ABCA1

ATP-binding cassette, sub-family A (ABC1), member 1
Identifiers
Symbol(s)	ABCA1; ABC-1; ABC1; CERP; FLJ14958; HDLDT1; TGD
External IDs	OMIM: 600046 MGI: 99607 Homologene: 21130
Gene ontology Molecular Function: • nucleotide binding • protein binding • ATP binding • anion transmembrane transporter activity • sterol transporter activity • ATPase activity Cellular Component: • membrane fraction • Golgi apparatus • integral to plasma membrane • membrane Biological Process: • lipid metabolic process • transport • phagocytosis, engulfment • steroid metabolic process • cholesterol metabolic process • cholesterol transport • lipoprotein biosynthetic process • phospholipid translocation
RNA expression pattern
More reference expression data
Orthologs
	Human	Mouse
Entrez	19	11303
Ensembl	ENSG00000165029	ENSMUSG00000015243
Uniprot	O95477	Q8BPY1
Refseq	NM_005502 (mRNA) NP_005493 (protein)	NM_013454 (mRNA) NP_038482 (protein)
Location	Chr 9: 106.58 - 106.73 Mb	Chr 4: 53.05 - 53.18 Mb
Pubmed search	[1]	[2]

ATP-binding cassette transporter ABCA1 (member 1 of human transporter sub-family ABCAis a human protein and gene. This transporter is a major regulator of cellular cholesterol and phospholipid homeostasis.

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 (ABCA, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABCA subfamily. Members of the ABCA subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesterol 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.

Further reading

• Oram JF (2003). "ATP-binding cassette transporter A1 and cholesterol trafficking.". Curr. Opin. Lipidol. 13 (4): 373-81. PMID 12151852.
• Hong SH, Rhyne J, Zeller K, Miller M (2003). "ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease.". Atherosclerosis 164 (2): 245-50. PMID 12204794.
• Kozak M (2003). "Emerging links between initiation of translation and human diseases.". Mamm. Genome 13 (8): 401-10. doi:10.1007/s00335-002-4002-5. PMID 12226704.
• Joyce C, Freeman L, Brewer HB, Santamarina-Fojo S (2004). "Study of ABCA1 function in transgenic mice.". Arterioscler. Thromb. Vasc. Biol. 23 (6): 965-71. doi:10.1161/01.ATV.0000055194.85073.FF. PMID 12615681.
• Singaraja RR, Brunham LR, Visscher H, et al. (2004). "Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene.". Arterioscler. Thromb. Vasc. Biol. 23 (8): 1322-32. doi:10.1161/01.ATV.0000078520.89539.77. PMID 12763760.
• Nofer JR, Remaley AT (2005). "Tangier disease: still more questions than answers.". Cell. Mol. Life Sci. 62 (19-20): 2150-60. doi:10.1007/s00018-005-5125-0. PMID 16235041.
• Yokoyama S (2006). "ABCA1 and biogenesis of HDL.". J. Atheroscler. Thromb. 13 (1): 1-15. PMID 16505586.
• Schmitz G, Schambeck CM (2006). "Molecular defects in the ABCA1 pathway affect platelet function.". Pathophysiol. Haemost. Thromb. 35 (1-2): 166-74. doi:10.1159/000093563. PMID 16855366.