The ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes against steep concentration gradients at the cost of ATP hydrolysis. These substrates include amino acids, lipids, inorganic ions, peptides, saccharides, peptides for antigen presentation, metals, drugs, and proteins. The ABC transporters not only move a variety of substrates into and out of the cell, but are also involved in intracellular compartmental transport. Energy derived from the hydrolysis of ATP is used to transport the substrate across the membrane against a concentration gradient. Human genome contains 48 ABC genes; 16 of these have a known function and 14 are associated with a defined human disease (Dean et al. 2001, Borst and Elferink 2002, Rees et al. 2009).
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Reactome version: 66
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Reactome Author: Gopinathrao, G
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Park M, Ko SB, Choi JY, Muallem G, Thomas PJ, Pushkin A, Lee MS, Kim JY, Lee MG, Muallem S, Kurtz I.; ''The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3- cotransport isoform 3.''; PubMedEurope PMCScholia
Lukacs GL, Mohamed A, Kartner N, Chang XB, Riordan JR, Grinstein S.; ''Conformational maturation of CFTR but not its mutant counterpart (delta F508) occurs in the endoplasmic reticulum and requires ATP.''; PubMedEurope PMCScholia
Hogue DL, Liu L, Ling V.; ''Identification and characterization of a mammalian mitochondrial ATP-binding cassette membrane protein.''; PubMedEurope PMCScholia
Ward CL, Omura S, Kopito RR.; ''Degradation of CFTR by the ubiquitin-proteasome pathway.''; PubMedEurope PMCScholia
DeStefano GM, Kurban M, Anyane-Yeboa K, Dall'Armi C, Di Paolo G, Feenstra H, Silverberg N, Rohena L, López-Cepeda LD, Jobanputra V, Fantauzzo KA, Kiuru M, Tadin-Strapps M, Sobrino A, Vitebsky A, Warburton D, Levy B, Salas-Alanis JC, Christiano AM.; ''Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.''; PubMedEurope PMCScholia
Ramsey BW, Davies J, McElvaney NG, Tullis E, Bell SC, DÅ™evÃnek P, Griese M, McKone EF, Wainwright CE, Konstan MW, Moss R, Ratjen F, Sermet-Gaudelus I, Rowe SM, Dong Q, Rodriguez S, Yen K, Ordoñez C, Elborn JS, VX08-770-102 Study Group.; ''A CFTR potentiator in patients with cystic fibrosis and the G551D mutation.''; PubMedEurope PMCScholia
Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL.; ''Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.''; PubMedEurope PMCScholia
Soleimani M, Burnham CE.; ''Na+:HCO(3-) cotransporters (NBC): cloning and characterization.''; PubMedEurope PMCScholia
Frank NY, Margaryan A, Huang Y, Schatton T, Waaga-Gasser AM, Gasser M, Sayegh MH, Sadee W, Frank MH.; ''ABCB5-mediated doxorubicin transport and chemoresistance in human malignant melanoma.''; PubMedEurope PMCScholia
Wei SJ, Williams JG, Dang H, Darden TA, Betz BL, Humble MM, Chang FM, Trempus CS, Johnson K, Cannon RE, Tennant RW.; ''Identification of a specific motif of the DSS1 protein required for proteasome interaction and p53 protein degradation.''; PubMedEurope PMCScholia
Krishnamurthy PC, Du G, Fukuda Y, Sun D, Sampath J, Mercer KE, Wang J, Sosa-Pineda B, Murti KG, Schuetz JD.; ''Identification of a mammalian mitochondrial porphyrin transporter.''; PubMedEurope PMCScholia
Borst P, Elferink RO.; ''Mammalian ABC transporters in health and disease.''; PubMedEurope PMCScholia
Wang N, Lan D, Gerbod-Giannone M, Linsel-Nitschke P, Jehle AW, Chen W, Martinez LO, Tall AR.; ''ATP-binding cassette transporter A7 (ABCA7) binds apolipoprotein A-I and mediates cellular phospholipid but not cholesterol efflux.''; PubMedEurope PMCScholia
El Khouri E, Le Pavec G, Toledano MB, Delaunay-Moisan A.; ''RNF185 is a novel E3 ligase of endoplasmic reticulum-associated degradation (ERAD) that targets cystic fibrosis transmembrane conductance regulator (CFTR).''; PubMedEurope PMCScholia
Picciotto MR, Cohn JA, Bertuzzi G, Greengard P, Nairn AC.; ''Phosphorylation of the cystic fibrosis transmembrane conductance regulator.''; PubMedEurope PMCScholia
Kaminski WE, Piehler A, Püllmann K, Porsch-Ozcürümez M, Duong C, Bared GM, Büchler C, Schmitz G.; ''Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages.''; PubMedEurope PMCScholia
Shen DW, Fojo A, Chin JE, Roninson IB, Richert N, Pastan I, Gottesman MM.; ''Human multidrug-resistant cell lines: increased mdr1 expression can precede gene amplification.''; PubMedEurope PMCScholia
Morita SY, Terada T.; ''Molecular mechanisms for biliary phospholipid and drug efflux mediated by ABCB4 and bile salts.''; PubMedEurope PMCScholia
Ramjeesingh M, Ugwu F, Li C, Dhani S, Huan LJ, Wang Y, Bear CE.; ''Stable dimeric assembly of the second membrane-spanning domain of CFTR (cystic fibrosis transmembrane conductance regulator) reconstitutes a chloride-selective pore.''; PubMedEurope PMCScholia
Gloeckner CJ, Mayerhofer PU, Landgraf P, Muntau AC, Holzinger A, Gerber JK, Kammerer S, Adamski J, Roscher AA.; ''Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p.''; PubMedEurope PMCScholia
Kaminski WE, Orsó E, Diederich W, Klucken J, Drobnik W, Schmitz G.; ''Identification of a novel human sterol-sensitive ATP-binding cassette transporter (ABCA7).''; PubMedEurope PMCScholia
Oldfield S, Lowry C, Ruddick J, Lightman S.; ''ABCG4: a novel human white family ABC-transporter expressed in the brain and eye.''; PubMedEurope PMCScholia
Nasonkin I, Illing M, Koehler MR, Schmid M, Molday RS, Weber BH.; ''Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease.''; PubMedEurope PMCScholia
Sun H, Molday RS, Nathans J.; ''Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease.''; PubMedEurope PMCScholia
Aubourg P, Mosser J, Douar AM, Sarde CO, Lopez J, Mandel JL.; ''Adrenoleukodystrophy gene: unexpected homology to a protein involved in peroxisome biogenesis.''; PubMedEurope PMCScholia
Abe-Dohmae S, Ikeda Y, Matsuo M, Hayashi M, Okuhira K, Ueda K, Yokoyama S.; ''Human ABCA7 supports apolipoprotein-mediated release of cellular cholesterol and phospholipid to generate high density lipoprotein.''; PubMedEurope PMCScholia
Yamano G, Funahashi H, Kawanami O, Zhao LX, Ban N, Uchida Y, Morohoshi T, Ogawa J, Shioda S, Inagaki N.; ''ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells.''; PubMedEurope PMCScholia
Csere P, Lill R, Kispal G.; ''Identification of a human mitochondrial ABC transporter, the functional orthologue of yeast Atm1p.''; PubMedEurope PMCScholia
Dean M, Rzhetsky A, Allikmets R.; ''The human ATP-binding cassette (ABC) transporter superfamily.''; PubMedEurope PMCScholia
Petry F, Kotthaus A, Hirsch-Ernst KI.; ''Cloning of human and rat ABCA5/Abca5 and detection of a human splice variant.''; PubMedEurope PMCScholia
Sacksteder KA, Jones JM, South ST, Li X, Liu Y, Gould SJ.; ''PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis.''; PubMedEurope PMCScholia
Osborne L, Knight R, Santis G, Hodson M.; ''A mutation in the second nucleotide binding fold of the cystic fibrosis gene.''; PubMedEurope PMCScholia
Kamijo K, Osumi T, Hashimoto T.; ''[PMP70, the 70-kDa peroxisomal membrane protein: a member of the ATP-binding cassette transporters].''; PubMedEurope PMCScholia
Holzinger A, Kammerer S, Berger J, Roscher AA.; ''cDNA cloning and mRNA expression of the human adrenoleukodystrophy related protein (ALDRP), a peroxisomal ABC transporter.''; PubMedEurope PMCScholia
Paytubi S, Wang X, Lam YW, Izquierdo L, Hunter MJ, Jan E, Hundal HS, Proud CG.; ''ABC50 promotes translation initiation in mammalian cells.''; PubMedEurope PMCScholia
Biswas EE, Biswas SB.; ''The C-terminal nucleotide binding domain of the human retinal ABCR protein is an adenosine triphosphatase.''; PubMedEurope PMCScholia
Vembar SS, Brodsky JL.; ''One step at a time: endoplasmic reticulum-associated degradation.''; PubMedEurope PMCScholia
Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, Sawamura D, Shimizu H.; ''Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer.''; PubMedEurope PMCScholia
Babenko AP, Gonzalez G, Aguilar-Bryan L, Bryan J.; ''Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells.''; PubMedEurope PMCScholia
Fang Y, Morrell JC, Jones JM, Gould SJ.; ''PEX3 functions as a PEX19 docking factor in the import of class I peroxisomal membrane proteins.''; PubMedEurope PMCScholia
Chloupková M, Reaves SK, LeBard LM, Koeller DM.; ''The mitochondrial ABC transporter Atm1p functions as a homodimer.''; PubMedEurope PMCScholia
Morita SY, Kobayashi A, Takanezawa Y, Kioka N, Handa T, Arai H, Matsuo M, Ueda K.; ''Bile salt-dependent efflux of cellular phospholipids mediated by ATP binding cassette protein B4.''; PubMedEurope PMCScholia
Piehler A, Kaminski WE, Wenzel JJ, Langmann T, Schmitz G.; ''Molecular structure of a novel cholesterol-responsive A subclass ABC transporter, ABCA9.''; PubMedEurope PMCScholia
Kapoor H, Koolwal A, Singh A.; ''Ivacaftor: a novel mutation modulating drug.''; PubMedEurope PMCScholia
Klugbauer N, Hofmann F.; ''Primary structure of a novel ABC transporter with a chromosomal localization on the band encoding the multidrug resistance-associated protein.''; PubMedEurope PMCScholia
Voges D, Zwickl P, Baumeister W.; ''The 26S proteasome: a molecular machine designed for controlled proteolysis.''; PubMedEurope PMCScholia
Rees DC, Johnson E, Lewinson O.; ''ABC transporters: the power to change.''; PubMedEurope PMCScholia
Tsuruoka S, Ishibashi K, Yamamoto H, Wakaumi M, Suzuki M, Schwartz GJ, Imai M, Fujimura A.; ''Functional analysis of ABCA8, a new drug transporter.''; PubMedEurope PMCScholia
Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM.; ''Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).''; PubMedEurope PMCScholia
Paytubi S, Morrice NA, Boudeau J, Proud CG.; ''The N-terminal region of ABC50 interacts with eukaryotic initiation factor eIF2 and is a target for regulatory phosphorylation by CK2.''; PubMedEurope PMCScholia
Tammaro P, Ashcroft FM.; ''A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit.''; PubMedEurope PMCScholia
Engel T, Lorkowski S, Lueken A, Rust S, Schlüter B, Berger G, Cullen P, Assmann G.; ''The human ABCG4 gene is regulated by oxysterols and retinoids in monocyte-derived macrophages.''; PubMedEurope PMCScholia
Kaminski WE, Piehler A, Schmitz G.; ''Genomic organization of the human cholesterol-responsive ABC transporter ABCA7: tandem linkage with the minor histocompatibility antigen HA-1 gene.''; PubMedEurope PMCScholia
Jensen TJ, Loo MA, Pind S, Williams DB, Goldberg AL, Riordan JR.; ''Multiple proteolytic systems, including the proteasome, contribute to CFTR processing.''; PubMedEurope PMCScholia
Vaughan AM, Oram JF.; ''ABCG1 redistributes cell cholesterol to domains removable by high density lipoprotein but not by lipid-depleted apolipoproteins.''; PubMedEurope PMCScholia
Gelman MS, Kannegaard ES, Kopito RR.; ''A principal role for the proteasome in endoplasmic reticulum-associated degradation of misfolded intracellular cystic fibrosis transmembrane conductance regulator.''; PubMedEurope PMCScholia
Liu LX, Janvier K, Berteaux-Lecellier V, Cartier N, Benarous R, Aubourg P.; ''Homo- and heterodimerization of peroxisomal ATP-binding cassette half-transporters.''; PubMedEurope PMCScholia
Kamisako T, Leier I, Cui Y, König J, Buchholz U, Hummel-Eisenbeiss J, Keppler D.; ''Transport of monoglucuronosyl and bisglucuronosyl bilirubin by recombinant human and rat multidrug resistance protein 2.''; PubMedEurope PMCScholia
Zhang F, Zhang W, Liu L, Fisher CL, Hui D, Childs S, Dorovini-Zis K, Ling V.; ''Characterization of ABCB9, an ATP binding cassette protein associated with lysosomes.''; PubMedEurope PMCScholia
Graf SA, Haigh SE, Corson ED, Shirihai OS.; ''Targeting, import, and dimerization of a mammalian mitochondrial ATP binding cassette (ABC) transporter, ABCB10 (ABC-me).''; PubMedEurope PMCScholia
Berge KE, Tian H, Graf GA, Yu L, Grishin NV, Schultz J, Kwiterovich P, Shan B, Barnes R, Hobbs HH.; ''Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.''; PubMedEurope PMCScholia
Ousingsawat J, Kongsuphol P, Schreiber R, Kunzelmann K.; ''CFTR and TMEM16A are separate but functionally related Cl- channels.''; PubMedEurope PMCScholia
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.; ''Posttranscriptional regulation of human ABCA7 and its function for the apoA-I-dependent lipid release.''; PubMedEurope PMCScholia
Zhang F, Hogue DL, Liu L, Fisher CL, Hui D, Childs S, Ling V.; ''M-ABC2, a new human mitochondrial ATP-binding cassette membrane protein.''; PubMedEurope PMCScholia
Stefková J, Poledne R, Hubácek JA.; ''ATP-binding cassette (ABC) transporters in human metabolism and diseases.''; PubMedEurope PMCScholia
Mitsuhashi N, Miki T, Senbongi H, Yokoi N, Yano H, Miyazaki M, Nakajima N, Iwanaga T, Yokoyama Y, Shibata T, Seino S.; ''MTABC3, a novel mitochondrial ATP-binding cassette protein involved in iron homeostasis.''; PubMedEurope PMCScholia
Vulevic B, Chen Z, Boyd JT, Davis W, Walsh ES, Belinsky MG, Tew KD.; ''Cloning and characterization of human adenosine 5'-triphosphate-binding cassette, sub-family A, transporter 2 (ABCA2).''; PubMedEurope PMCScholia
Deeley RG, Westlake C, Cole SP.; ''Transmembrane transport of endo- and xenobiotics by mammalian ATP-binding cassette multidrug resistance proteins.''; PubMedEurope PMCScholia
Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M.; ''ABCA3 gene mutations in newborns with fatal surfactant deficiency.''; PubMedEurope PMCScholia
Accurso FJ, Rowe SM, Clancy JP, Boyle MP, Dunitz JM, Durie PR, Sagel SD, Hornick DB, Konstan MW, Donaldson SH, Moss RB, Pilewski JM, Rubenstein RC, Uluer AZ, Aitken ML, Freedman SD, Rose LM, Mayer-Hamblett N, Dong Q, Zha J, Stone AJ, Olson ER, Ordoñez CL, Campbell PW, Ashlock MA, Ramsey BW.; ''Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation.''; PubMedEurope PMCScholia
Ward CL, Kopito RR.; ''Intracellular turnover of cystic fibrosis transmembrane conductance regulator. Inefficient processing and rapid degradation of wild-type and mutant proteins.''; PubMedEurope PMCScholia
Kaminski WE, Wenzel JJ, Piehler A, Langmann T, Schmitz G.; ''ABCA6, a novel a subclass ABC transporter.''; PubMedEurope PMCScholia
Roerig P, Mayerhofer P, Holzinger A, Gärtner J.; ''Characterization and functional analysis of the nucleotide binding fold in human peroxisomal ATP binding cassette transporters.''; PubMedEurope PMCScholia
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