ABCA1

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in this gene have been associated with Tangier's disease and familial high-density lipoprotein deficiency. [provided by RefSeq, Jul 2008]

ATP Binding Cassette Subfamily A Member 1

Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP. Thereby, participates in phospholipid transfer to apoliproteins to form nascent high density lipoproteins/HDLs. Transports preferentially phosphatidylcholine over phosphatidylserine. May play a similar role in the efflux of intracellular cholesterol to apoliproteins and the formation of nascent high density lipoproteins/HDLs

Adenylate cyclase-activating G protein-coupled receptor signaling pathway
Cellular response to low-density lipoprotein particle stimulus
Cholesterol efflux
Cholesterol homeostasis
Cholesterol metabolic process
Endosomal transport
Export across plasma membrane
G protein-coupled receptor signaling pathway
High-density lipoprotein particle assembly
Intracellular cholesterol transport
Intracellular receptor signaling pathway
Lipid transport
Lysosome organization
Negative regulation of cholesterol storage
Negative regulation of macrophage derived foam cell differentiation
Phospholipid efflux
Phospholipid homeostasis
Phospholipid translocation
Platelet dense granule organization
Positive regulation of cholesterol efflux
Positive regulation of high-density lipoprotein particle assembly
Protein secretion
Protein transmembrane transport
Regulation of Cdc42 protein signal transduction
Regulation of high-density lipoprotein particle assembly
Regulation of metabolic process
Response to laminar fluid shear stress
Reverse cholesterol transport
Signal release

Endosome; Cell membrane

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.
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.

Helical: 22-42 aa
Extracellular: 43-639 aa
Helical: 640-1371 aa
Extracellular: 1372-1656 aa
Helical: 1657-1872 aa

Phosphorylation on Ser-2054 regulates phospholipid efflux.
Palmitoylated by ZDHHC8. Palmitoylation is essential for localization to the plasma membrane