPRD PMID: 11358959,9915855
P04114 P13667 PDIA4 HPRD PMID: 12397072,9694898
P04114 P23284 PPIB HPRD PMID: 12397072
P04114 Q9H9S3 SEC61A2 HPRD PMID: 9565615
P04114 P60468 SEC61B HPRD PMID: 9565615
Affinity Capture-MS
BioGRID:106835 BioGRID:114984 AATK BioGRID PMID: 35384245
Affinity Capture-MS
BioGRID:106835 BioGRID:107643 ACKR2 BioGRID PMID: 33961781
Cross-Linking-MS (XL-MS)
BioGRID:106835 BioGRID:106602 ACTN1 BioGRID PMID: 38334954,35575683
Affinity Capture-MS
BioGRID:106835 BioGRID:121224 AGPAT3 BioGRID PMID: 33961781
Two-hybrid
BioGRID:106835 BioGRID:106711 AKT2 BioGRID PMID: 21988832
Cross-Linking-MS (XL-MS)
BioGRID:106835 BioGRID:106715 ALB BioGRID PMID: 37343697
Affinity Capture-MS
BioGRID:106835 BioGRID:119959 ANLN BioGRID PMID: 26496610
Affinity Capture-Western; Cross-Linking-MS (XL-MS)
BioGRID:106835 BioGRID:106832 APOA1 BioGRID PMID: 37343697,28183703,19164805
Affinity Capture-Western
BioGRID:106835 BioGRID:106835 APOB BioGRID PMID: 19164805
Two-hybrid
BioGRID:106835 BioGRID:120856 ARFGAP1 BioGRID PMID: 21988832
Affinity Capture-MS
BioGRID:106835 BioGRID:127998 ARX BioGRID PMID: 26496610
Affinity Capture-MS
BioGRID:106835 BioGRID:128104 ASXL1 BioGRID PMID: 36180891
Affinity Capture-MS
BioGRID:106835 BioGRID:120543 ASXL2 BioGRID PMID: 36180891
Affinity Capture-MS
BioGRID:106835 BioGRID:123314 ASXL3 BioGRID PMID: 36180891
Affinity Capture-MS; Affinity Capture-Western; Co-localization
BioGRID:106835 BioGRID:107031 AUP1 BioGRID PMID: 33961781,28514442,28183703,26186194
Affinity Capture-MS
BioGRID:106835 BioGRID:114250 B3GALT2 BioGRID PMID: 26186194
Affinity Capture-MS
BioGRID:106835 BioGRID:116229 B4GAT1 BioGRID PMID: 33961781
Cross-Linking-MS (XL-MS)
BioGRID:106835 BioGRID:115437 BCAP31 BioGRID PMID: 37343697
Reconstituted Complex
BioGRID:106835 BioGRID:107102 BGN BioGRID PMID: 12070165
Affinity Capture-MS
BioGRID:106835 BioGRID:106827 BIRC3 BioGRID PMID: 30948266
Affinity Capture-MS
BioGRID:106835 BioGRID:107189 C5AR1 BioGRID PMID: 33961781
Affinity Capture-Western; Co-fractionation
BioGRID:106835 BioGRID:107250 CALCR BioGRID PMID: 12397072
Affinity Capture-RNA; Affinity Capture-Western
BioGRID:106835 BioGRID:107262 CALR BioGRID PMID: 10513896,9694898
Affinity Capture-Western
BioGRID:106835 BioGRID:107271 CANX BioGRID PMID: 14498830,9765244
Affinity Capture-MS
BioGRID:106835 BioGRID:123838 CCDC8 BioGRID PMID: 31343991
Reconstituted Complex
BioGRID:106835 BioGRID:107386 CD36 BioGRID PMID: 25555908
Affinity Capture-MS
BioGRID:106835 BioGRID:122740 CERS4 BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:114916 CIR1 BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:116290 CIT BioGRID PMID: 31586073
Affinity Capture-MS
BioGRID:106835 BioGRID:119366 CKLF BioGRID PMID: 28514442
Affinity Capture-MS
BioGRID:106835 BioGRID:107789 CRKL BioGRID PMID: 26496610
Affinity Capture-MS
BioGRID:106835 BioGRID:107894 CTSL BioGRID PMID: 34709727
Affinity Capture-MS
BioGRID:106835 BioGRID:114030 CUL3 BioGRID PMID: 37788672
Affinity Capture-MS
BioGRID:106835 BioGRID:115159 CUL7 BioGRID PMID: 31343991
Affinity Capture-MS
BioGRID:106835 BioGRID:108071 CYB5R3 BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:228946 Chmp6 BioGRID PMID: 26496610
Affinity Capture-Western
BioGRID:106835 BioGRID:122559 DERL1 BioGRID PMID: 22238364,19164805
Affinity Capture-MS
BioGRID:106835 BioGRID:108064 DHCR24 BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:108137 DPP4 BioGRID PMID: 34709727
Affinity Capture-MS
BioGRID:106835 BioGRID:4263556 E5 BioGRID PMID: 22810586
Affinity Capture-MS
BioGRID:106835 BioGRID:3509160 E5a BioGRID PMID: 22810586
Affinity Capture-MS
BioGRID:106835 BioGRID:108276 EGFR BioGRID PMID: 28065597,24189400
Affinity Capture-MS
BioGRID:106835 BioGRID:123637 ELOVL3 BioGRID PMID: 33961781
Proximity Label-MS
BioGRID:106835 BioGRID:114810 FADS2 BioGRID PMID: 30021884
Affinity Capture-MS; Affinity Capture-Western
BioGRID:106835 BioGRID:116806 FAF2 BioGRID PMID: 26186194,22238364
Affinity Capture-MS
BioGRID:106835 BioGRID:108474 FANCD2 BioGRID PMID: 31180492
Proximity Label-MS
BioGRID:106835 BioGRID:108609 FLT1 BioGRID PMID: 35384245
Proximity Label-MS
BioGRID:106835 BioGRID:108610 FLT3 BioGRID PMID: 35384245
Proximity Label-MS
BioGRID:106835 BioGRID:108597 FOXO1 BioGRID PMID: 36964488
Affinity Capture-MS
BioGRID:106835 BioGRID:108964 GJA1 BioGRID PMID: 35391932
Affinity Capture-MS
BioGRID:106835 BioGRID:125148 GNG8 BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:126087 GOLT1A BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:119931 GPR173 BioGRID PMID: 33961781
Proximity Label-MS
BioGRID:106835 BioGRID:109501 HRAS BioGRID PMID: 30639242
Reconstituted Complex
BioGRID:106835 BioGRID:109552 HSP90AA1 BioGRID PMID: 31273033
Affinity Capture-RNA; Affinity Capture-Western; Co-fractionation
BioGRID:106835 BioGRID:113036 HSP90B1 BioGRID PMID: 12397072,9694898
Affinity Capture-Western
BioGRID:106835 BioGRID:109541 HSPA5 BioGRID PMID: 19164805
Affinity Capture-MS
BioGRID:106835 BioGRID:114091 IFITM1 BioGRID PMID: 34709727
Affinity Capture-MS
BioGRID:106835 BioGRID:132416 IFITM5 BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:115418 KIF20A BioGRID PMID: 31586073
Affinity Capture-MS
BioGRID:106835 BioGRID:111636 KLK10 BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:128307 KRTCAP2 BioGRID PMID: 33961781
Proximity Label-MS
BioGRID:106835 BioGRID:110141 LDLR BioGRID PMID: 39499777
Reconstituted Complex
BioGRID:106835 BioGRID:110178 LIPC BioGRID PMID: 9685400
Affinity Capture-MS
BioGRID:106835 BioGRID:114893 LITAF BioGRID PMID: 33961781,28514442
Reconstituted Complex
BioGRID:106835 BioGRID:110219 LRP6 BioGRID PMID: 18948618
Affinity Capture-MS
BioGRID:106835 BioGRID:4383846 M BioGRID PMID: 34709727
Affinity Capture-MS
BioGRID:106835 BioGRID:113606 MALL BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:110317 MATN2 BioGRID PMID: 33961781
Biochemical Activity
BioGRID:106835 BioGRID:110358 MDM2 BioGRID PMID: 35524581
Affinity Capture-MS
BioGRID:106835 BioGRID:127170 MFSD4A BioGRID PMID: 28514442
Affinity Capture-Western; Co-localization
BioGRID:106835 BioGRID:110409 MIA2 BioGRID PMID: 27138255
Affinity Capture-Western; Co-localization
BioGRID:106835 BioGRID:131952 MIA3 BioGRID PMID: 27138255
Affinity Capture-MS
BioGRID:106835 BioGRID:110437 MLF1 BioGRID PMID: 26186194
Affinity Capture-Western; Two-hybrid
BioGRID:106835 BioGRID:110641 MTTP BioGRID PMID: 26224785,9915855
Affinity Capture-MS
BioGRID:106835 BioGRID:110694 MYC BioGRID PMID: 35013218
Affinity Capture-MS
BioGRID:106835 BioGRID:110698 MYCN BioGRID PMID: 35013218
Affinity Capture-MS
BioGRID:106835 BioGRID:110712 MYH9 BioGRID PMID: 26496610
Cross-Linking-MS (XL-MS)
BioGRID:106835 BioGRID:117715 MYOF BioGRID PMID: 37343697
Affinity Capture-MS
BioGRID:106835 BioGRID:136335 MZT1 BioGRID PMID: 26496610
Affinity Capture-MS
BioGRID:106835 BioGRID:112663 NEK4 BioGRID PMID: 25798074
Cross-Linking-MS (XL-MS)
BioGRID:106835 BioGRID:124855 NEXN BioGRID PMID: 37343697
Cross-Linking-MS (XL-MS)
BioGRID:106835 BioGRID:110904 NONO BioGRID PMID: 34349018
Affinity Capture-MS
BioGRID:106835 BioGRID:4383855 ORF1ab BioGRID PMID: 33845483
Affinity Capture-MS
BioGRID:106835 BioGRID:122309 P2RY12 BioGRID PMID: 28514442,26186194
Affinity Capture-MS
BioGRID:106835 BioGRID:115260 P2RY14 BioGRID PMID: 26186194
Affinity Capture-MS
BioGRID:106835 BioGRID:111068 P2RY2 BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:111114 PAX6 BioGRID PMID: 26496610
Affinity Capture-Western
BioGRID:106835 BioGRID:30941 PDI1 BioGRID PMID: 22190736
Affinity Capture-RNA; Affinity Capture-Western; Co-fractionation
BioGRID:106835 BioGRID:114966 PDIA4 BioGRID PMID: 12397072,9694898
Cross-Linking-MS (XL-MS)
BioGRID:106835 BioGRID:111251 PGK1 BioGRID PMID: 37343697
Affinity Capture-MS
BioGRID:106835 BioGRID:119318 PHF11 BioGRID PMID: 33961781
Affinity Capture-Western
BioGRID:106835 BioGRID:106635 PLIN2 BioGRID PMID: 22238364
Affinity Capture-Western; Co-fractionation
BioGRID:106835 BioGRID:111475 PPIB BioGRID PMID: 12397072
Two-hybrid
BioGRID:106835 BioGRID:115800 PRDX4 BioGRID PMID: 21988832
Affinity Capture-MS
BioGRID:106835 BioGRID:111105 PRKN BioGRID PMID: 35509820,35256949
Affinity Capture-MS
BioGRID:106835 BioGRID:109512 PRMT1 BioGRID PMID: 37554218
Co-fractionation
BioGRID:106835 BioGRID:115508 PSMD14 BioGRID PMID: 26344197
Affinity Capture-MS
BioGRID:106835 BioGRID:202049 Pcna BioGRID PMID: 26496610
Affinity Capture-MS; Affinity Capture-Western
BioGRID:106835 BioGRID:111822 RAD21 BioGRID PMID: 26496610,22145905
Affinity Capture-MS
BioGRID:106835 BioGRID:111831 RAF1 BioGRID PMID: 36244648
Affinity Capture-MS
BioGRID:106835 BioGRID:116262 RER1 BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:123968 RHBDD1 BioGRID PMID: 33961781
Cross-Linking-MS (XL-MS)
BioGRID:106835 BioGRID:112075 RPL30 BioGRID PMID: 34349018
Affinity Capture-MS
BioGRID:106835 BioGRID:112100 RPN2 BioGRID PMID: 33961781,28514442
Cross-Linking-MS (XL-MS)
BioGRID:106835 BioGRID:112108 RPS6 BioGRID PMID: 39358380,34349018
Cross-Linking-MS (XL-MS)
BioGRID:106835 BioGRID:112197 SAA2 BioGRID PMID: 37343697
Affinity Capture-MS
BioGRID:106835 BioGRID:115377 SCAMP2 BioGRID PMID: 33961781
Affinity Capture-Western
BioGRID:106835 BioGRID:31638 SEC61 BioGRID PMID: 17823116
Affinity Capture-Western
BioGRID:106835 BioGRID:118968 SEC61A1 BioGRID PMID: 9565615
Affinity Capture-Western
BioGRID:106835 BioGRID:116152 SEC61B BioGRID PMID: 9565615
Affinity Capture-Western
BioGRID:106835 BioGRID:120934 SELENOS BioGRID PMID: 19164805
Affinity Capture-MS
BioGRID:106835 BioGRID:123863 SLC10A7 BioGRID PMID: 33961781,28514442
Affinity Capture-MS
BioGRID:106835 BioGRID:112458 SLC18A1 BioGRID PMID: 26186194
Affinity Capture-MS
BioGRID:106835 BioGRID:112459 SLC18A2 BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:112461 SLC19A1 BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:125322 SLC22A9 BioGRID PMID: 28514442
Affinity Capture-MS
BioGRID:106835 BioGRID:112405 SLC2A2 BioGRID PMID: 28514442
Affinity Capture-MS
BioGRID:106835 BioGRID:123982 SLC37A3 BioGRID PMID: 33961781,28514442
Affinity Capture-MS
BioGRID:106835 BioGRID:126909 SLC38A6 BioGRID PMID: 26186194
Affinity Capture-MS
BioGRID:106835 BioGRID:118823 SLC43A3 BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:114403 SLC5A6 BioGRID PMID: 33961781
Two-hybrid
BioGRID:106835 BioGRID:110263 SMAD3 BioGRID PMID: 21988832
Affinity Capture-MS
BioGRID:106835 BioGRID:120692 SMPD3 BioGRID PMID: 33961781,28514442
Proximity Label-MS
BioGRID:106835 BioGRID:112587 SPTAN1 BioGRID PMID: 30021884
Affinity Capture-Western
BioGRID:106835 BioGRID:31786 SSA1 BioGRID PMID: 17823116
Affinity Capture-Western
BioGRID:106835 BioGRID:36075 SSE1 BioGRID PMID: 17823116
Affinity Capture-MS
BioGRID:106835 BioGRID:131953 STUM BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:114592 SYNGR1 BioGRID PMID: 33961781
Affinity Capture-Western
BioGRID:106835 BioGRID:124085 SYVN1 BioGRID PMID: 19164805
Affinity Capture-MS
BioGRID:106835 BioGRID:201092 Stmn1 BioGRID PMID: 26496610
Affinity Capture-MS
BioGRID:106835 BioGRID:112732 TACR1 BioGRID PMID: 33961781
Proximity Label-MS
BioGRID:106835 BioGRID:118878 TBK1 BioGRID PMID: 37506885
Affinity Capture-MS
BioGRID:106835 BioGRID:124428 TMEM128 BioGRID PMID: 33961781,28514442
Affinity Capture-MS
BioGRID:106835 BioGRID:121230 TMEM167B BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:117357 TMEM184B BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:128407 TMEM192 BioGRID PMID: 33545068
Affinity Capture-MS
BioGRID:106835 BioGRID:118868 TMEM208 BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:136224 TMEM41B BioGRID PMID: 30352685,28514442,26186194
Affinity Capture-MS
BioGRID:106835 BioGRID:568613 TMEM72 BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:112967 TMPO BioGRID PMID: 28902428
Affinity Capture-MS; Proximity Label-MS
BioGRID:106835 BioGRID:126334 TMPRSS11B BioGRID PMID: 34709727
Affinity Capture-MS
BioGRID:106835 BioGRID:121163 TMPRSS4 BioGRID PMID: 34709727
Affinity Capture-MS
BioGRID:106835 BioGRID:115602 TNIP1 BioGRID PMID: 36574265
Affinity Capture-MS
BioGRID:106835 BioGRID:114452 TOP3B BioGRID PMID: 34709727
Reconstituted Complex
BioGRID:106835 BioGRID:119925 TREM2 BioGRID PMID: 27477018
Proximity Label-MS
BioGRID:106835 BioGRID:106868 TRIM23 BioGRID PMID: 35844135
Affinity Capture-MS
BioGRID:106835 BioGRID:125596 TRIM6 BioGRID PMID: 31992359
Affinity Capture-MS
BioGRID:106835 BioGRID:113900 TRRAP BioGRID PMID: 35906200
Affinity Capture-MS
BioGRID:106835 BioGRID:121973 UBE2O BioGRID PMID: 36273042
Affinity Capture-MS
BioGRID:106835 BioGRID:127156 UBE2U BioGRID PMID: 33961781
Affinity Capture-MS
BioGRID:106835 BioGRID:119509 UCHL5 BioGRID PMID: 21800051
Affinity Capture-Western
BioGRID:106835 BioGRID:113258 VCP BioGRID PMID: 28183703,19164805,18550891
Affinity Capture-MS
BioGRID:106835 BioGRID:122463 YIPF2 BioGRID PMID: 26186194
Affinity Capture-MS
BioGRID:106835 BioGRID:117370 YIPF3 BioGRID PMID: 33961781,28514442
Affinity Capture-MS
BioGRID:106835 BioGRID:122935 ZDHHC11 BioGRID PMID: 33961781,28514442
Affinity Capture-MS
BioGRID:106835 BioGRID:125623 ZFYVE27 BioGRID PMID: 33961781,28514442
Affinity Capture-MS
BioGRID:106835 BioGRID:4383888 orf1ab BioGRID PMID: 34186245
GENERAL GENE INFO
-------------------------------------------------------------------------------------------------
Marker
RH68973 (e-PCR) Links:UniSTS:67077
APOB_711 (e-PCR) Links:UniSTS:276999
RH80663 (e-PCR) Links:UniSTS:89102
RH70400 (e-PCR) Links:UniSTS:72471
RH68521 (e-PCR) Links:UniSTS:21794
SHGC-34591 (e-PCR) Links:UniSTS:56355
SHGC-33615 (e-PCR) Links:UniSTS:51496
APOB (e-PCR), detects polymorphism Links:UniSTS:266032
GDB:185253 (e-PCR) Links:UniSTS:155441
GDB:185254 (e-PCR) Links:UniSTS:155442
SGC34589 (e-PCR) Links:UniSTS:45106
GDB:185282 (e-PCR) Links:UniSTS:155444
GDB:185295 (e-PCR) Links:UniSTS:155445
D2S2580 (e-PCR) Links:UniSTS:58171
RH45452 (e-PCR) Links:UniSTS:62271
GDB:181235 (e-PCR) Links:UniSTS:155203
GDB:193044 (e-PCR) Links:UniSTS:155738
SHGC-56579 (e-PCR) Links:UniSTS:45150
GDB:178354 (e-PCR) Links:UniSTS:154987
D2S2589 (e-PCR) Links:UniSTS:68980
SHGC-33670 (e-PCR) Links:UniSTS:55948
RH69077 (e-PCR) Links:UniSTS:69261
G44341 (e-PCR) Links:UniSTS:95128
GDB:171933 (e-PCR) Links:UniSTS:154779
GDB:681390 (e-PCR) Links:UniSTS:158620
RH70147 (e-PCR) Links:UniSTS:14246
GDB:179436 (e-PCR) Links:UniSTS:155047
GDB:177076 (e-PCR) Links:UniSTS:154826
GDB:177093 (e-PCR) Links:UniSTS:154830
RH69778 (e-PCR) Links:UniSTS:64981
GDB:177207 (e-PCR) Links:UniSTS:154838
GDB:182191 (e-PCR) Links:UniSTS:155360
GDB:182192 (e-PCR) Links:UniSTS:155361
GDB:631915 (e-PCR) Links:UniSTS:158444
Homology
Orthologs from Annotation Pipeline (/gene/?Term=ortholog_gene_338[group]):
Orthologs
Gene Ontology Provided by GOA (www.ebi.ac.uk/GOA)
Function GO ID Evidence
-------------------------------------------------------------------------------------------------
enables cholesterol transfer activity GO:0000000 -
enables cholesterol transfer activity GO:0000000 PMID: 15797858
enables heparin binding GO:0000000 PMID: 16233946
enables lipase binding GO:0000000 PMID: 9685400
enables low-density lipoprotein particle... GO:0000000 -
enables low-density lipoprotein particle... GO:0000000 PMID: 2563166,15797858
enables low-density lipoprotein particle... GO:0000000 PMID: 27477018
enables phospholipid binding GO:0000000 PMID: 7126555
enables protein binding GO:0000000 PMID: 8245722,16203724,21911577,22580899,24447298,25108285,26224785,27138255,27487388
enables receptor ligand activity GO:0000000 PMID: 27477018
Processs GO ID Evidence
-------------------------------------------------------------------------------------------------
involved_in artery morphogenesis GO:0000000 -
involved_in cellular response to lipopro... GO:0000000 PMID: 27477018
involved_in cholesterol efflux GO:0000000 -
involved_in cholesterol homeostasis GO:0000000 -
involved_in cholesterol homeostasis GO:0000000 PMID: 2563166
involved_in cholesterol metabolic proces... GO:0000000 PMID: 2563166
involved_in cholesterol transport GO:0000000 -
involved_in cholesterol transport GO:0000000 PMID: 2563166
involved_in establishment of localizatio... GO:0000000 -
involved_in fertilization GO:0000000 -
involved_in flagellated sperm motility GO:0000000 -
involved_in in utero embryonic developme... GO:0000000 -
involved_in lipoprotein biosynthetic pro... GO:0000000 -
involved_in lipoprotein catabolic proces... GO:0000000 -
involved_in lipoprotein transport GO:0000000 -
involved_in low-density lipoprotein part... GO:0000000 PMID: 2563166,15797858
involved_in low-density lipoprotein part... GO:0000000 PMID: 15797858
involved_in nervous system development GO:0000000 -
involved_in positive regulation of chole... GO:0000000 PMID: 19114110
involved_in positive regulation of gene ... GO:0000000 -
involved_in positive regulation of lipid... GO:0000000 PMID: 18322245
involved_in positive regulation of macro... GO:0000000 PMID: 17244792,18322245,19114110
involved_in post-embryonic development GO:0000000 -
involved_in regulation of cholesterol bi... GO:0000000 -
involved_in response to virus GO:0000000 PMID: 16548883
involved_in signal transduction GO:0000000 -
involved_in spermatogenesis GO:0000000 -
involved_in triglyceride catabolic proce... GO:0000000 -
involved_in triglyceride mobilization GO:0000000 -
involved_in very-low-density lipoprotein... GO:0000000 PMID: 15308631
Component GO ID Evidence
-------------------------------------------------------------------------------------------------
part_of chylomicron GO:0000000 PMID: 4363408,8245722
part_of chylomicron remnant GO:0000000 PMID: 6099394
located_in clathrin-coated endocytic ves... GO:0000000 -
located_in cytoplasm GO:0000000 PMID: 22580899
located_in cytosol GO:0000000 -
located_in cytosol GO:0000000 -
located_in early endosome GO:0000000 -
located_in endocytic vesicle lumen GO:0000000 -
located_in endoplasmic reticulum exit si... GO:0000000 PMID: 27138255
located_in endoplasmic reticulum lumen GO:0000000 -
located_in endoplasmic reticulum membran... GO:0000000 -
located_in endosome lumen GO:0000000 -
located_in endosome membrane GO:0000000 -
located_in extracellular exosome GO:0000000 PMID: 23533145
located_in extracellular region GO:0000000 PMID: 27068509
located_in extracellular region GO:0000000 -
is_active_in extracellular space GO:0000000 PMID: 26224785
located_in extracellular space GO:0000000 PMID: 22261194
part_of intermediate-density lipoprotein... GO:0000000 PMID: 1917954
located_in intracellular membrane-bounde... GO:0000000 -
located_in lipid droplet GO:0000000 -
part_of low-density lipoprotein particle GO:0000000 -
part_of low-density lipoprotein particle GO:0000000 PMID: 4363408
part_of low-density lipoprotein particle GO:0000000 PMID: 27477018
located_in lysosomal lumen GO:0000000 -
part_of mature chylomicron GO:0000000 -
part_of mature chylomicron GO:0000000 PMID: 4363408
located_in neuronal cell body GO:0000000 PMID: 22897442
located_in plasma membrane GO:0000000 -
located_in smooth endoplasmic reticulum GO:0000000 -
part_of very-low-density lipoprotein par... GO:0000000 -
part_of very-low-density lipoprotein par... GO:0000000 PMID: 4363408,15308631
part_of very-low-density lipoprotein par... GO:0000000 PMID: 27477018
GENERAL PROTEIN INFORMATION
-------------------------------------------------------------------------------------------------
Preferred Names
apolipoprotein B-100
Names
apolipoprotein B (including Ag(x) antigen)
apolipoprotein B48
NCBI REFERENCE SEQUENCES (RefSeq)
-------------------------------------------------------------------------------------------------
RefSeqs maintained independently of Annotated Genomes
These reference sequences exist independently of genome builds.
These reference sequences are curated independently of the genome annotation cycle,
so their versions may not match the RefSeq versions in the current genome build.
Identify version mismatches by comparing the version of the RefSeq in this section to
the one reported in Genomic regions, transcripts, and products section above.
Genomic
NG_011793.2 RefSeqGene
Range 4999..47643
Download GenBank FASTA Sequence Viewer (Graphics)
mRNA and Protein(s)
NM_000384.3 → NP_000375.3 REVIEWEDapolipoprotein B-100 precursor
Source sequence(s): AC010872, AC115619, KF456638
Consensus CDS: CCDS1703.1
UniProtKB/TrEMBL: A0AAG2UUW0
UniProtKB/Swiss-Prot: O00502
UniProtKB/Swiss-Prot: P04114
UniProtKB/Swiss-Prot: P78479
UniProtKB/Swiss-Prot: P78480
UniProtKB/Swiss-Prot: P78481
UniProtKB/Swiss-Prot: Q13779
UniProtKB/Swiss-Prot: Q13785
UniProtKB/Swiss-Prot: Q13786
UniProtKB/Swiss-Prot: Q13787
UniProtKB/Swiss-Prot: Q13788
UniProtKB/Swiss-Prot: Q4ZG63
UniProtKB/Swiss-Prot: Q53QC8
UniProtKB/Swiss-Prot: Q7Z600
UniProtKB/Swiss-Prot: Q9UMN0
Related Ensembl: ENSP00000233242.1, ENST00000233242.5
Conserved Domains (7)summary
TIGR01612:
Location:2060 - 2490
235kDa-fam; reticulocyte binding/rhoptry protein
COG1340:
Location:4258 - 4523
COG1340; Uncharacterized coiled-coil protein, contains DUF342 domain [Function unknown]
pfam01347:
Location:46 - 597
Vitellogenin_N; Lipoprotein amino terminal region
pfam12491:
Location:4494 - 4550
ApoB100_C; Apolipoprotein B100 C terminal
pfam06448:
Location:961 - 1062
DUF1081; Domain of Unknown Function (DUF1081)
pfam09172:
Location:632 - 937
DUF1943; Domain of unknown function (DUF1943)
cl21487:
Location:1448 - 1865
OM_channels; Porin superfamily. These outer membrane channels share a beta-barrel structure that dif...
RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08
The following sections contain reference sequences that belong to a specific genome build.
This section includes genomic Reference Sequences (RefSeqs) from all assemblies on which
this gene is annotated, such as RefSeqs for chromosomes and scaffolds (contigs) from both
reference and alternate assemblies. Model RNAs and proteins are also reported here.
Reference GRCh38.p14 Primary Assembly
Genomic
NC_000002.12 Reference GRCh38.p14 Primary Assembly
Range 21001428..21044072, complement
Download GenBank FASTA Sequence Viewer (Graphics)
Reference GRCh38.p14 PATCHES
Genomic
NW_025791767.1 Reference GRCh38.p14 PATCHES
Range 52096..94740, complement
Download GenBank FASTA Sequence Viewer (Graphics)
Alternate T2T-CHM13v2.0
Genomic
NC_060926.1 Alternate T2T-CHM13v2.0
Range 21034647..21077292, complement
Download GenBank FASTA Sequence Viewer (Graphics)
RELATED SEQUENCES
-------------------------------------------------------------------------------------------------
Nucleotide Protein
-------------------------------------------------------------------------------------------------
genomic ABBA01045079.1(35026..35027) None
genomic AC010872.8 AAX88848.1
genomic AC115619.3 AAX93246.1
genomic AH003569.2 AAB00481.1
genomic AY324608.1 AAP72970.1
genomic CH471053.2 EAX00801.1
EAX00802
EAX00803
genomic CP068276.2(21034648..21077293) None
genomic FJ525873.1 ACN81311.1
genomic HF583484.1 CCQ42981.1
genomic HQ190918.1 ADM85890.1
genomic HQ190919.1 ADM85891.1
genomic HQ190920.1 ADM85892.1
genomic HQ190921.1 ADM85893.1
genomic J04838.1 AAA53373.1
AAA53374
genomic KC818416.1 AGQ46318.1
genomic KC818417.1 AGQ46319.1
genomic KC818418.1 AGQ46320.1
genomic KF456638.1 None
genomic M15053.1 AAB60718.1
genomic OR243273.1 None
genomic S73194.1 AAB31094.1
genomic S73195.1 AAB31095.2
genomic X04867.1 CAA28558.1
genomic X04868.1 CAA28559.1
genomic X04869.1 CAA28560.1
genomic X04870.1 CAA28561.1
mRNA AB208846.1 BAD92083.1
mRNA AJ399514.1 None
mRNA AK290844.1 BAF83533.1
mRNA BC051278.1 AAH51278.1
mRNA HM487065.1 ADN03360.1
mRNA J02610.1 AAA35549.1
mRNA K03175.1 AAA51759.1
mRNA M10374.1 AAA51750.1
mRNA M12413.1 AAA51742.1
mRNA M12480.1 AAA51751.1
mRNA M12681.1 AAA51753.1
mRNA M14081.1 AAA51752.1
mRNA M14162.1 AAB04636.1
mRNA M15421.1 AAA51758.1
mRNA M17367.1 AAA51741.1
mRNA M17779.1 AAA51755.1
mRNA M18036.1 AAA51754.1
mRNA M18471.1 AAA35541.1
mRNA M19734.1 AAA35544.1
mRNA M31030.1 AAA51756.1
mRNA M36676.1 AAA35548.1
mRNA X03045.1 CAA26850.1
mRNA X03324.1 CAA27043.1
mRNA X03325.1 CAA27044.1
mRNA X03326.1 CAA27045.1
mRNA X04506.1 CAA28191.1
mRNA X04714.1 CAA28420.1
Protein Accession Links
-------------------------------------------------------------------------------------------------
P04114.3 GenPept(/protein/2664703076) UniProtKB/Swiss-Prot:P04114
GENE LINKOUT
-------------------------------------------------------------------------------------------------
The following LinkOut(www.ncbi.nlm.nih.gov/projects/linkout/index.html) resources
are supplied by external providers. These providers are responsible for
maintaining the links.
Chemical Information
(Free resource) (free) Interologous Interaction Database
Interologous Interaction Database
(Order form) MilliporeSigma
APOB productsAPOB products
Medical
(Free resource) (free) MedlinePlus Health Information
APOB geneAPOB gene
Molecular Biology Databases
(Free resource) (free) Bgee database
APOB gene expressionAPOB gene expression
(Free resource) (free) BioGPS
BioGPS
(Free resource) (free) BioGRID Open Repository of CRISPR Screens (ORCS)
BioGRID CRISPR Screen Phenotypes (16 hits/1358 screens)BioGRID CRISPR Screen Phenotypes (16 hits/1358 screens)
(Free resource) (free) Eukaryotic Promoter Database
APOB_1APOB_1
(Free resource) (free) GlyGen glycoinformatics resource
GlyGen glycoinformatics resource
(Free resource) (Free registration required) (free) Human Gene Mutation Database
Human Gene Mutation Database
(Free resource) (free) Human eFP Browser
Human eFP BrowserHuman eFP BrowserHuman eFP Browser
Ingenuity Pathways Analysis
Ingenuity Pathways Analysis
(Free resource) (free) InnateDB
InnateDB
(Free resource) (free) InterMine
InterMine
(Free resource) (free) Kyoto Encyclopedia of Genes and Genomes
Kyoto Encyclopedia of Genes and Genomes
(Free resource) (free) LSDB from Gene
APOB databaseAPOB database
(Free resource) (free) OMA Browser: Orthologous MAtrix
OMA Browser: Orthologous MAtrix
(Free resource) (free) OrthoDB catalog of orthologs
OrthologsOrthologs
(Free resource) (free) Pharmacogenomics Knowledge Base
Annotated Pharmacogenomic Information for APOB [PharmGKB]Annotated Pharmacogenomic Information for APOB [PharmGKB]
(Free resource) (free) PhosphoSitePlus
PhosphoSitePlus® - comprehensive post-translational modification resourcePhosphoSitePlus® - comprehensive post-translational modification resource
(Free resource) (free) The Gene Wiki
The Gene Wiki
(Free resource) (free) The Weizmann Institute of Science GeneCards and MalaCards databases
GeneCard for APOBGeneCard for APOB
Research Materials
(Order form) Addgene Non-profit plasmid repository
Get Plasmids - AddgeneGet Plasmids - Addgene
(Order form) Bio-Techne
Apolipoprotein B/ApoB AntibodiesApolipoprotein B/ApoB AntibodiesApolipoprotein B100/ApoB100 AntibodiesApolipoprotein B100/ApoB100 AntibodiesApolipoprotein B/ApoB ELISA KitsApolipoprotein B/ApoB ELISA Kits
ExactAntigen/Labome
reagent reviewreagent reviewreagentsreagents
(Order form) GenScript latest version of gene cDNA ORF Clone
GenScript latest version of gene cDNA ORF Clone
(Order form) GeneCopoeia Inc.
Order TALEN/CRISPR clonesOrder TALEN/CRISPR clonesOrder full-length ORF cloneOrder full-length ORF cloneOrder promoter cloneOrder promoter clone
(Order form) GeneTex Inc
Find Quality AntibodiesFind Quality Antibodies
(Order form) Kazusa DNA Research Institute
Kazusa DNA Research Institute
(Order form) OriGene
Order APOB cDNA clone/Protein/Antibody/RNAiOrder APOB cDNA clone/Protein/Antibody/RNAi
Tools
(Free resource) (free) GeneMANIA
GeneMANIA