ABCA7: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
m (Bot: HTTP→HTTPS (v470))
imported>Rjwilmsi
m (Journal cites:,)
 
Line 8: Line 8:
== Clinical significance ==
== Clinical significance ==


Protein-disrupting variants in ABCA7 have been shown to predispose to Alzheimer's disease.<ref>{{cite journal | vauthors = Chen JA, Wang Q, Davis-Turak J, Li Y, Karydas AM, Hsu SC, Sears RL, Chatzopoulou D, Huang AY, Wojta KJ, Klein E | display-authors = 3  | title = A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy | journal = JAMA Neurology | volume = 72 | issue = 4 | pages = 414–22 | date = April 2015 | pmid = 25706306}}</ref> 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.<ref>{{cite journal | vauthors = Steinberg S, Stefansson H, Jonsson T, Johannsdottir H, Ingason A, Helgason H, Sulem P, Magnusson OT, Gudjonsson SA, Unnsteinsdottir U, Kong A, Helisalmi S, Soininen H, Lah JJ, Aarsland D, Fladby T, Ulstein ID, Djurovic S, Sando SB, White LR, Knudsen GP, Westlye LT, Selbæk G, Giegling I, Hampel H, Hiltunen M, Levey AI, Andreassen OA, Rujescu D, Jonsson PV, Bjornsson S, Snaedal J, Stefansson K | display-authors = 6  | title = Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease | journal = Nature Genetics | volume = 47 | issue = 5 | pages = 445–7 | date = May 2015 | pmid = 25807283 | doi = 10.1038/ng.3246 | laysummary = https://www.sciencenews.org/article/iceland-lays-bare-its-genomes?mode=magazine&context=190016 | laysource = ScienceNews }}</ref>
Protein-disrupting variants in ABCA7 have been shown to predispose to Alzheimer's disease.<ref>{{cite journal | vauthors = Chen JA, Wang Q, Davis-Turak J, Li Y, Karydas AM, Hsu SC, Sears RL, Chatzopoulou D, Huang AY, Wojta KJ, Klein E | display-authors = 3  | title = A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy | journal = JAMA Neurology | volume = 72 | issue = 4 | pages = 414–22 | date = April 2015 | pmid = 25706306 | doi=10.1001/jamaneurol.2014.4040 | pmc=4397175}}</ref> 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.<ref>{{cite journal | vauthors = Steinberg S, Stefansson H, Jonsson T, Johannsdottir H, Ingason A, Helgason H, Sulem P, Magnusson OT, Gudjonsson SA, Unnsteinsdottir U, Kong A, Helisalmi S, Soininen H, Lah JJ, Aarsland D, Fladby T, Ulstein ID, Djurovic S, Sando SB, White LR, Knudsen GP, Westlye LT, Selbæk G, Giegling I, Hampel H, Hiltunen M, Levey AI, Andreassen OA, Rujescu D, Jonsson PV, Bjornsson S, Snaedal J, Stefansson K | display-authors = 6  | title = Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease | journal = Nature Genetics | volume = 47 | issue = 5 | pages = 445–7 | date = May 2015 | pmid = 25807283 | doi = 10.1038/ng.3246 | laysummary = https://www.sciencenews.org/article/iceland-lays-bare-its-genomes?mode=magazine&context=190016 | laysource = ScienceNews }}</ref>


== See also ==
== See also ==
Line 19: Line 19:
{{refbegin | 2}}
{{refbegin | 2}}
* {{cite journal | vauthors = Kaminski WE, Orsó E, Diederich W, Klucken J, Drobnik W, Schmitz G | title = Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7) | journal = Biochemical and Biophysical Research Communications | volume = 273 | issue = 2 | pages = 532–8 | date = Jul 2000 | pmid = 10873640 | doi = 10.1006/bbrc.2000.2954 }}
* {{cite journal | vauthors = Kaminski WE, Orsó E, Diederich W, Klucken J, Drobnik W, Schmitz G | title = Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7) | journal = Biochemical and Biophysical Research Communications | volume = 273 | issue = 2 | pages = 532–8 | date = Jul 2000 | pmid = 10873640 | doi = 10.1006/bbrc.2000.2954 }}
* {{cite journal | vauthors = Niwa M, Maruyama H, Fujimoto T, Dohi K, Maruyama IN | title = Affinity selection of cDNA libraries by lambda phage surface display | journal = Gene | volume = 256 | issue = 1-2 | pages = 229–36 | date = Oct 2000 | pmid = 11054552 | doi = 10.1016/S0378-1119(00)00348-6 }}
* {{cite journal | vauthors = Niwa M, Maruyama H, Fujimoto T, Dohi K, Maruyama IN | title = Affinity selection of cDNA libraries by lambda phage surface display | journal = Gene | volume = 256 | issue = 1–2 | pages = 229–36 | date = Oct 2000 | pmid = 11054552 | doi = 10.1016/S0378-1119(00)00348-6 }}
* {{cite journal | vauthors = Kaminski WE, Piehler A, Schmitz G | title = Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: tandem linkage with the minor histocompatibility antigen HA-1 gene | journal = Biochemical and Biophysical Research Communications | volume = 278 | issue = 3 | pages = 782–9 | date = Nov 2000 | pmid = 11095984 | doi = 10.1006/bbrc.2000.3880 }}
* {{cite journal | vauthors = Kaminski WE, Piehler A, Schmitz G | title = Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: tandem linkage with the minor histocompatibility antigen HA-1 gene | journal = Biochemical and Biophysical Research Communications | volume = 278 | issue = 3 | pages = 782–9 | date = Nov 2000 | pmid = 11095984 | doi = 10.1006/bbrc.2000.3880 }}
* {{cite journal | vauthors = 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 | title = Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjögren's Syndrome | journal = Biochemical and Biophysical Research Communications | volume = 283 | issue = 5 | pages = 1019–25 | date = May 2001 | pmid = 11355874 | doi = 10.1006/bbrc.2001.4891 }}
* {{cite journal | vauthors = 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 | title = Human ABCA1 contains a large amino-terminal extracellular domain homologous to an epitope of Sjögren's Syndrome | journal = Biochemical and Biophysical Research Communications | volume = 283 | issue = 5 | pages = 1019–25 | date = May 2001 | pmid = 11355874 | doi = 10.1006/bbrc.2001.4891 }}
* {{cite journal | vauthors = 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 | title = Comparative analysis of the promoter structure and genomic organization of the human and mouse ABCA7 gene encoding a novel ABCA transporter | journal = Cytogenetics and Cell Genetics | volume = 92 | issue = 3-4 | pages = 264–70 | year = 2001 | pmid = 11435699 | doi = 10.1159/000056914 }}
* {{cite journal | vauthors = 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 | title = Comparative analysis of the promoter structure and genomic organization of the human and mouse ABCA7 gene encoding a novel ABCA transporter | journal = Cytogenetics and Cell Genetics | volume = 92 | issue = 3–4 | pages = 264–70 | year = 2001 | pmid = 11435699 | doi = 10.1159/000056914 }}
* {{cite journal | vauthors = Iida A, Saito S, Sekine A, Mishima C, Kitamura Y, Kondo K, Harigae S, Osawa S, Nakamura Y | title = 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 = Journal of Human Genetics | volume = 47 | issue = 6 | pages = 285–310 | year = 2002 | pmid = 12111378 | doi = 10.1007/s100380200041 }}
* {{cite journal | vauthors = Iida A, Saito S, Sekine A, Mishima C, Kitamura Y, Kondo K, Harigae S, Osawa S, Nakamura Y | title = 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 = Journal of Human Genetics | volume = 47 | issue = 6 | pages = 285–310 | year = 2002 | pmid = 12111378 | doi = 10.1007/s100380200041 }}
* {{cite journal | vauthors = Wang N, Lan D, Gerbod-Giannone M, Linsel-Nitschke P, Jehle AW, Chen W, Martinez LO, Tall AR | title = ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I and mediates cellular phospholipid but not cholesterol efflux | journal = The Journal of Biological Chemistry | volume = 278 | issue = 44 | pages = 42906–12 | date = Oct 2003 | pmid = 12917409 | doi = 10.1074/jbc.M307831200 }}
* {{cite journal | vauthors = Wang N, Lan D, Gerbod-Giannone M, Linsel-Nitschke P, Jehle AW, Chen W, Martinez LO, Tall AR | title = ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I and mediates cellular phospholipid but not cholesterol efflux | journal = The Journal of Biological Chemistry | volume = 278 | issue = 44 | pages = 42906–12 | date = Oct 2003 | pmid = 12917409 | doi = 10.1074/jbc.M307831200 }}

Latest revision as of 12:08, 4 March 2018

VALUE_ERROR (nil)
Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

n/a

n/a

Ensembl

n/a

n/a

UniProt

n/a

n/a

RefSeq (mRNA)

n/a

n/a

RefSeq (protein)

n/a

n/a

Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

ATP-binding cassette sub-family A member 7 is a protein that in humans is encoded by the ABCA7 gene.[1]

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]

Clinical significance

Protein-disrupting variants in ABCA7 have been shown to predispose to Alzheimer's disease.[2] 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.[3]

See also

References

  1. ↑ 1.0 1.1 "Entrez Gene: ABCA7 ATP-binding cassette, sub-family A (ABC1), member 7".
  2. ↑ Chen JA, Wang Q, Davis-Turak J, et al. (April 2015). "A multiancestral genome-wide exome array study of Alzheimer disease, frontotemporal dementia, and progressive supranuclear palsy". JAMA Neurology. 72 (4): 414–22. doi:10.1001/jamaneurol.2014.4040. PMC 4397175. PMID 25706306.
  3. ↑ Steinberg S, Stefansson H, Jonsson T, Johannsdottir H, Ingason A, Helgason H, et al. (May 2015). "Loss-of-function variants in ABCA7 confer risk of Alzheimer's disease". Nature Genetics. 47 (5): 445–7. doi:10.1038/ng.3246. PMID 25807283. Lay summary – ScienceNews.

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

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

Retrieved from "https://www.wikidoc.org/index.php?title=ABCA7&oldid=1529883"