ABCA7

ABCA7
Identifiers
Aliases	ABCA7, ABCA-SSN, ABCX, AD9, ATP binding cassette subfamily A member 7
External IDs	OMIM: 605414; MGI: 1351646; HomoloGene: 22783; GeneCards: ABCA7; OMA:ABCA7 - orthologs
Gene location (Human) Chr. Chromosome 19 (human) Band 19p13.3 Start 1,040,101 bp End 1,065,572 bp
Gene location (Mouse) Chr. Chromosome 10 (mouse) Band 10 C1|10 39.72 cM Start 79,832,328 bp End 79,851,406 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in anterior pituitary blood spleen minor salivary glands monocyte lymph node upper lobe of left lung right lung bone marrow cells right lobe of thyroid gland Top expressed in interventricular septum superior cervical ganglion blood islet of Langerhans bone marrow intestinal villus trigeminal ganglion cerebellar cortex facial motor nucleus spleen More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding ATPase activity ATP binding phosphatidylserine floppase activity phosphatidylcholine floppase activity apolipoprotein A-I receptor activity transporter activity ATPase-coupled transmembrane transporter activity lipid transporter activity protein binding Cellular component integral component of membrane endosome Golgi apparatus early endosome membrane intracellular membrane-bounded organelle membrane ATP-binding cassette (ABC) transporter complex Golgi membrane plasma membrane cell junction phagocytic cup cell surface ruffle membrane glial cell projection cytoplasm endoplasmic reticulum cell projection Biological process high-density lipoprotein particle assembly cholesterol efflux phagocytosis phospholipid translocation memory positive regulation of cholesterol efflux peptide cross-linking phospholipid efflux protein localization to nucleus apolipoprotein A-I-mediated signaling pathway negative regulation of amyloid precursor protein biosynthetic process positive regulation of phagocytosis positive regulation of ERK1 and ERK2 cascade positive regulation of amyloid-beta clearance positive regulation of engulfment of apoptotic cell negative regulation of amyloid-beta formation positive regulation of phospholipid efflux transmembrane transport lipid transport amyloid-beta formation negative regulation of endocytosis amyloid-beta clearance by cellular catabolic process regulation of amyloid precursor protein catabolic process plasma membrane raft organization positive regulation of protein localization to cell surface Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10347 27403 Ensembl ENSG00000064687 ENSMUSG00000035722 UniProt Q8IZY2 Q91V24 RefSeq (mRNA) NM_019112 NM_033308 NM_013850 NM_001347081 RefSeq (protein) NP_061985 NP_001334010 NP_038878 Location (UCSC) Chr 19: 1.04 – 1.07 Mb Chr 10: 79.83 – 79.85 Mb PubMed search
Wikidata
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ATP-binding cassette sub-family A member 7 is a protein that in humans is encoded by the ABCA7 gene.

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.

Clinical significance

Protein-disrupting variants in ABCA7 have been shown to predispose to Alzheimer's disease. The Icelandic database of Decode Genetics has shown a doubled probability of developing Alzheimer's disease when inactive variants of the ABCA7 gene are present.

See also

• ATP-binding cassette transporter

Further reading

• Kaminski WE, Orsó E, Diederich W, Klucken J, Drobnik W, Schmitz G (Jul 2000). "Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7)". Biochemical and Biophysical Research Communications. 273 (2): 532–8. doi:10.1006/bbrc.2000.2954. PMID 10873640.
• Niwa M, Maruyama H, Fujimoto T, Dohi K, Maruyama IN (Oct 2000). "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 (Nov 2000). "Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: tandem linkage with the minor histocompatibility antigen HA-1 gene". Biochemical and Biophysical Research Communications. 278 (3): 782–9. doi:10.1006/bbrc.2000.3880. PMID 11095984.
• Tanaka AR, Ikeda Y, Abe-Dohmae S, Arakawa R, Sadanami K, Kidera A, Nakagawa S, Nagase T, Aoki R, Kioka N, Amachi T, Yokoyama S, Ueda K (May 2001). "Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjögren's Syndrome". Biochemical and Biophysical Research Communications. 283 (5): 1019–25. doi:10.1006/bbrc.2001.4891. PMID 11355874.
• Broccardo C, Osorio J, Luciani MF, Schriml LM, Prades C, Shulenin S, Arnould I, Naudin L, Lafargue C, Rosier M, Jordan B, Mattei MG, Dean M, Denèfle P, Chimini G (2001). "Comparative analysis of the promoter structure and genomic organization of the human and mouse ABCA7 gene encoding a novel ABCA transporter". Cytogenetics and Cell Genetics. 92 (3–4): 264–70. doi:10.1159/000056914. PMID 11435699.
• Iida A, Saito S, Sekine A, Mishima C, Kitamura Y, Kondo K, Harigae S, Osawa S, Nakamura Y (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". Journal of Human Genetics. 47 (6): 285–310. doi:10.1007/s100380200041. PMID 12111378.
• Wang N, Lan D, Gerbod-Giannone M, Linsel-Nitschke P, Jehle AW, Chen W, Martinez LO, Tall AR (Oct 2003). "ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I and mediates cellular phospholipid but not cholesterol efflux". The Journal of Biological Chemistry. 278 (44): 42906–12. doi:10.1074/jbc.M307831200. PMID 12917409.
• Kielar D, Kaminski WE, Liebisch G, Piehler A, Wenzel JJ, Möhle C, Heimerl S, Langmann T, Friedrich SO, Böttcher A, Barlage S, Drobnik W, Schmitz G (Sep 2003). "Adenosine triphosphate binding cassette (ABC) transporters are expressed and regulated during terminal keratinocyte differentiation: a potential role for ABCA7 in epidermal lipid reorganization". The Journal of Investigative Dermatology. 121 (3): 465–74. doi:10.1046/j.1523-1747.2003.12404.x. PMID 12925201.
• Abe-Dohmae S, Ikeda Y, Matsuo M, Hayashi M, Okuhira K, Ueda K, Yokoyama S (Jan 2004). "Human ABCA7 supports apolipoprotein-mediated release of cellular cholesterol and phospholipid to generate high density lipoprotein". The Journal of Biological Chemistry. 279 (1): 604–11. doi:10.1074/jbc.M309888200. PMID 14570867.
• Ikeda Y, Abe-Dohmae S, Munehira Y, Aoki R, Kawamoto S, Furuya A, Shitara K, Amachi T, Kioka N, Matsuo M, Yokoyama S, Ueda K (Nov 2003). "Posttranscriptional regulation of human ABCA7 and its function for the apoA-I-dependent lipid release". Biochemical and Biophysical Research Communications. 311 (2): 313–8. doi:10.1016/j.bbrc.2003.10.002. PMID 14592415.
• Fu GK, Wang JT, Yang J, Au-Young J, Stuve LL (Jul 2004). "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, Ueda K, Yokoyama S (Aug 2005). "Heterogeneity of high density lipoprotein generated by ABCA1 and ABCA7". Journal of Lipid Research. 46 (8): 1703–11. doi:10.1194/jlr.M500092-JLR200. PMID 15930518.
• Jehle AW, Gardai SJ, Li S, Linsel-Nitschke P, Morimoto K, Janssen WJ, Vandivier RW, Wang N, Greenberg S, Dale BM, Qin C, Henson PM, Tall AR (Aug 2006). "ATP-binding cassette transporter A7 enhances phagocytosis of apoptotic cells and associated ERK signaling in macrophages". The Journal of Cell Biology. 174 (4): 547–56. doi:10.1083/jcb.200601030. PMC 2064260. PMID 16908670.

External links

• ABCA7+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• ABCA7 human gene location in the UCSC Genome Browser.
• ABCA7 human gene details in the UCSC Genome Browser.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.