ABCA1
GeneName
ABCA1
Summary
ABCA1, also known as CERP or IRF5, is a 254 kDa ATP-binding cassette transporter primarily expressed in the liver and intestine. It is localised to various cellular compartments including the basolateral plasma membrane, endoplasmic reticulum membrane, and endosomes. ABCA1 plays a crucial role in cholesterol and phospholipid transport, facilitating the efflux of cholesterol to apolipoprotein A-I, which is essential for high-density lipoprotein (HDL) formation. This protein is involved in several biological processes such as cholesterol homeostasis, lipid metabolism, and the cellular response to various stimuli, including lipopolysaccharides and retinoic acid.
Importance
ABCA1 is relevant to: - Cardiovascular health due to its role in HDL metabolism and reverse cholesterol transport, impacting atherosclerosis development - Metabolic disorders, as it influences cholesterol and lipid levels in the body - Inflammatory responses, given its involvement in cellular responses to cytokines and lipopolysaccharides - Neurodegenerative diseases, where cholesterol homeostasis is critical for neuronal function and integrity
Top Products
For researchers investigating ABCA1, we recommend two excellent primary antibodies that cater to a variety of applications. The first is the well-cited Anti-ABCA1 antibody [AB.H10] (ab18180), which has garnered 236 citations, underscoring its reliability in the field. This monoclonal antibody is validated for use in Western blotting (WB), immunohistochemistry (IHC), and flow cytometry (FC), making it a versatile choice for your research needs. Additionally, we offer the recombinant Anti-ABCA1 antibody [EPR27494-51] (ab307534), which is suitable for WB, immunocytochemistry (ICC), and immunoprecipitation (IP). This recombinant antibody provides the added benefit of batch-to-batch consistency, ensuring dependable results in your experiments. Together, these antibodies represent a robust toolkit for studying ABCA1 effectively. The Anti-ABCA1 antibody ELISA Kit (ab66217), supported by 33 citations, is an excellent option for researchers looking to accurately measure ABCA1 levels in their samples.
Abcam Product Citation Summary
The data indicates a strong focus on the role of ABCA1 in cholesterol metabolism and related processes across various species, particularly in mouse and human models. The use of Western blotting is prevalent, highlighting its importance in detecting ABCA1 expression in different biological contexts, including macrophage function, preterm deliveries, and cancer studies. The studies suggest that ABCA1 is a critical target for understanding lipid homeostasis and its implications in diseases such as gestational diabetes and cancer.
Abcam Product Citation Table
Domain
Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.
Function
Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981, PubMed:35974019). Thereby, participates in phospholipid transfer to apolipoproteins to form nascent high density lipoproteins/HDLs (PubMed:14754908). Transports preferentially phosphatidylcholine over phosphatidylserine (PubMed:24097981). May play a similar role in the efflux of intracellular cholesterol to apolipoproteins and the formation of nascent high density lipoproteins/HDLs (PubMed:10533863, PubMed:14754908, PubMed:24097981, PubMed:35974019). Translocates phospholipids from the outer face of the plasma membrane and forces it through its gateway and annulus into an elongated hydrophobic tunnel in its extracellular domain (PubMed:35974019).
Involvement in disease
Tangier disease
TGD
An autosomal recessive disorder characterized by near absence of plasma high density lipoproteins, low serum HDL cholesterol, and massive tissue deposition of cholesterol esters. Clinical features include large yellow-orange tonsils, hepatomegaly, splenomegaly, enlarged lymph nodes, and often sensory polyneuropathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Hypoalphalipoproteinemia, primary, 1
FHA1
An autosomal dominant disorder characterized by decreased plasma high density lipoproteins, moderately low HDL cholesterol, a reduction in cellular cholesterol efflux, and susceptibility to premature coronary artery disease.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylation on Ser-2054 regulates phospholipid efflux.
Palmitoylated by ZDHHC8 (PubMed:19556522). Palmitoylation is essential for localization to the plasma membrane (PubMed:19556522).
Sequence Similarities
Belongs to the ABC transporter superfamily. ABCA family.
Tissue Specificity
Widely expressed, but most abundant in macrophages.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Endosome
Alternative names
ABC1, CERP, ABCA1, Phospholipid-transporting ATPase ABCA1, ATP-binding cassette sub-family A member 1, ATP-binding cassette transporter 1, Cholesterol efflux regulatory protein, ABC-1, ATP-binding cassette 1