ABCA7
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| ATP-binding cassette, sub-family A (ABC1), member 7 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | ABCA7; ABCA-SSN; ABCX; FLJ40025 | ||||||||||||
| External IDs | OMIM: 605414 MGI: 1351646 HomoloGene: 22783 GeneCards: ABCA7 Gene | ||||||||||||
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| RNA expression pattern | |||||||||||||
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| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 10347 | 27403 | |||||||||||
| Ensembl | ENSG00000064687 | ENSMUSG00000035722 | |||||||||||
| UniProt | Q8IZY2 | Q8R1I3 | |||||||||||
| RefSeq (mRNA) | NM_019112 | NM_013850.1 | |||||||||||
| RefSeq (protein) | NP_061985 | NP_038878.1 | |||||||||||
| Location (UCSC) | Chr 19: 1.04 – 1.07 Mb |
Chr 10: 79.46 – 79.48 Mb |
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| PubMed search | [1] | [2] | |||||||||||
ATP-binding cassette sub-family A member 7 is a protein that in humans is encoded by the ABCA7 gene.[1]
Contents |
[edit] Function
The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, CFTR/MRP, ALD (adrenoleukodystrophy), OABP, GCN20, and White. This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This full transporter has been detected predominantly in myelo-lymphatic tissues with the highest expression in peripheral leukocytes, thymus, spleen, and bone marrow. The function of this protein is not yet known; however, the expression pattern suggests a role in lipid homeostasis in cells of the immune system. Alternative splicing of this gene results in two transcript variants.[1]
[edit] See also
[edit] References
[edit] Further reading
- Kaminski WE, Orsó E, Diederich W, et al. (2000). "Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7).". Biochem. Biophys. Res. Commun. 273 (2): 532–8. doi:10.1006/bbrc.2000.2954. PMID 10873640.
- Niwa M, Maruyama H, Fujimoto T, et al. (2001). "Affinity selection of cDNA libraries by lambda phage surface display.". Gene 256 (1–2): 229–36. doi:10.1016/S0378-1119(00)00348-6. PMID 11054552.
- Kaminski WE, Piehler A, Schmitz G (2001). "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 (3): 782–9. doi:10.1006/bbrc.2000.3880. PMID 11095984.
- Tanaka AR, Ikeda Y, Abe-Dohmae S, et al. (2001). "Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjögren's Syndrome". Biochem. Biophys. Res. Commun. 283 (5): 1019–25. doi:10.1006/bbrc.2001.4891. PMID 11355874.
- Broccardo C, Osorio J, Luciani MF, et al. (2001). "Comparative analysis of the promoter structure and genomic organization of the human and mouse ABCA7 gene encoding a novel ABCA transporter". Cytogenet. Cell Genet. 92 (3–4): 264–70. doi:10.1159/000056914. PMID 11435699.
- Iida A, Saito S, Sekine A, et al. (2002). "Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8". J. Hum. Genet. 47 (6): 285–310. doi:10.1007/s100380200041. PMID 12111378.
- Wang N, Lan D, Gerbod-Giannone M, et al. (2003). "ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I and mediates cellular phospholipid but not cholesterol efflux". J. Biol. Chem. 278 (44): 42906–12. doi:10.1074/jbc.M307831200. PMID 12917409.
- Kielar D, Kaminski WE, Liebisch G, et al. (2003). "Adenosine triphosphate binding cassette (ABC) transporters are expressed and regulated during terminal keratinocyte differentiation: a potential role for ABCA7 in epidermal lipid reorganization". J. Invest. Dermatol. 121 (3): 465–74. doi:10.1046/j.1523-1747.2003.12404.x. PMID 12925201.
- Abe-Dohmae S, Ikeda Y, Matsuo M, et al. (2004). "Human ABCA7 supports apolipoprotein-mediated release of cellular cholesterol and phospholipid to generate high density lipoprotein". J. Biol. Chem. 279 (1): 604–11. doi:10.1074/jbc.M309888200. PMID 14570867.
- Ikeda Y, Abe-Dohmae S, Munehira Y, et al. (2004). "Posttranscriptional regulation of human ABCA7 and its function for the apoA-I-dependent lipid release". Biochem. Biophys. Res. Commun. 311 (2): 313–8. doi:10.1016/j.bbrc.2003.10.002. PMID 14592415.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Fu GK, Wang JT, Yang J, et al. (2005). "Circular rapid amplification of cDNA ends for high-throughput extension cloning of partial genes". Genomics 84 (1): 205–10. doi:10.1016/j.ygeno.2004.01.011. PMID 15203218.
- Hayashi M, Abe-Dohmae S, Okazaki M, et al. (2005). "Heterogeneity of high density lipoprotein generated by ABCA1 and ABCA7". J. Lipid Res. 46 (8): 1703–11. doi:10.1194/jlr.M500092-JLR200. PMID 15930518.
- Jehle AW, Gardai SJ, Li S, et al. (2006). "ATP-binding cassette transporter A7 enhances phagocytosis of apoptotic cells and associated ERK signaling in macrophages". J. Cell Biol. 174 (4): 547–56. doi:10.1083/jcb.200601030. PMC 2064260. PMID 16908670. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2064260.
[edit] External links
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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