ABCA1

Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.

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).

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.

Phosphorylation on Ser-2054 regulates phospholipid efflux.

Palmitoylated by ZDHHC8 (PubMed:19556522). Palmitoylation is essential for localization to the plasma membrane (PubMed:19556522).

Belongs to the ABC transporter superfamily. ABCA family.

Widely expressed, but most abundant in macrophages.

• Cell membrane
• Multi-pass membrane protein
• Endosome

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

• entrezGene:19
• omim:600046
• swissprot:O95477

Proteins

Metabolism

254302Da