APOA1

Gene Information
 
Gene Symbol
APOA1
 
Entrez Gene ID
335
 
Gene Name
Apolipoprotein A-I
 
Chromosomal Location
11q23-q24
 
HGNC ID
600
 
Summary
This gene encodes apolipoprotein A-I, which is the major protein component of high density lipoprotein (HDL) in plasma. The protein promotes cholesterol efflux from tissues to the liver for excretion, and it is a cofactor for lecithin cholesterolacyltransferase (LCAT) which is responsible for the formation of most plasma cholesteryl esters. This gene is closely linked with two other apolipoprotein genes on chromosome 11. Defects in this gene are associated with HDL deficiencies, including Tangier disease, and with systemic non-neuropathic amyloidosis. (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:0002740 Biological process Negative regulation of cytokine secretion involved in immune response IDA 12458630
GO:0006656 Biological process Phosphatidylcholine biosynthetic process IDA 4335615
GO:0007186 Biological process G-protein coupled receptor protein signaling pathway IDA 16443932
GO:0008203 Biological process Cholesterol metabolic process IMP 15464323
GO:0010873 Biological process Positive regulation of cholesterol esterification IDA 4335615
Protein Information
 
Protein Name
Truncated apolipoprotein A-I
 
Function
Participates in the reverse transport of cholesterol from tissues to the liver for excretion by promoting cholesterol efflux from tissues and by acting as a cofactor for the lecithin cholesterol acyltransferase (LCAT). As part of the SPAP complex, activates spermatozoa motility
 
Refseq Proteins
 
UniProt
 
PDB
 
InterPro
Accessions
IPR000074, IPR013326
 
Pfam
Pfam Accession Pfam ID
PF01442 Apolipoprotein Apolipoprotein A1/A4/E domain
 
KEGG
 
OMIM
 
Phenotype MIM ID

Associated Diseases

Diseases References
Coronary heart disease 18426742
Dyslipidemia 18426742, 11720200
Hyperandrogenism 18056772
Insulin resistance 18056772
Obesity 18056772
   
References
 
Primary:

LDL species heterogeneity in the atherogenic dyslipidemia of polycystic ovary syndrome.

Doi Suhail A R, Abbas Jasem M K, Parkinson Lynne, Chakraborty Jagadish, Akanji Abayomi O
Division of Endocrinology, Mubarak Al-Kabeer Teaching Hospital, Kuwait, Kuwait.
Am J Clin Pathol. 2008 May;129(5):802-10. doi: 10.1309/E7EGTTVCRFVBA7EC.
 
Supporting Literature:
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
APOB 
Dyslipidemia 
 
 
Related 
 
The study confirms the trend toward dyslipidemia among women with PCOS, particularly in parameters associated with cardiovascular risk. 
SHBG 
Cardiovascular risk,obesity, insulin resistance, and hyperandrogenism 
 
Rotterdam criteria 
Related 
 
PCOS is associated with a more pronounced atherogenic lipid profile. 

Unreviewed Literature:

PubMed / PMC ID
Title Type of study
25813288
Antioxidant properties of high-density lipoproteins are impaired in women with polycystic ovary syndrome. 
Clinical study 
24517721
The effects of metformin on endothelial dysfunction, lipid metabolism and oxidative stress in women with polycystic ovary syndrome. 
Effect of treatment 
24512495, PMC4010695
Decreased cholesterol efflux capacity and atherogenic lipid profile in young women with PCOS. 
Clinical study 
23746632
Effects of apolipoprotein E genotypes on metabolic profile and oxidative stress in southwest Chinese women with polycystic ovary syndrome. 
Clinical study 
22935150
Different protein expression patterns associated with polycystic ovary syndrome in human follicular fluid during controlled ovarian hyperstimulation. 
In vitro 

 

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