APOB

Gene Information
 
Gene Symbol
APOB
 
Aliases
FLDB, LDLCQ4
 
Entrez Gene ID
338
 
Gene Name
Apolipoprotein B
 
Chromosomal Location
2p24-p23
 
HGNC ID
603
 
Summary
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 ID
 
UniGene
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Definition Evidence Reference
GO:0008203 Biological process Cholesterol metabolic process IMP 2563166
GO:0009615 Biological process Response to virus IEP 16548883
GO:0010744 Biological process Positive regulation of macrophage derived foam cell differentiation IDA 17244792
GO:0010884 Biological process Positive regulation of lipid storage IDA 18322245
GO:0010886 Biological process Positive regulation of cholesterol storage IDA 19114110
Protein Information
 
Protein Name
Apolipoprotein B (including Ag(x) antigen), apolipoprotein B48 , Apo B-100 , LDLCQ4 , FLDB , apolipoprotein B-100 , apoB-100 , apoB-48 , apo B-100 , mutant Apo B 100
 
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
 
Refseq Proteins
 
UniProt
 
Pfam
Pfam Accession Pfam ID
PF01347 Vitellogenin_N Lipoprotein amino terminal region
PF06448 DUF1081 Domain of Unknown Function (DUF1081)
PF09172 DUF1943 Domain of unknown function (DUF1943)
PF12491 ApoB100_C Apolipoprotein B100 C terminal
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Atherosclerosis 18418429
Cardiovascular diseases 22197663, 18418429
Dyslipidemia 22674204, 11720200, 9329374
Hyperandrogenism 9329374
Hyperprolactinemia 20137674
   
References
 
Primary:

Apolipoprotein A-I and B levels, dyslipidemia and metabolic syndrome in south-west Chinese women with PCOS.

Zhang Jinxia, Fan Ping, Liu Hongwei, Bai Huai, Wang Ying, Zhang Feng
Laboratory of Genetic Disease and Perinatal Medicine and Key Laboratory of Obstetric and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, People's Republic of China.
Hum Reprod. 2012 Aug;27(8):2484-93. doi: 10.1093/humrep/des191. Epub 2012 Jun 6.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
ApoA-I 
Dyslipidemia 
 
Rotterdam criteria 
Related 
Chinese-406 patients with PCOS and 342 control women between 17 and 40 years of age 
 PCOS patients with dyslipidemia had significantly higher TG/HDL-C ratios, and lower HDL-C and apoA-I levels when compared with the controls or patients without dyslipidemia, and had significantly higher BMIs, fasting insulin concentrations, 2-h insulin and glucose levels, homeostatic model assessment IR, TG levels, LDL-C levels, atherogenic indexes, apoB concentrations and apoB/apoA-I ratios when compared with all of the control women, with or without dyslipidemia and patients without dyslipidemia. 
ApoA-I 
Metabolic syndrome 
 
 
Related 
Chinese-160 adolescent women 
The ApoB/ApoA1 ratio was a good predictive marker of MS and pre-MS in Chinese adolescent women with PCOS 
ApoA-I 
Dyslipidemia 
 
 
Related 
 
A significant finding was the decrease in ApoA1/ApoB ratio among the women with PCOS compared to both controls and obese women. 
MCP-1,ApoA-I 
 
 
 
Related 
 
PCOS obese and non-obese patients had higher serum MCP-1 levels than controls. MCP-1 was correlated with BMI, LH ,TG, ApoB and the ratio of ApoA/ ApoB. 
 
Hyperprolactinemia 
 
 
Related 
 
Patients with hyperPRL + PCOS develop the endocrine disturbances at a younger age, a greater incidence rate of acne, level of prolactin and androstenedione, they have reduced ApoB and increased HOMA-IR. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
25956367
PON1 polymorphisms are associated with polycystic ovary syndrome susceptibility, related traits, and PON1 activity in Indian women with the syndrome. 
Clinical study 
25189919
Leptin levels in women with polycystic ovaries undergoing ovarian stimulation: relation to lipoprotein profiles. 
Clinical study 
25189910
Lipid lipoprotein profile alterations in Greek infertile women with polycystic ovaries: influence of adipocytokines levels. 
Clinical study 
24576225
Correlation of visfatin levels and lipoprotein lipid profiles in women with polycystic ovary syndrome undergoing ovarian stimulation. 
Clinical study 
24512495, PMC4010695
Decreased cholesterol efflux capacity and atherogenic lipid profile in young women with PCOS. 
Clinical study 

 

| © 2015, Biomedical Informatics Centre, NIRRH |
National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400 012
Tel: 91-22-24192104, Fax No: 91-22-24139412