Skip to main content
SpringerLink
Log in
Book cover

Encyclopedia of Signaling Molecules pp 54–68Cite as

ABCA Transporters

  • Reference work entry
  • First Online:

  • 287 Accesses

Synonyms

ABCA1: ABC1; ATP binding cassette 1; ATP binding cassette subfamily A member 1; ATP binding cassette transporter 1; ATP binding cassette transporter A1; CERP; Cholesterol efflux regulatory protein; HDLDT1; Membrane-bound; TGD

ABCA10: ATP binding cassette subfamily A member 10; EST698739

ABCA12: ABC12; ATP binding cassette 12; ATP binding cassette subfamily A member 12; ATP binding cassette transporter 12; ICR2B; LI2

ABCA13: ATP binding cassette transporter A13; ATP binding cassette subfamily A member 13

ABCA2: ABC2; ATP binding cassette 2; ATP binding cassette subfamily A member 2; ATP binding cassette transporter 2; KIAA1062

ABCA3: ABC transporter 3; ABC3; ABC-C transporter; ABC-C; ATP binding cassette 3; ATP binding cassette subfamily A member 3; ATP binding cassette transporter 3; EST111653; LBM180; SMDP3

ABCA4: ABC10; ABCR; ARMD2; ATP binding cassette subfamily A member 4; ATP binding cassette transporter; ATP binding cassette transporter, retinal-specific; CORD3; FFM; Phot...

This is a preview of subscription content, log in via an institution.

Chapter
USD   29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD   4,499.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD   4,499.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Learn about institutional subscriptions

References

  • Akao H, Polisecki E, Schaefer EJ, Trompet S, Robertson M, Ford I, et al. ABCA1 gene variation and heart disease risk reduction in the elderly during pravastatin treatment. Atherosclerosis. 2014;235(1):176–81. doi:10.1016/j.atherosclerosis.2014.04.030.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Albrecht C, Viturro E. The ABCA subfamily – gene and protein structures, functions and associated hereditary diseases. Pflugers Arch. 2007;453(5):581–9. doi:10.1007/s00424-006-0047-8.

    Article  PubMed  CAS  Google Scholar 

  • Allikmets R, Shroyer NF, Singh N, Seddon JM, Lewis RA, Bernstein PS, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science. 1997;277(5333):1805–7.

    Article  PubMed  CAS  Google Scholar 

  • Annilo, T., Shulenin, S., Chen, Z. Q., Arnould, I., Prades, C., Lemoine, C., … Rosier, M. (2002). Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. Cytogenet Genome Res, 98(2–3), 169–176. doi:69811

    Google Scholar 

  • Annilo T, Chen ZQ, Shulenin S, Dean M. Evolutionary analysis of a cluster of ATP-binding cassette (ABC) genes. Mamm Genome. 2003;14(1):7–20. doi:10.1007/s00335-002-2229-9.

    Article  PubMed  CAS  Google Scholar 

  • Arai E, Sakamoto H, Ichikawa H, Totsuka H, Chiku S, Gotoh M, et al. Multilayer-omics analysis of renal cell carcinoma, including the whole exome, methylome and transcriptome. Int J Cancer. 2014;135(6):1330–42. doi:10.1002/ijc.28768.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Araujo TM, Seabra AD, Lima EM, Assumpcao PP, Montenegro RC, Demachki S, et al. Recurrent amplification of RTEL1 and ABCA13 and its synergistic effect associated with clinicopathological data of gastric adenocarcinoma. Mol Cytogenet. 2016;9:52. doi:10.1186/s13039-016-0260-x.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Baecklund F, Foo JN, Bracci P, Darabi H, Karlsson R, Hjalgrim H, et al. A comprehensive evaluation of the role of genetic variation in follicular lymphoma survival. BMC Med Genet. 2014;15:113. doi:10.1186/s12881-014-0113-6.

    Article  PubMed  PubMed Central  Google Scholar 

  • Bamji-Mirza M, Li Y, Najem D, Liu QY, Walker D, Lue LF, et al. Genetic variations in ABCA7 can increase secreted levels of amyloid-beta40 and amyloid-beta42 peptides and ABCA7 transcription in cell culture models. J Alzheimers Dis. 2016;53(3):875–92. doi:10.3233/JAD-150965.

    Article  PubMed  CAS  Google Scholar 

  • Barber RC. The genetics of Alzheimer’s disease. Scientifica (Cairo). 2012;2012:246210. doi:10.6064/2012/246210.

    Article  CAS  Google Scholar 

  • Beers MF, Hawkins A, Shuman H, Zhao M, Newitt JL, Maguire JA, et al. A novel conserved targeting motif found in ABCA transporters mediates trafficking to early post-Golgi compartments. J Lipid Res. 2011;52(8):1471–82. doi:10.1194/jlr.M013284.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Biswas-Fiss EE, Kurpad DS, Joshi K, Biswas SB. Interaction of extracellular domain 2 of the human retina-specific ATP-binding cassette transporter (ABCA4) with all-trans-retinal. J Biol Chem. 2010;285(25):19372–83. doi:10.1074/jbc.M110.112896.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Biswas-Fiss EE, Affet S, Ha M, Biswas SB. Retinoid binding properties of nucleotide binding domain 1 of the Stargardt disease-associated ATP binding cassette (ABC) transporter, ABCA4. J Biol Chem. 2012;287(53):44097–107. doi:10.1074/jbc.M112.409623.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Bleasel JM, Hsiao JH, Halliday GM, Kim WS. Increased expression of ABCA8 in multiple system atrophy brain is associated with changes in pathogenic proteins. J Parasit Dis. 2013;3(3):331–9. doi:10.3233/JPD-130203.

    Article  CAS  Google Scholar 

  • Boehm-Cagan A, Bar R, Liraz O, Bielicki JK, Johansson JO, Michaelson DM. ABCA1 agonist reverses the apoE4-driven cognitive and brain pathologies. J Alzheimers Dis. 2016. doi:10.3233/JAD-160467.

    Article  PubMed  Google Scholar 

  • Boyer NP, Higbee D, Currin MB, Blakeley LR, Chen C, Ablonczy Z, et al. Lipofuscin and N-retinylidene-N-retinylethanolamine (A2E) accumulate in retinal pigment epithelium in absence of light exposure: their origin is 11-cis-retinal. J Biol Chem. 2012;287(26):22276–86. doi:10.1074/jbc.M111.329235.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Bungert S, Molday LL, Molday RS. Membrane topology of the ATP binding cassette transporter ABCR and its relationship to ABC1 and related ABCA transporters: identification of N-linked glycosylation sites. J Biol Chem. 2001;276(26):23539–46. doi:10.1074/jbc.M101902200.

    Article  PubMed  CAS  Google Scholar 

  • Carrasquillo MM, Belbin O, Hunter TA, Ma L, Bisceglio GD, Zou F, et al. Replication of EPHA1 and CD33 associations with late-onset Alzheimer’s disease: a multi-centre case-control study. Mol Neurodegener. 2011;6(1):54. doi:10.1186/1750-1326-6-54.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Chen P, Dai Y, Wu X, Wang Y, Sun S, Xiao J, et al. Mutations in the ABCA3 gene are associated with cataract-microcornea syndrome. Invest Ophthalmol Vis Sci. 2014;55(12):8031–43. doi:10.1167/iovs.14-14098.

    Article  PubMed  CAS  Google Scholar 

  • Chung SJ, Jung Y, Hong M, Kim MJ, You S, Kim YJ, et al. Alzheimer’s disease and Parkinson’s disease genome-wide association study top hits and risk of Parkinson’s disease in Korean population. Neurobiol Aging. 2013a;34(11):2695.e1–7. doi:10.1016/j.neurobiolaging.2013.05.022.

    Article  CAS  Google Scholar 

  • Chung SJ, Lee JH, Kim SY, You S, Kim MJ, Lee JY, Koh J. Association of GWAS top hits with late-onset Alzheimer disease in Korean population. Alzheimer Dis Assoc Disord. 2013b;27(3):250–7. doi:10.1097/WAD.0b013e31826d7281.

    Article  PubMed  CAS  Google Scholar 

  • Cui H, Zhang AJ, Chen M, Liu JJ. ABC transporter inhibitors in reversing multidrug resistance to chemotherapy. Curr Drug Targets. 2015;16(12):1356–71.

    Article  PubMed  CAS  Google Scholar 

  • Cukier HN, Kunkle BW, Vardarajan BN, Rolati S, Hamilton-Nelson KL, Kohli MA, et al. ABCA7 frameshift deletion associated with Alzheimer disease in African Americans. Neurol Genet. 2016;2(3):e79. doi:10.1212/NXG.0000000000000079.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Cuyvers E, De Roeck A, Van den Bossche T, Van Cauwenberghe C, Bettens K, Vermeulen S, et al. Mutations in ABCA7 in a Belgian cohort of Alzheimer’s disease patients: a targeted resequencing study. Lancet Neurol. 2015;14(8):814–22. doi:10.1016/S1474-4422(15)00133-7.

    Article  PubMed  CAS  Google Scholar 

  • Davis Jr W. The ATP-binding cassette transporter-2 (ABCA2) regulates esterification of plasma membrane cholesterol by modulation of sphingolipid metabolism. Biochim Biophys Acta. 2014;1841(1):168–79. doi:10.1016/j.bbalip.2013.10.019.

    Article  PubMed  CAS  Google Scholar 

  • Davis Jr W. The ATP-binding cassette transporter-2 (ABCA2) overexpression modulates sphingosine levels and transcription of the Amyloid Precursor Protein (APP) gene. Curr Alzheimer Res. 2015;12(9):847–59.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Dean M, Rzhetsky A, Allikmets R. The human ATP-binding cassette (ABC) transporter superfamily. Genome Res. 2001;11(7):1156–66.

    Article  PubMed  CAS  Google Scholar 

  • Del-Aguila JL, Fernandez MV, Jimenez J, Black K, Ma S, Deming Y, et al. Role of ABCA7 loss-of-function variant in Alzheimer’s disease: a replication study in European-Americans. Alzheimers Res Ther. 2015;7(1):73. doi:10.1186/s13195-015-0154-x.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • DeStefano GM, Kurban M, Anyane-Yeboa K, Dall’Armi C, Di Paolo G, Feenstra H, et al. Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth. PLoS Genet. 2014;10(5):e1004333. doi:10.1371/journal.pgen.1004333.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Elsnerova K, Mohelnikova-Duchonova B, Cerovska E, Ehrlichova M, Gut I, Rob L, et al. Gene expression of membrane transporters: importance for prognosis and progression of ovarian carcinoma. Oncol Rep. 2016;35(4):2159–70. doi:10.3892/or.2016.4599.

    Article  PubMed  CAS  Google Scholar 

  • Fasano T, Bocchi L, Pisciotta L, Bertolini S, Calandra S, et al. Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency. J Lipid Res. 2005;46:817–22.doi:10.1194/jlr.D400038-JLR200.

    Article  PubMed  CAS  Google Scholar 

  • Fitzgerald ML, Okuhira K, Short 3rd GF, Manning JJ, Bell SA, Freeman MW. ATP-binding cassette transporter A1 contains a novel C-terminal VFVNFA motif that is required for its cholesterol efflux and ApoA-I binding activities. J Biol Chem. 2004;279(46):48477–85. doi:10.1074/jbc.M409848200.

    Article  PubMed  CAS  Google Scholar 

  • Fitzgerald ML, Mujawar Z, Tamehiro N. ABC transporters, atherosclerosis and inflammation. Atherosclerosis. 2010;211(2):361–70. doi:10.1016/j.atherosclerosis.2010.01.011.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Fu Y, Hsiao JH, Paxinos G, Halliday GM, Kim WS. ABCA5 regulates amyloid-beta peptide production and is associated with Alzheimer’s disease neuropathology. J Alzheimers Dis. 2015;43(3):857–69. doi:10.3233/JAD-141320.

    Article  PubMed  CAS  Google Scholar 

  • Fu Y, Hsiao JH, Paxinos G, Halliday GM, Kim WS. ABCA7 mediates phagocytic clearance of amyloid-beta in the brain. J Alzheimers Dis. 2016;54(2):569–84. doi:10.3233/JAD-160456.

    Article  PubMed  CAS  Google Scholar 

  • Gai J, Ji M, Shi C, Li W, Chen S, Wang Y, Li H. FoxO regulates expression of ABCA6, an intracellular ATP-binding-cassette transporter responsive to cholesterol. Int J Biochem Cell Biol. 2013;45(11):2651–9. doi:10.1016/j.biocel.2013.08.020.

    Article  PubMed  CAS  Google Scholar 

  • Gao Y, Li W, Liu X, Gao F, Zhao X. Reversing effect and mechanism of soluble resistance-related calcium-binding protein on multidrug resistance in human lung cancer A549/DDP cells. Mol Med Rep. 2015;11(3):2118–24. doi:10.3892/mmr.2014.2936.

    Article  PubMed  CAS  Google Scholar 

  • Hafler BP. Clinical progress in inherited retinal degenerations: gene therapy clinical trials and advances in genetic sequencing. Retina. 2016. doi:10.1097/IAE.0000000000001341.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Hedditch EL, Gao B, Russell AJ, Lu Y, Emmanuel C, Beesley J, et al. ABCA transporter gene expression and poor outcome in epithelial ovarian cancer. J Natl Cancer Inst. 2014;106(7). doi:10.1093/jnci/dju149.

    Google Scholar 

  • Higgins CF. ABC transporters: physiology, structure and mechanism – an overview. Res Microbiol. 2001;152(3–4):205–10.

    Article  PubMed  CAS  Google Scholar 

  • Hohman TJ, Cooke-Bailey JN, Reitz C, Jun G, Naj A, Beecham GW, et al. Global and local ancestry in African-Americans: implications for Alzheimer’s disease risk. Alzheimers Dement. 2016;12(3):233–43. doi:10.1016/j.jalz.2015.02.012.

    Article  PubMed  Google Scholar 

  • Iatan I, Bailey D, Ruel I, Hafiane A, Campbell S, Krimbou L, Genest J. Membrane microdomains modulate ligand binding activity of oligomeric ABCA1 and apoA-I-mediated lipid removal: molecular evidence that ApoA-I interaction with ABCA1 activates the phosphatidylcholine biosynthesis pathway. J Lipid Res. 2011. doi:10.1194/jlr.M016196.

    Article  PubMed  PubMed Central  Google Scholar 

  • Ingram WJ, Crowther LM, Little EB, Freeman R, Harliwong I, Veleva D, et al. ABC transporter activity linked to radiation resistance and molecular subtype in pediatric medulloblastoma. Exp Hematol Oncol. 2013;2(1):26. doi:10.1186/2162-3619-2-26.

    Article  PubMed  PubMed Central  Google Scholar 

  • Januchowski R, Zawierucha P, Andrzejewska M, Rucinski M, Zabel M. Microarray-based detection and expression analysis of ABC and SLC transporters in drug-resistant ovarian cancer cell lines. Biomed Pharmacother. 2013;67(3):240–5. doi:10.1016/j.biopha.2012.11.011.

    Article  PubMed  CAS  Google Scholar 

  • Januchowski R, Zawierucha P, Rucinski M, Andrzejewska M, Wojtowicz K, Nowicki M, Zabel M. Drug transporter expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line. Biomed Pharmacother. 2014;68(4):447–53. doi:10.1016/j.biopha.2014.02.002.

    Article  PubMed  CAS  Google Scholar 

  • Kaminski WE, Piehler A, Wenzel JJ. ABC A-subfamily transporters: structure, function and disease. Biochim Biophys Acta. 2006;1762(5):510–24. doi:10.1016/j.bbadis.2006.01.011.

    Article  PubMed  CAS  Google Scholar 

  • Karatas OF, Guzel E, Duz MB, Ittmann M, Ozen M. The role of ATP-binding cassette transporter genes in the progression of prostate cancer. Prostate. 2016;76(5):434–44. doi:10.1002/pros.23137.

    Article  PubMed  CAS  Google Scholar 

  • Kim WS, Halliday GM. Changes in sphingomyelin level affect alpha-synuclein and ABCA5 expression. J Parasit Dis. 2012;2(1):41–6. doi:10.3233/JPD-2012-11059.

    Article  CAS  Google Scholar 

  • Kim WS, Weickert CS, Garner B. Role of ATP-binding cassette transporters in brain lipid transport and neurological disease. J Neurochem. 2008;104(5):1145–66. doi:10.1111/j.1471-4159.2007.05099.x.

    Article  PubMed  CAS  Google Scholar 

  • Kim WS, Hsiao JH, Bhatia S, Glaros EN, Don AS, Tsuruoka S, et al. ABCA8 stimulates sphingomyelin production in oligodendrocytes. Biochem J. 2013;452(3):401–10. doi:10.1042/BJ20121764.

    Article  PubMed  CAS  Google Scholar 

  • Knight HM, Pickard BS, Maclean A, Malloy MP, Soares DC, McRae AF, et al. A cytogenetic abnormality and rare coding variants identify ABCA13 as a candidate gene in schizophrenia, bipolar disorder, and depression. Am J Hum Genet. 2009;85(6):833–46. doi:10.1016/j.ajhg.2009.11.003.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Koochek A, Choate KA, Milstone LM. Harlequin ichthyosis: neonatal management and identification of a new ABCA12 mutation. Pediatr Dermatol. 2014;31(2):e63–4. doi:10.1111/pde.12263.

    Article  PubMed  Google Scholar 

  • Lane TS, Rempe CS, Davitt J, Staton ME, Peng Y, Soltis DE, et al. Diversity of ABC transporter genes across the plant kingdom and their potential utility in biotechnology. BMC Biotechnol. 2016;16(1):47. doi:10.1186/s12896-016-0277-6.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Liao YC, Lee WJ, Hwang JP, Wang YF, Tsai CF, Wang PN, et al. ABCA7 gene and the risk of Alzheimer’s disease in Han Chinese in Taiwan. Neurobiol Aging. 2014;35(10):2423.e7–13. doi:10.1016/j.neurobiolaging.2014.05.009.

    Article  CAS  Google Scholar 

  • Liu X, Gao Y, Zhao B, Li X, Lu Y, Zhang J, et al. Discovery of microarray-identified genes associated with ovarian cancer progression. Int J Oncol. 2015;46(6):2467–78. doi:10.3892/ijo.2015.2971.

    Article  PubMed  CAS  Google Scholar 

  • Logue MW, Schu M, Vardarajan BN, Buros J, Green RC, Go RC, et al. A comprehensive genetic association study of Alzheimer disease in African Americans. Arch Neurol. 2011;68(12):1569–79. doi:10.1001/archneurol.2011.646.

    Article  PubMed  PubMed Central  Google Scholar 

  • Ma J, Lan X, Gao N, Wang J, Hao D, Yao J, et al. A genetic association study between common variants in the ABCA13 gene and schizophrenia in a Han Chinese population. Psychiatry Res. 2013;209(3):748–9. doi:10.1016/j.psychres.2013.07.013.

    Article  PubMed  CAS  Google Scholar 

  • Mace S, Cousin E, Ricard S, Genin E, Spanakis E, Lafargue-Soubigou C, et al. ABCA2 is a strong genetic risk factor for early-onset Alzheimer’s disease. Neurobiol Dis. 2005;18(1):119–25. doi:10.1016/j.nbd.2004.09.011.

    Article  PubMed  CAS  Google Scholar 

  • Mack JT, Beljanski V, Tew KD, Townsend DM. The ATP-binding cassette transporter ABCA2 as a mediator of intracellular trafficking. Biomed Pharmacother. 2006;60(9):587–92. doi:10.1016/j.biopha.2006.07.090.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Mack JT, Brown CB, Garrett TE, Uys JD, Townsend DM, Tew KD. Ablation of the ATP-binding cassette transporter, Abca2 modifies response to estrogen-based therapies. Biomed Pharmacother. 2012;66(6):403–8. doi:10.1016/j.biopha.2012.06.007.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Mata NL, Tzekov RT, Liu X, Weng J, Birch DG, Travis GH. Delayed dark-adaptation and lipofuscin accumulation in abcr+/− mice: implications for involvement of ABCR in age-related macular degeneration. Invest Ophthalmol Vis Sci. 2001;42(8):1685–90.

    PubMed  CAS  Google Scholar 

  • Matsuzaki Y, Besnard V, Clark JC, Xu Y, Wert SE, Ikegami M, Whitsett JA. STAT3 regulates ABCA3 expression and influences lamellar body formation in alveolar type II cells. Am J Respir Cell Mol Biol. 2008;38(5):551–8. doi:10.1165/rcmb.2007-0311OC.

    Article  PubMed  CAS  Google Scholar 

  • Michaki V, Guix FX, Vennekens K, Munck S, Dingwall C, Davis JB, et al. Down-regulation of the ATP-binding cassette transporter 2 (Abca2) reduces amyloid-beta production by altering Nicastrin maturation and intracellular localization. J Biol Chem. 2012;287(2):1100–11. doi:10.1074/jbc.M111.288258.

    Article  PubMed  CAS  Google Scholar 

  • Molday RS, Beharry S, Ahn J, Zhong M. Binding of N-retinylidene-PE to ABCA4 and a model for its transport across membranes. Adv Exp Med Biol. 2006;572:465–70.

    Article  PubMed  CAS  Google Scholar 

  • Nordestgaard LT, Tybjaerg-Hansen A, Nordestgaard BG, Frikke-Schmidt R. Loss-of-function mutation in ABCA1 and risk of Alzheimer’s disease and cerebrovascular disease. Alzheimers Dement. 2015;11(12):1430–8. doi:10.1016/j.jalz.2015.04.006.

    Article  PubMed  Google Scholar 

  • Nuytemans K, Maldonado L, Ali A, John-Williams K, Beecham GW, Martin E, et al. Overlap between Parkinson disease and Alzheimer disease in ABCA7 functional variants. Neurol Genet. 2016;2(1):e44. doi:10.1212/NXG.0000000000000044.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Nymoen DA, Holth A, Hetland Falkenthal TE, Trope CG, Davidson B. CIAPIN1 and ABCA13 are markers of poor survival in metastatic ovarian serous carcinoma. Mol Cancer. 2015;14:44. doi:10.1186/s12943-015-0317-1.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Ohtsuki S, Kamoi M, Watanabe Y, Suzuki H, Hori S, Terasaki T. Correlation of induction of ATP binding cassette transporter A5 (ABCA5) and ABCB1 mRNAs with differentiation state of human colon tumor. Biol Pharm Bull. 2007;30(6):1144–6.

    Article  PubMed  CAS  Google Scholar 

  • Ordovas JM. ABC1: the gene for Tangier disease and beyond. Nutr Rev. 2000;58(3 Pt 1):76–9.

    PubMed  CAS  Google Scholar 

  • Peca D, Cutrera R, Masotti A, Boldrini R, Danhaive O. ABCA3, a key player in neonatal respiratory transition and genetic disorders of the surfactant system. Biochem Soc Trans. 2015;43(5):913–9. doi:10.1042/BST20150100.

    Article  PubMed  CAS  Google Scholar 

  • Peelman F, Labeur C, Vanloo B, Roosbeek S, Devaud C, Duverger N, et al. Characterization of the ABCA transporter subfamily: identification of prokaryotic and eukaryotic members, phylogeny and topology. J Mol Biol. 2003;325(2):259–74.

    Article  PubMed  CAS  Google Scholar 

  • Pickard BS, Van Den Bossche MJ, Malloy MP, Johnstone M, Lenaerts AS, Nordin A, et al. Multiplex amplicon quantification screening the ABCA13 gene for copy number variation in schizophrenia and bipolar disorder. Psychiatr Genet. 2012;22(5):269–70. doi:10.1097/YPG.0b013e32835185b3.

    Article  PubMed  Google Scholar 

  • Pollock NL, Callaghan R. The lipid translocase, ABCA4: seeing is believing. FEBS J. 2011;278(18):3204–14. doi:10.1111/j.1742-4658.2011.08169.x.

    Article  PubMed  CAS  Google Scholar 

  • Prades C, Arnould I, Annilo T, Shulenin S, Chen ZQ, Orosco L, et al. The human ATP binding cassette gene ABCA13, located on chromosome 7p12.3, encodes a 5058 amino acid protein with an extracellular domain encoded in part by a 4.8-kb conserved exon. Cytogenet Genome Res. 2002;98(2–3):160–8. doi:10.1159/000069852.

    Article  PubMed  CAS  Google Scholar 

  • Rahgozar S, Moafi A, Abedi M, Entezar EGM, Moshtaghian J, Ghaedi K, et al. mRNA expression profile of multidrug-resistant genes in acute lymphoblastic leukemia of children, a prognostic value for ABCA3 and ABCA2. Cancer Biol Ther. 2014;15(1):35–41. doi:10.4161/cbt.26603.

    Article  PubMed  CAS  Google Scholar 

  • Rickels MR, Goeser ES, Fuller C, Lord C, Bowler AM, Doliba NM, et al. Loss-of-function mutations in ABCA1 and enhanced beta-cell secretory capacity in young adults. Diabetes. 2015;64(1):193–9. doi:10.2337/db14-0436.

    Article  PubMed  CAS  Google Scholar 

  • Saini V, Hose CD, Monks A, Nagashima K, Han B, Newton DL, et al. Identification of CBX3 and ABCA5 as putative biomarkers for tumor stem cells in osteosarcoma. PLoS One. 2012;7(8):e41401. doi:10.1371/journal.pone.0041401.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Schulz V, Hendig D, Henjakovic M, Szliska C, Kleesiek K, Gotting C. Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE). Hum Mutat. 2006;27(8):831. doi:10.1002/humu.9444.

    Article  PubMed  Google Scholar 

  • Shi H, Belbin O, Medway C, Brown K, Kalsheker N, Carrasquillo M, et al. Genetic variants influencing human aging from late-onset Alzheimer’s disease (LOAD) genome-wide association studies (GWAS). Neurobiol Aging. 2012;33(8):1849.5–18. doi:10.1016/j.neurobiolaging.2012.02.014.

    Article  CAS  Google Scholar 

  • Steinberg S, Stefansson H, Jonsson T, Johannsdottir H, Ingason A, Helgason H, et al. Loss-of-function variants in ABCA7 confer risk of Alzheimer’s disease. Nat Genet. 2015;47(5):445–7. doi:10.1038/ng.3246.

    Article  PubMed  CAS  Google Scholar 

  • Stenirri S, Battistella S, Fermo I, Manitto MP, Martina E, Brancato R, et al. De novo deletion removes a conserved motif in the C-terminus of ABCA4 and results in cone-rod dystrophy. Clin Chem Lab Med. 2006;44(5):533–7. doi:10.1515/CCLM.2006.116.

    Article  PubMed  CAS  Google Scholar 

  • Takahashi K, Kimura Y, Nagata K, Yamamoto A, Matsuo M, Ueda K. ABC proteins: key molecules for lipid homeostasis. Med Mol Morphol. 2005;38(1):2–12. doi:10.1007/s00795-004-0278-8.

    Article  PubMed  CAS  Google Scholar 

  • Tan L, Yu JT, Zhang W, Wu ZC, Zhang Q, Liu QY, et al. Association of GWAS-linked loci with late-onset Alzheimer’s disease in a northern Han Chinese population. Alzheimers Dement. 2013;9(5):546–53. doi:10.1016/j.jalz.2012.08.007.

    Article  PubMed  Google Scholar 

  • Tan WJ, Cima I, Choudhury Y, Wei X, Lim JC, Thike AA, et al. A five-gene reverse transcription-PCR assay for pre-operative classification of breast fibroepithelial lesions. Breast Cancer Res. 2016;18(1):31. doi:10.1186/s13058-016-0692-6.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Tanaka AR, Abe-Dohmae S, Ohnishi T, Aoki R, Morinaga G, Okuhira K, et al. Effects of mutations of ABCA1 in the first extracellular domain on subcellular trafficking and ATP binding/hydrolysis. J Biol Chem. 2003;278(10):8815–9. doi:10.1074/jbc.M206885200.

    Article  PubMed  CAS  Google Scholar 

  • Tanaka N, Abe-Dohmae S, Iwamoto N, Yokoyama S, et al. Roles of ATP-binding cassette transporter A7 in cholesterol homeostasis and host defense system. J Atheroscler Thromb. 2011;18:274–81. doi:10.5551/jat.6726

    Article  PubMed  CAS  Google Scholar 

  • Theodoulou FL, Kerr ID. ABC transporter research: going strong 40 years on. Biochem Soc Trans. 2015;43(5):1033–40. doi:10.1042/BST20150139.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Tsybovsky Y, Molday RS, Palczewski K. The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease. Adv Exp Med Biol. 2010;703:105–25. doi:10.1007/978-1-4419-5635-4_8.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Turcu S, Ashton E, Jenkins L, Gupta A, Mok Q. Genetic testing in children with surfactant dysfunction. Arch Dis Child. 2013;98(7):490–5. doi:10.1136/archdischild-2012-303166.

    Article  PubMed  Google Scholar 

  • Van den Bossche T, Sleegers K, Cuyvers E, Engelborghs S, Sieben A, De Roeck A, et al. Phenotypic characteristics of Alzheimer patients carrying an ABCA7 mutation. Neurology. 2016;86(23):2126–33. doi:10.1212/WNL.0000000000002628.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • van der Deen M, de Vries EG, Timens W, Scheper RJ, Timmer-Bosscha H, Postma DS. ATP-binding cassette (ABC) transporters in normal and pathological lung. Respir Res. 2005;6:59. doi:10.1186/1465-9921-6-59.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • van Leeuwen EM, Karssen LC, Deelen J, Isaacs A, Medina-Gomez C, Mbarek H, et al. Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels. Nat Commun. 2015;6:6065. doi:10.1038/ncomms7065.

    Article  PubMed  CAS  Google Scholar 

  • Vasiliou V, Vasiliou K, Nebert DW. Human ATP-binding cassette (ABC) transporter family. Hum Genomics. 2009;3(3):281–90.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Wakino S, Itoh H. Anti-atherosclerotic effects by PPARgamma and its ligands through the activation of reverse cholesterol transport system. Nihon Rinsho. 2010;68(2):217–23.

    PubMed  Google Scholar 

  • Wang N, Lan D, Gerbod-Giannone M, Linsel-Nitschke P, Jehle AW, Chen W, et al. ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I and mediates cellular phospholipid but not cholesterol efflux. J Biol Chem. 2003;278(44):42906–12. doi:10.1074/jbc.M307831200.

    Article  PubMed  CAS  Google Scholar 

  • Wenzel JJ, Piehler A, Kaminski WE. ABC A-subclass proteins: gatekeepers of cellular phospho- and sphingolipid transport. Front Biosci. 2007;12:3177–93.

    Article  PubMed  CAS  Google Scholar 

  • Wert SE, Whitsett JA, Nogee LM. Genetic disorders of surfactant dysfunction. Pediatr Dev Pathol. 2009;12(4):253–74. doi:10.2350/09-01-0586.1.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Wong JH, Halliday GM, Kim WS. Exploring myelin dysfunction in multiple system atrophy. Exp Neurobiol. 2014;23(4):337–44. doi:10.5607/en.2014.23.4.337.

    Article  PubMed  PubMed Central  Google Scholar 

  • Xie N, Chen DH, Lin YN, Wu SZ, Gu YY, Zeng QS, et al. Pulmonary surfactant protein adenosine triphosphate-binding-cassette-A3 gene composite mutations in infant congenital interstitial lung disease: report of a case and review of literature. Zhonghua Er Ke Za Zhi. 2016a;54(10):761–6. doi:10.3760/cma.j.issn.0578-1310.2016.10.010.

    Article  PubMed  CAS  Google Scholar 

  • Xie H, Xie Y, Peng R, Li L, Zhu Y, Guo J. Harlequin ichthyosis: a novel compound mutation of ABCA12 with prenatal diagnosis. Clin Exp Dermatol. 2016b;41(6):636–9. doi:10.1111/ced.12861.

    Article  PubMed  CAS  Google Scholar 

  • Yassine HN, Feng Q, Chiang J, Petrosspour LM, Fonteh AN, Chui HC, Harrington MG. ABCA1-mediated cholesterol efflux capacity to cerebrospinal fluid is reduced in patients with mild cognitive impairment and Alzheimer’s disease. J Am Heart Assoc. 2016;5(2). doi:10.1161/JAHA.115.002886.

    Google Scholar 

  • Yu Y, Reynolds R, Fagerness J, Rosner B, Daly MJ, Seddon JM. Association of variants in the LIPC and ABCA1 genes with intermediate and large drusen and advanced age-related macular degeneration. Invest Ophthalmol Vis Sci. 2011;52(7):4663–70. doi:10.1167/iovs.10-7070.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  • Yu L, Chibnik LB, Srivastava GP, Pochet N, Yang J, Xu J, et al. Association of Brain DNA methylation in SORL1, ABCA7, HLA-DRB5, SLC24A4, and BIN1 with pathological diagnosis of Alzheimer disease. JAMA Neurol. 2015;72(1):15–24. doi:10.1001/jamaneurol.2014.3049.

    Article  PubMed  PubMed Central  Google Scholar 

  • Zhang L, Ferreyros M, Feng W, Hupe M, Crumrine DA, Chen J, et al. Defects in stratum corneum desquamation are the predominant effect of impaired ABCA12 function in a novel mouse model of harlequin ichthyosis. PLoS One. 2016;11(8):e0161465. doi:10.1371/journal.pone.0161465.

    Article  PubMed  PubMed Central  Google Scholar 

  • Zhao QF, Yu JT, Tan MS, Tan L. ABCA7 in Alzheimer’s disease. Mol Neurobiol. 2015;51(3):1008–16. doi:10.1007/s12035-014-8759-9.

    Article  PubMed  CAS  Google Scholar 

  • Zhong M, Molday LL, Molday RS. Role of the C terminus of the photoreceptor ABCA4 transporter in protein folding, function, and retinal degenerative diseases. J Biol Chem. 2009;284(6):3640–9. doi:10.1074/jbc.M806580200.

    Article  PubMed  CAS  Google Scholar 

Download references

Summary

The ABCA subfamily form an intriguing group of transporters whose function relates to lipid homeostasis. Although in several instances, such as with the ABCA6-like subgroup, the exact cellular function and mechanism of action remain unknown, their important physiological role is underscored by the often severe diseases that result from mutations in their genes. Prospects for future research relate back to the degree in which each transporter is understood. For relatively well-characterized transporters such as ABCA1 and ABCA4, a significant amount is known about the prospective ligand and a well-established link between a given monogenic disorder and mutations in the transporter encoding gene exists. Genetic testing for ABCA1, ABCA4, ABCA3,ABCA7, and ABCA12 disease associated variants is available in laboratories in the United States and abroad. For these transporters current and future research aimed at understanding the genotype phenotype (biochemical as well as clinical) correlation is important, so that more accurate prognoses and specific therapies may be implemented. Ultimately, the development of transport assays which can analyze the actual transport event itself, for both mutant and wild type proteins, will need to be developed in order to determine the precise effect of a given mutation on transporter function. In the case of less well understood transporters, such as the ABCA6-like subgroup, fundamental research is required to determine the identity of the transport ligand and how this relates to human health and disease. Finally, defining the role of protein-protein interactions in ABCA proteins is necessary in order to determine the synergistic relationships between the other members of the ABCA and/or ABC protein family as well as to define a given ABCA proteome. Perhaps, the recent identification of ABCA transporters in plants may provide us with additional model systems. Undoubtedly, the roadmap of ABCA disease-associated variants provides scientists and clinicians with a wealth of clues to uncover the secrets of this important class of ABC transporters.

Author information

Authors and Affiliations

  1. Department of Medical Laboratory Sciences, College of Health Sciences, University of Delaware, Newark, DE, 19716, USA

    Esther E. Biswas-Fiss, Albtool Alturkestani, Jazzlyn Jones & Joscelyn Korth

  2. Department of Molecular Biology, Rowan University School of Osteopathic Medicine, 08084, Stratford, NJ, USA

    Esther E. Biswas-Fiss

  3. Department of Bioscience Technologies, Program in Biotechnology, JSHP, Thomas Jefferson University, Philadelphia, PA, 19107, USA

    Stephanie Affet & Malissa Ha

  4. Department of Molecular Biology, Rowan University, Stratford, NJ, USA

    Subhasis Biswas

Authors
  1. Esther E. Biswas-Fiss
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Albtool Alturkestani
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Jazzlyn Jones
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Joscelyn Korth
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Stephanie Affet
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Malissa Ha
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Subhasis Biswas
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Esther E. Biswas-Fiss .

Editor information

Editors and Affiliations

  1. Department of Molecular Science and Technology, Ajou University, Suwon, Korea

    Sangdun Choi

Rights and permissions

Reprints and permissions

Copyright information

© 2018 Springer International Publishing AG

About this entry

Check for updates. Verify currency and authenticity via CrossMark

Cite this entry

Biswas-Fiss, E.E. et al. (2018). ABCA Transporters. In: Choi, S. (eds) Encyclopedia of Signaling Molecules. Springer, Cham. https://doi.org/10.1007/978-3-319-67199-4_166

Download citation

Publish with us

Policies and ethics

Search

Navigation