ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1)

Full Name:

ATP-binding cassette, sub-family A (ABC1), member 1 [Homo sapiens]

Symbol:

ABCA1

Other Symbols:

ABC-1, ABC1, CERP, FLJ14958, HDLDT1, MGC164864, MGC165011, TGD

Other Names:

ATP binding cassette transporter 1; ATP-binding cassette 1; ATP-binding cassette transporter A1; ATP-binding cassette, sub-family A member 1; cholesterol efflux regulatory protein; membrane-bound

Chromosome Location:

9q31.1

Map Viewer

Gene ID:

19

OMIM ID:

600046

OMIM

Family            :

ATP-binding cassette, sub-family A

Classification:

3.A.1.211.1

Sequences:

Nucleotide

Protein

Functions:

A cholesteral efflux pump

Polymorphisms/Variants/SNPs/Pharmacogenomics:

dbSNP

SNP VarView

GeneView in dbSNP

Pathways and Cellular Interactions:

1. ABCA1 is involved in cellular lipid removal pathways.
2. IFN-gamma down-regulates ABCA1 expression, through inhibiting LXRalpha with JAK/STAT signaling pathway involved. (http://www.ncbi.nlm.nih.gov/pubmed/18789440)
3. Eicosapentaenoic acid decreases ABCA1 serine phosphorylation and ABCA1-dependent cholesterol efflux, depending on cyclic AMP/protein kinase A signaling pathway in THP-1 macrophage-derived foam cells. (http://www.ncbi.nlm.nih.gov/pubmed/19070858)
4. Missense mutations in ABCA1 impair lipid export, apoA-I binding, and apoA-I-stimulated JAK2 activities to similar extents, suggesting that these processes are interactive components of a pathway that exports lipids from cells. (http://www.ncbi.nlm.nih.gov/pubmed/18776170)
5. The retroendocytosis pathway of ABCA1/apoA-I causes HDL formation when excess lipoprotein-derived cholesterol accumulates in cells. (http://www.ncbi.nlm.nih.gov/pubmed/19170766)
6. Stimulation of hydrolysis of cholesteryl ester in macrophages induces the ABCA1 gene expression through the LXR-dependent pathway, which can be used for the prevention of atherosclerosis. (http://www.ncbi.nlm.nih.gov/pubmed/18762171)
7. The HDL biogenesis pathway involves both ABCA1 and the “high-capacity binding site”. (http://www.ncbi.nlm.nih.gov/pubmed/17656736)
8. APN might protect against atherosclerosis though increasing HDL assembly, by enhancing ABCA1 pathway and apoA-1 synthesis in the liver. (http://www.ncbi.nlm.nih.gov/pubmed/17521614)
9. Intracellular unsaturated acyl-CoA derivatives may destabilize ABCA1 through activating a PLD2 signaling pathway. (http://www.ncbi.nlm.nih.gov/pubmed/16118212)
10. The ABCA1 pathway may be impaired by acrolein-induced apoA-I modification. (http://www.ncbi.nlm.nih.gov/pubmed/16126721)
11. Oxidation by myeloperoxidase impairs the ability of apoA-I to promote cholesterol efflux through the ABCA1 pathway, and the oxidative process may contribute to foam cell formation and atherogenesis. (http://www.ncbi.nlm.nih.gov/pubmed/16497665)
12. Cholesterol efflux through the ABCA1/apoA-I pathway is enhanced by the GSL synthesis inhibitor PDMP. (http://www.ncbi.nlm.nih.gov/pubmed/15890646)
13. ABCA1 is phosphorylated and stabilized in a pathway in which apoA-I activates PKC alpha through PC-PLC-mediated generation of diacylglycerol. (http://www.ncbi.nlm.nih.gov/pubmed/12952980)
14. There is an interaction of PON1 gene polymorphism A/B192 and ABCA1 genetic variation R219K on serum lipid level. (http://www.ncbi.nlm.nih.gov/pubmed/15952113)
15. Nuclear liver X receptor-beta (LXR-beta) interacts with ABCA1 and modulates cholesterol efflux. (http://www.ncbi.nlm.nih.gov/pubmed/18782758)
16. Physical interaction of ABCA1 and SPTLC1 causes reduction of ABCA1 activity, while inhibition of this interaction produces enhanced cholesterol efflux. (http://www.ncbi.nlm.nih.gov/pubmed/18484747)
17. Beta1-syntrophin acts through a class-I PDZ interaction with the C terminus of ABCA1 to regulate the cellular distribution and activity of the transporter. (http://www.ncbi.nlm.nih.gov/pubmed/16192269)

Tissue Distribution:

Adrenals, liver, lymph nodes, macrophages, uterus

Relevant Diseases:

Mutations and polymorphisms have been associated with:

- Alzheimer’s disease (http://www.ncbi.nlm.nih.gov/pubmed/17510949)

- Cardiovascular diseases (http://www.ncbi.nlm.nih.gov/pubmed/17368464)

- Diabetes (http://www.ncbi.nlm.nih.gov/pubmed/16055210)

- Familial high-density lipoprotein deficiency

- Hypertension (http://www.ncbi.nlm.nih.gov/pubmed/18097620)

- Obesity (http://www.ncbi.nlm.nih.gov/pubmed/17287470)

- Tangier’s disease

Substrates:

ApoE, cholesterol, phospholipids

Drugs:

Statins (http://www.ncbi.nlm.nih.gov/pubmed/19530967)

Doxazosin (http://www.ncbi.nlm.nih.gov/pubmed/17556657)