Genomes and Genes
atp binding cassette transporter 1
Summary: A superfamily of large integral ATP-binding cassette membrane proteins whose expression pattern is consistent with a role in lipid (cholesterol) efflux. It is implicated in TANGIER DISEASE characterized by accumulation of cholesteryl ester in various tissues.
- Olivier M, BottG R, Frisdal E, Nowick M, Plengpanich W, Desmarchelier C, et al. ABCG1 is involved in vitamin E efflux. Biochim Biophys Acta. 2014;1841:1741-51 pubmed..Overall, the present study reveals for the first time that ABCG1 is involved in cellular vitamin E efflux. ..
- Singaraja R, Tietjen I, Hovingh G, Franchini P, Radomski C, Wong K, et al. Identification of four novel genes contributing to familial elevated plasma HDL cholesterol in humans. J Lipid Res. 2014;55:1693-701 pubmed publisher..Taken together, we have identified mutations in four novel genes that may play a role in regulating HDLc levels in humans. ..
- Fond A, Lee C, Schulman I, Kiss R, Ravichandran K. Apoptotic cells trigger a membrane-initiated pathway to increase ABCA1. J Clin Invest. 2015;125:2748-58 pubmed publisher..Collectively, these data identify a membrane-initiated pathway that is triggered by apoptotic cells to enhance ABCA1 within engulfing phagocytes and with functional consequences in vivo. ..
- He J, Zhang G, Pang Q, Yu C, Xiong J, Zhu J, et al. SIRT6 reduces macrophage foam cell formation by inducing autophagy and cholesterol efflux under ox-LDL condition. FEBS J. 2017;284:1324-1337 pubmed publisher..These data imply that SIRT6 plays an essential role in protecting against atherosclerosis by reducing foam cell formation through an autophagy-dependent pathway. ..
- Zhang H, Shi J, Hachet M, Xue C, Bauer R, Jiang H, et al. CRISPR/Cas9-Mediated Gene Editing in Human iPSC-Derived Macrophage Reveals Lysosomal Acid Lipase Function in Human Macrophages-Brief Report. Arterioscler Thromb Vasc Biol. 2017;37:2156-2160 pubmed publisher..CRISPR/Cas9 and IPSDM provide important tools to study human macrophage biology and more broadly for future studies of disease-associated LIPA genetic variation in human macrophages. ..
- Sviridov D. Many ABCs make light work with cholesterol. Aging (Albany NY). 2013;5:637-8 pubmed
- Morizawa Y, Hirayama Y, Ohno N, Shibata S, Shigetomi E, Sui Y, et al. Reactive astrocytes function as phagocytes after brain ischemia via ABCA1-mediated pathway. Nat Commun. 2017;8:28 pubmed publisher..Here the authors show that following brain ischemia, reactive astrocytes become phagocytic and engulf debris via the ABCA1 pathway. ..
- Halalkhor S, Mesbah Namin S, Daneshpour M, Hedayati M, Azizi F. Association of ATP-binding cassette transporter-A1 polymorphism with apolipoprotein AI level in Tehranian population. J Genet. 2011;90:129-32 pubmed
- Marinozzi M, Castro Navas F, Maggioni D, Carosati E, Bocci G, Carloncelli M, et al. Side-Chain Modified Ergosterol and Stigmasterol Derivatives as Liver X Receptor Agonists. J Med Chem. 2017;60:6548-6562 pubmed publisher..51 ?M). Interestingly, 13, 19, 20, and 25 showed to be LXR target gene-selective modulators, by strongly inducing the expression of ABCA1, while poorly or not activating the lipogenic genes SREBP1 and SCD1 or FASN, respectively. ..
- Minuz P, Meneguzzi A, Femia E, Fava C, Calabria S, Scavone M, et al. Reduced platelet count, but no major platelet function abnormalities, are associated with loss-of-function ATP-binding cassette-1 gene mutations. Clin Sci (Lond). 2017;131:2095-2107 pubmed publisher..In conclusion, three patients carrying ABCA1 genetic variants had low platelet count, with the lowest values observed in TD, not associated with major alterations in platelet morphology and response to agonists or bleeding. ..
- Liang B, Wang X, Song X, Bai R, Yang H, Yang Z, et al. MicroRNA-20a/b regulates cholesterol efflux through post-transcriptional repression of ATP-binding cassette transporter A1. Biochim Biophys Acta Mol Cell Biol Lipids. 2017;1862:929-938 pubmed publisher..miR-20 is a new miRNA capable of targeting ABCA1 and regulating ABCA1 expression. Therefore, miR-20 inhibition constitutes a new strategy for ABCA1-based treatment of atherosclerosis. ..
- Qian H, Zhao X, Cao P, Lei J, Yan N, Gong X. Structure of the Human Lipid Exporter ABCA1. Cell. 2017;169:1228-1239.e10 pubmed publisher..Structural-based analysis suggests a plausible "lateral access" mechanism for ABCA1-mediated lipid export that may be distinct from the conventional alternating-access paradigm. ..
- Villalobos Comparan M, Antuna Puente B, Villarreal Molina M, Canizales Quinteros S, Velázquez Cruz R, León Mimila P, et al. Interaction between FTO rs9939609 and the Native American-origin ABCA1 rs9282541 affects BMI in the admixed Mexican population. BMC Med Genet. 2017;18:46 pubmed publisher..This is the first report showing evidence of FTO and ABCA1 gene variant interactions affecting BMI, which may explain previously reported population differences. Further studies are needed to confirm this interaction. ..