{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:17:54Z","timestamp":1791206274834,"version":"4.1.0"},"reference-count":54,"publisher":"National Academy of Sciences","issue":"14","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2000,7,5]]},"abstract":"<jats:p>\n                    The\n                    <jats:italic>ABCA1<\/jats:italic>\n                    gene, a member of the ATP-binding cassette A (ABCA1) transporter superfamily, encodes a membrane protein that facilitates the cellular efflux of cholesterol and phospholipids. Mutations in\n                    <jats:italic>ABCA1<\/jats:italic>\n                    lead to familial high density lipoprotein deficiency and Tangier disease. We report the complete human\n                    <jats:italic>ABCA1<\/jats:italic>\n                    gene sequence, including 1,453 bp of the promoter, 146,581 bp of introns and exons, and 1 kb of the 3\u2032 flanking region. The\n                    <jats:italic>ABCA1<\/jats:italic>\n                    gene spans 149 kb and comprises 50 exons. Sixty-two repetitive Alu sequences were identified in introns 1\u201349. The transcription start site is 315 bp upstream of a newly identified initiation methionine codon and encodes an ORF of 6,783 bp. Thus, the ABCA1 protein is comprised of 2,261 aa. Analysis of the 1,453 bp 5\u2032 upstream of the transcriptional start site reveals multiple binding sites for transcription factors with roles in lipid metabolism. Comparative analysis of the mouse and human ABCA1 promoter sequences identified specific regulatory elements, which are evolutionarily conserved. The human ABCA1 promoter fragment \u2212200 to \u221280 bp that contains binding motifs for SP1, SP3, E-box, and AP1 modulates cellular cholesterol and cAMP regulation of\n                    <jats:italic>ABCA1<\/jats:italic>\n                    gene expression. These combined findings provide insights into ABCA1-mediated regulation of cellular cholesterol metabolism and will facilitate the identification of new pharmacologic agents for the treatment of atherosclerosis in humans.\n                  <\/jats:p>","DOI":"10.1073\/pnas.97.14.7987","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:32:33Z","timestamp":1027679553000},"page":"7987-7992","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":174,"title":["Complete genomic sequence of the human\n                    <i>ABCA1<\/i>\n                    gene: Analysis of the human and mouse ATP-binding cassette A promoter"],"prefix":"10.1073","volume":"97","author":[{"given":"Silvia","family":"Santamarina-Fojo","sequence":"first","affiliation":[{"name":"National Heart, Lung, and Blood Institute, and Clinical Center, Clinical Pathology Department, National Institutes of Health, Bethesda, MD 20892; Centre d'Immunologie de Marseille-Luminy, 13288 Marseille, France; Evry Genomics Center, Aventis Pharma, 91047 Cedex, Evry, France; and Lawrence Berkeley National Laboratories, Berkeley, CA 94720"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine","family":"Peterson","sequence":"additional","affiliation":[{"name":"National Heart, Lung, and Blood Institute, and Clinical Center, Clinical Pathology Department, National Institutes of Health, Bethesda, MD 20892; Centre d'Immunologie de Marseille-Luminy, 13288 Marseille, France; Evry Genomics Center, Aventis Pharma, 91047 Cedex, Evry, France; and Lawrence Berkeley National Laboratories, Berkeley, CA 94720"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Knapper","sequence":"additional","affiliation":[{"name":"National Heart, Lung, and Blood Institute, and Clinical Center, Clinical Pathology Department, National Institutes of Health, Bethesda, MD 20892; Centre d'Immunologie de Marseille-Luminy, 13288 Marseille, France; Evry Genomics Center, Aventis Pharma, 91047 Cedex, Evry, France; 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