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Phospholipid transporters ABCA1 and ABCA7

  • Gerd Schmitz
  • Wolfgang E. Kaminski

Abstract

So far, a total of 12 genes have been assigned to the ABCA subclass of ABC tran sporters (Dean et al. 2001). The complete human coding regions and genomic structures have been determined for seven transporters of this subfamily. In addition to the prototypic members ABCA1 (Langman et al. 1999) and ABCA2 (Kaminski et al. 2001a), these include ABCA3 (Connors et al. 1997), ABCA4 (ABCR) (Chapter 20), ABCA6 (Kaminski et al. 2001b), ABCA7 (Kaminski et al. 2000a), and ABCA9 (Piehler et al. 2002). Among the ABCA proteins, two members, ABCA1 and ABCA4, have been directly linked to human disease. Evidence has accumulated to sugges t that ABCA1 functions as a facilitator of cellular cholesterol and phospholipid transport (Órso et al. 2000) and ABCA4 plays a pivotal role in retinaldehyde processing (Chapter 20).

Keywords

Graft Versus Host Disease ABCA1 Expression Minor Histocompatibility Antigen Tangier Disease Death Domain Protein 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Aiello, R.J., Brees, D., Bourassa, P.A., Royer, L., Lindsey, S., Coskran, T., et al. (2002). Increased Atherosclerosis in Hyperlipidemic Mice with Inactivation of ABCA1 in Macrophages. Arterioscler. Thromb. Vase. Biol., 22, 630–637.CrossRefGoogle Scholar
  2. Bellincarmpi, L., Simone, M.L., Motti, C., Cortese, C., Bernardini, S., Bertolini, S., et al. (2001). Identification of an Alternative Transcript of ABCA1 Gene in Different Human Cell Types. Biochem. Biophys. Res. Communi., 283, 590–597.CrossRefGoogle Scholar
  3. Bodzioch, M., Orsó, E., Klucken, J., Böttcher, A., Diederich, W., Drobnik, W, et al. (1992). The ATP Binding Cassette Transporter-1 Gene (ABCA1) Is Mutated in Familial HDL Deficiency (Tangier Disease). Nat. Genet., 22, 347–351.Google Scholar
  4. Büchler, C., Böttcher, A., Bared, S.M., Probst, M.C., and Schmitz, G. (2002a). The Carboxyterminus of the ATP-Binding Cassette Transporter A1 Interacts with a β2-Syntrophin/Utrophin Complex. Biochem. Biophys. Res. Commun., 293, 759–765.CrossRefGoogle Scholar
  5. Büchler, C., MaaBared, S., Aslanidis, C., Ritter, M., Drobnik, W., and Schmitz, G. (2002b). Molecular and Functional Interaction of the ATP Binding Cassette Transporter A1 with Fas-Associated Death Domain Protein. J. Biol. Chem., 277. 41307–41310.CrossRefGoogle Scholar
  6. Chawla, A., Boisvert, W.A., Lee, C.H., Laffitte, B.A.Google Scholar
  7. Barak, Y., Joseph, S.B., et al. (2001). A PPAR Gamma-LXR-ABCA1 Pathway in Macrophages is Involved in Cholesterol Efflux and Atherogenesis. Mol. Cell, 7, 161–171.PubMedCrossRefGoogle Scholar
  8. Connors, TD., Van Raay, T.J., Petry, L.R., Klinger, K.W., Landes, G.M., and Burn, T.C. (1997). The Cloning of a Human ABC Gene (ABC3) Mapping to Chromosome 16p13.3. Genomics, 39, 231–234.PubMedCrossRefGoogle Scholar
  9. Dean, M., Hamon, Y, and Chimini, G. (2001). The Human ATP-Binding Cassette (ABC) Transporter Superfamily. J. Lipid Res., 42, 1007–1017.PubMedGoogle Scholar
  10. den Haan, J.M., Meadows, L.M., Wang, W., Pool, J., Blokland, E., Bishop, T.L., et al. (1998). The Minor Histocompatibility Antigen HA-1: A Diallelic Gene with a Single Amino Acid Polymorphism. Science, 279, 1054–1057.CrossRefGoogle Scholar
  11. Diederich, W., Orsó, E., Drobnik, W., and Schmitz, G. (2001). Apolipoprotein A1 and HDL(3) Inhibit Spreading of Primary Human Monocytes through a Mechanism that Involves Cholesterol Depletion and Regulation of CDC42. Atherosclerosis, 159, 313–324.PubMedCrossRefGoogle Scholar
  12. Drobnik, W., Borsukova, H., Böttcher, A., Pfeiffer, A., Liebisch, G., Schutz, G.J., et al. (2002). Apo AI/ABCA1-Dependent and HDL3-Mediated Lipid Efflux from Compositionally Distinct Cholesterol-Based Microdomains. Traffic, 3, 268–278.PubMedCrossRefGoogle Scholar
  13. Gan, X., Kaplan, R., Menke, J.G., MacNaul, K., Chen, Y., Sparrow, C.P., et al. (2001). Dual Mechanisms of ABCA1 Regulation by Geranylgeranyl Pyrophosphate. J. Biol. Chem., 276, 48702–48708.PubMedCrossRefGoogle Scholar
  14. Goulmy, E., Schipper, R., Pool, J., Blokland, E., Falkenburg, J.H., Vossen, J., et al. (1996). Mismatches of Minor Histocompatibility Antigens between HLA-Identical Donors and Recipients and the Development of Graft-versus-Host Disease after Bone Marrow Transplantation. N. Engl. J. Med., 334, 281–285.PubMedCrossRefGoogle Scholar
  15. Hansen, J.A., Gooley, T.A., Martin, P.J., Appelbaum, E., Chauncey, T.R., Clift, R.A., et al. (1998). Bone Marrow Transplants from Unrelated Donors for Patients with Chronic Myeloid Leukemia. N. Engl. J. Medi., 338, 962–968.CrossRefGoogle Scholar
  16. Kaminski, W.E., Orsó E., Diederich, W., Klucken, J., Drobnik, W., and Schmitz, G. (2000a). Identification of a Novel Human Sterol-Sensitive ATP-Binding Cassette Transporter (ABCA7). Biochem. Biophys. Res Commun., 273, 532–538PubMedCrossRefGoogle Scholar
  17. Kaminski, W.E., Piehler, A., and Schmitz, G. (2000b). Genomic Organization of the Human Cholesterol-Responsive ABC Transporter ABCA7: Tandem Linkage with the Minor Histocompatibility Antigen HA-1 Gene. Biochem. Biophys. Res. Commun., 278, 782–789.PubMedCrossRefGoogle Scholar
  18. Kaminski, W.E., Piehler, A., Püllmann, K., Porsch-Ozcurumez, M., Duong, C., Maa Bared, G., et al. (2001 a). Complete Coding Sequence, Promoter Region, and Genomic Structure of the Human ABCA2 Gene and Evidence for Sterol-Dependent Regulation in Macrophages. Biochem. Biophys. Res. Commun., 281, 249–258.PubMedCrossRefGoogle Scholar
  19. Kaminski, W.E., Wenzel, J.J., Piehler, A., Langmann, T., and Schmitz, G. (2001b). ABCA6, a Novel a Subclass ABC Transporter. Biochem. Biophys. Res. Commun., 285, 1295–1301.PubMedCrossRefGoogle Scholar
  20. Klucken, J., Büchler, C., Orsó, E., Kaminski, W.E., Porsch-Özcürümcz, M., Liebisch, G., et al. (2000). ABCG1 (ABC8), the Human Homolog of the Drosophila White Gene, is a Regulator of Macrophage Cholesterol and Phospholipid Transport. Proc. Nat Acad. Sci. USA, 97, 817–822.PubMedCrossRefGoogle Scholar
  21. Langmann, T., Klucken, J., Reil, M., Liebisch, G., Luciani, M.-F., Chimini, G., et al. Molecular Cloning of the Human ATP-Binding Cassette Transporter 1 (hABC1): Evidence for Sterol-Dependent Regulation in Macrophages. Biochem. Biophys. Res. Commun., 257, 29–33.Google Scholar
  22. Langmann, T., Porsch-Ozcurumez, M., Heimerl, S., Probst, M., Moehle, C., Taher, M., et al. (2002). Identilication of Sterol-Independent Regulatory Elements in the Human ATP-Binding Cassette Transporter A1 Promoter: Role of Sp1/3, E-Box Binding Factors, and an Oncostatin M-Responsive Element. J. Biol. Chem., 277, 14443–14450.PubMedCrossRefGoogle Scholar
  23. Lawn, R.M., Wade, D.P., Garvin, M.R., Wang, X., Schwartz, K., Porter, J.G., et al. (1999). The Tangier Disease Gene Product ABC1 Controls the Cellular Apolipoprotein-Mediated Lipid Removal Pathway. J. Clin. Invest., 104, R25–31.PubMedCrossRefGoogle Scholar
  24. Luciani, M.-F., Denizot, F., Savary, S., Mattei, M.G., and Chimini, G. (1994). Cloning of Two Novel ABC Transporters Mapping on Human Chromosome 9. Genomics, 21, 150–159.PubMedCrossRefGoogle Scholar
  25. Nagase, T, Seki, N., Ishikawa, K., Ohira, M., Kawarabayasi, Y., Ohara, O., et al. (1996). Prediction of the Coding Sequences of Unidentilied Human Genes. VI. The Coding Sequences of 80 New Genes (KIAA0201-KIAA0280) Deduced by Analysis of cDNA Clones from Cell Line KG-1 and Brain. DNA Res., 3, 321–329.PubMedCrossRefGoogle Scholar
  26. Orsó, E., Broccardo, C., Kaminski, W.E., B:ottcher A., Liebisch, G., Drobnik, W., et al. (2000). Transport of Lipids from Golgi to Plasma Membrane is Defective in Tangier Disease Patients and Abc1 Delicient Mice. Nat. Genet., 24, 192–196.PubMedCrossRefGoogle Scholar
  27. Piehler, A., Kaminski, W.E., Wenzel, J.J., Langmann, T., and Schmitz, G. (2002). Molecular Structure of a Novel Cholesterol-Responsive A Subclass ABC Transporter, ABCA9. Biochem. Biophys. Res. Commun., 295, 408–416.PubMedCrossRefGoogle Scholar
  28. Porsch-Ozcurumez, M., Langmann, T., Heimerl, S., Borsukova, H., Kaminski, W.E., Drobnik, W., et al. (2001). The Zinc Finger Protein 202 (ZNF202) Is a Transcriptional Repressor of ATP Binding Cassette Transporter A1 (ABCA1) and ABCG1 Gene Expression and a Modulator of Cellular Lipid Efflux. J. Biol. Chem., 276, 12427–12433.PubMedCrossRefGoogle Scholar
  29. Raybould, M.C., Birley, A.J., Moss, C., Hulten, M., and McKeown, C.M.E. (1994). Exclusion of an Elastin Gene (ELN) Mutation as the Cause of Pseudoxanthoma Elasticum (PXE) in One Family. Clin. Genet., 45, 48–51.PubMedCrossRefGoogle Scholar
  30. Santamarina-Fojo, S., Peterson, K., Knapper, C., Qiu, Y., Freeman, L., Cheng, J.F., et al. (2000). Complete Genomic Sequence of the Human ABCA1 Gene: Analysis of the Human and Mouse ATP-Binding Cassette A Promoter. Proc Nat Acad. Sci. USA, 97, 7987–7992.PubMedCrossRefGoogle Scholar
  31. Schmitz, G. and Kaminski, W.E. (2002). ATP-Binding Cassette (ABC) Transporters in Atherosclerosis. Curr. Atheroscler. Rep., 4, 243–251.PubMedCrossRefGoogle Scholar
  32. Schmitz, G., Kaminski, W E., and Orsó, E. (2000). ABC Transporters in Cellular Lipid Trafficking. Curr. Opin. Lipidol., 11, 493–501.PubMedCrossRefGoogle Scholar
  33. Singaraja, R.R., Fievet, C., Castro, G., James, E.R., Hennuyer, N., Clee, S.M., et al. (2002). Increased ABCA1 Activity Protects against Atherosclerosis. J. Clin. Invest., 110, 35–42.PubMedGoogle Scholar
  34. van Eck, M., Bos, I.S., Kaminski, W.E., Orsó, E., Rothe, G., Twisk, J., et al. (2002 ). Leukocyte ABCA1 Controls Susceptibility to Athero sclerosis and Macrophage Recruitment into Tissues. Proc. Natl Acad. Sci. USA, 99, 6298–6303.PubMedCrossRefGoogle Scholar
  35. van Helvoort, A., Smith, A.J., Sprong, H., Fritzsche, I., Schinkel, A.H., Borst, P., et al. (1996). MDR1 P-glycoprotein is a Lipid Translocase of Broad Specilicity, while MDR3 P-Glycoprotein Specilically Translocates Phosphatidylcholine. Cell, 87, 507–517.PubMedCrossRefGoogle Scholar
  36. Yamano, G., Funahashi, H., Kawanami, O., Zhao, L.X.Google Scholar
  37. Ban, N., Uchida, Y., et al. (2001). ABCA3 is a Lamellar Body Membrane Protein in Human Lung Alveolar Type II Cells. FEBS Lett., 508, 221–225.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2003

Authors and Affiliations

  • Gerd Schmitz
    • 1
  • Wolfgang E. Kaminski
  1. 1.Institute for Clinical Chemistry and Laboratory MedicineUniversity Hospital RegensburgRegensburgGermany

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