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 both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]

Description

ATP binding cassette subfamily A member 1

Tissue specificity

Low tissue specificity

Subcell location

Nucleoplasm, Vesicles

Predicted location

Intracellular, Membrane

Protein family

Disease related genes
Enzymes
FDA approved drug targets
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Predicted intracellular proteins
Predicted membrane proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

9 (104781006 - 104928155)

Ensembl ID

ENSG00000165029  (ver. 103.38)

Orthologs

Mouse Abca1: ENSMUSG00000015243

UniProt

O95477

neXtProt

NX_O95477

Human splice variants
Mouse splice variants

Protein structure