ABCA1 est un gène codé par le symbole ABCA1. D'autres noms incluent: Phospholipid-transporting ATPase ATP-binding cassette sub-family A member 1; ATP-binding cassette transporter 1; ABC-1; Cholesterol efflux regulatory protein; ABC1; CERP. ABCA1 a une masse de 254.3kDa, une longueur d'acide aminé de 2261, et est impliqué dans les maladies: High density lipoprotein deficiency 1; High density lipoprotein deficiency 2.
Nous proposons 9 des anticorps contre ABCA1, élevé dans Lapin et Rat, qui sont appropriés pour le WB, IHC, ICC/IF et Cytométrie en Flux avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Catalyzes the translocation of specific phospholipids from the cytoplasmic to the extracellular/lumenal leaflet of membrane coupled to the hydrolysis of ATP (PubMed:24097981). Thereby, participates to phospholipids transfer to apoliproteins 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 apoliproteins and the formation of nascent high density lipoproteins/HDLs (PubMed:10533863, PubMed:14754908, PubMed:24097981).
Résumé Entrez
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.
Spécificité tissulaire
Widely expressed, but most abundant in macrophages.
Implication dans la maladie
High density lipoprotein deficiency 1: Recessive disorder characterized by absence of high density lipoprotein (HDL) cholesterol from plasma, accumulation of cholesteryl esters, premature coronary artery disease (CAD), hepatosplenomegaly, recurrent peripheral neuropathy and progressive muscle wasting and weakness.
High density lipoprotein deficiency 2: Inherited as autosomal dominant trait. It is characterized by moderately low HDL cholesterol, predilection toward premature coronary artery disease (CAD) and a reduction in cellular cholesterol efflux.
Similitudes de séquence
Belongs to the ABC transporter superfamily. ABCA family.
Modification post-traductionnelle
Phosphorylation on Ser-2054 regulates phospholipid efflux.
Localisation cellulaire
Membrane. Cell membrane. Endosome.
