ATP-binding cassette transporter ABCA1 (member 1 of human transporter sub-family ABCA) is 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.[1]
See also
References
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.
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Membrane proteins, carrier proteins: membrane transport proteins |
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| ABC-transporter |
A1, A2, A3, A4, A7, A8, A12
B1, B2-3, B2, B3, B4, B5, B6, B7, B9, B11
C1, C2, C3, C4, C5, C6, C8, C8-9, C10, C13, C11
D1, D2, D3, D4, E1, F1, F2
G1, G2, G4, Sterolin ( G5, G8)
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| Solute carrier |
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1-10
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1A1-7, 1A1, 1A2, 1A3, 1A4, 1A5
Glucose transporter: 2A1 (GLUT1), 2A2 (GLUT2), 2A3 (GLUT3), 2A4 (GLUT4), 2A5 (GLUT5), 2A6 (SLC2A6), 2A8 (GLUT8), 2A9, 2A10, 2A12
3A1, 3A2, 4A1, 4A2, 4A3, 4A4, 4A5, 4A7, 4A8, 4A11, 5A1-2, 5A1, 5A3, 5A5, 5A8, 6A1, 6A2, 6A3, 6A4, 6A5, 6A8, 6A9, 6A19, 7A1, 7A2, 7A3, 7A4, 7A5, 7A7, 7A8, 7A9, 7A11, 8A1-3, 9A1, 9A2, 9A3, 9A3R1, 9A3R2, 9A5, 9A6, 9A8, 10A1, 10A2, 10A3, 10A7
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11-20
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11A1, 11A2, 11A3, 12A1-2, 12A3, 12A4, 12A5, 12A6, 12A7, 14A1, 13A3, 14A2, 15A1, 15A2, 16A1, 16A2, 16A3, 16A4, 17A1, 17A5, 17A6-8, 17A7, 18A1, 18A2, 18A3, 19A1, 19A2, 19A3, 20A1, 20A2
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21-30
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22A1, 22A2, 22A3, 22A4, 22A5, 22A6, 22A7, 22A9, 22A11, 22A12, 22A18, 23A1, 23A2, 24A1-2, 24A5, 25A1, 25A3, 25A4, 25A4-6, 25A8, 25A10, 25A11, 25A12, 25A13, 25A14, 25A15, 25A17, 25A19, 25A20, 25A27, 25A31, 25A37, 25A39, 26A2, 26A3, 26A4, 26A5, 26A6, 26A7, 26A8, 27A1, 27A2, 27A3, 27A4, 28A1, 28A2, 29A1, 29A2, 29A4, 30A1, 30A4, 30A7, 30A8
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31-40
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31A1, 31A2, 32A1, 34A1, 34A2, 34A3, 35A1, 35A2, 35B2, 35B4, 35C1, 36A1, 37A4, 38A2, 38A3, 39A1, 39A2, 39A3, 39A4, 39A6, 39A7
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41-45
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O
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| Other |
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