Gene Review:
CFTR - cystic fibrosis transmembrane conductance...
Homo sapiens
Synonyms:
ABC35, ABCC7, ATP-binding cassette sub-family C member 7, CF, CFTR/MRP, ...
Ellison,
Peter M. Haggie,
Bachmann,
Karlson,
Banting,
Paliege,
Boyd,
Fekete,
Hasson,
Meluleni,
Weinreich,
Laki,
Proh??szka,
Pozsonyi,
Kunzelmann,
Dobra,
N??meth,
Clerici,
Dawson,
Hal??sz,
Mueschenborn,
Keim,
Colledge,
Endreffy,
Rajczy,
Swiatecka-Urban,
Coutermarsh,
Grout,
F??st,
Gyurkovits,
Aschenbrenner,
Harris,
Stein,
Barnaby,
Jentsch,
Stanton,
Pier,
Zdebik,
Ujhelyi,
Matthay,
Ratcliff,
Csisz??r,
Langford,
Evans,
Zhu,
Folkesson,
Zaidi,
Liu,
Voynow,
A.S. Verkman,
S??lyom,
Yang,
Bede,
Bolb??s,
Mall,
Rose,
Chris Carter,
Laki,
- Separation of drug transport and chloride channel functions of the human multidrug resistance P-glycoprotein. Gill, D.R., Hyde, S.C., Higgins, C.F., Valverde, M.A., Mintenig, G.M., Sepúlveda, F.V. Cell (1992)
- Salmonella typhi uses CFTR to enter intestinal epithelial cells. Pier, G.B., Grout, M., Zaidi, T., Meluleni, G., Mueschenborn, S.S., Banting, G., Ratcliff, R., Evans, M.J., Colledge, W.H. Nature (1998)
- Excessive inflammatory response of cystic fibrosis mice to bronchopulmonary infection with Pseudomonas aeruginosa. Heeckeren, A., Walenga, R., Konstan, M.W., Bonfield, T., Davis, P.B., Ferkol, T. J. Clin. Invest. (1997)
- The duct cell in cystic fibrosis. Harris, A. Ann. N. Y. Acad. Sci. (1999)
- Genetics of pancreatitis. Keim, V. Scandinavian journal of surgery : SJS : official organ for the Finnish Surgical Society and the Scandinavian Surgical Society. (2005)
- Reduced expression of the cystic fibrosis transmembrane conductance regulator gene in the hypothalamus of patients with Alzheimer's disease. Lahousse, S.A., Stopa, E.G., Mulberg, A.E., de la Monte, S.M. J. Alzheimers Dis. (2003)
- Physicians' perceived usefulness of and satisfaction with test reports for cystic fibrosis (DeltaF508) and factor V Leiden. Krousel-Wood, M., Andersson, H.C., Rice, J., Jackson, K.E., Rosner, E.R., Lubin, I.M. Genet. Med. (2003)
- The 8.1 ancestral MHC haplotype is associated with delayed onset of colonization in cystic fibrosis. Laki, J., Laki, I., N??meth, K., Ujhelyi, R., Bede, O., Endreffy, E., Bolb??s, K., Gyurkovits, K., Csisz??r, E., S??lyom, E., Dobra, G., Hal??sz, A., Pozsonyi, E., Rajczy, K., Proh??szka, Z., Fekete, G., F??st, G. Int. Immunol. (2006)
- Respiratory tract mucin genes and mucin glycoproteins in health and disease. Rose, M.C., Voynow, J.A. Physiol. Rev. (2006)
- Lung epithelial fluid transport and the resolution of pulmonary edema. Matthay, M.A., Folkesson, H.G., Clerici, C. Physiol. Rev. (2002)
- Electrolyte transport in the mammalian colon: mechanisms and implications for disease. Kunzelmann, K., Mall, M. Physiol. Rev. (2002)
- Molecular structure and physiological function of chloride channels. Jentsch, T.J., Stein, V., Weinreich, F., Zdebik, A.A. Physiol. Rev. (2002)
- Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis. Choi, J.Y., Muallem, D., Kiselyov, K., Lee, M.G., Thomas, P.J., Muallem, S. Nature (2001)
- Regulation of CFTR chloride channels by syntaxin and Munc18 isoforms. Naren, A.P., Nelson, D.J., Xie, W., Jovov, B., Pevsner, J., Bennett, M.K., Benos, D.J., Quick, M.W., Kirk, K.L. Nature (1997)
- Protein kinase C epsilon-dependent regulation of cystic fibrosis transmembrane regulator involves binding to a receptor for activated C kinase (RACK1) and RACK1 binding to Na+/H+ exchange regulatory factor. Liedtke, C.M., Yun, C.H., Kyle, N., Wang, D. J. Biol. Chem. (2002)
- Introduction of the most common cystic fibrosis mutation (Delta F508) into human P-glycoprotein disrupts packing of the transmembrane segments. Loo, T.W., Bartlett, M.C., Clarke, D.M. J. Biol. Chem. (2002)
- MUC4 expression is regulated by cystic fibrosis transmembrane conductance regulator in pancreatic adenocarcinoma cells via transcriptional and post-translational mechanisms. Singh, A.P., Chauhan, S.C., Andrianifahanana, M., Moniaux, N., Meza, J.L., Copin, M.C., van Seuningen, I., Hollingsworth, M.A., Aubert, J.P., Batra, S.K. Oncogene (2007)
- Accessory protein facilitated CFTR-CFTR interaction, a molecular mechanism to potentiate the chloride channel activity. Wang, S., Yue, H., Derin, R.B., Guggino, W.B., Li, M. Cell (2000)
- An intrinsic adenylate kinase activity regulates gating of the ABC transporter CFTR. Randak, C., Welsh, M.J. Cell (2003)
- A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Cutting, G.R., Kasch, L.M., Rosenstein, B.J., Zielenski, J., Tsui, L.C., Antonarakis, S.E., Kazazian, H.H. Nature (1990)
- CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP. Schwiebert, E.M., Egan, M.E., Hwang, T.H., Fulmer, S.B., Allen, S.S., Cutting, G.R., Guggino, W.B. Cell (1995)
- Calcium-pump inhibitors induce functional surface expression of Delta F508-CFTR protein in cystic fibrosis epithelial cells. Egan, M.E., Glöckner-Pagel, J., Ambrose, C., Cahill, P.A., Pappoe, L., Balamuth, N., Cho, E., Canny, S., Wagner, C.A., Geibel, J., Caplan, M.J. Nat. Med. (2002)
- CFTR and differentiation markers expression in non-CF and delta F 508 homozygous CF nasal epithelium. Dupuit, F., Kälin, N., Brézillon, S., Hinnrasky, J., Tümmler, B., Puchelle, E. J. Clin. Invest. (1995)
- CFTR is a conductance regulator as well as a chloride channel. Schwiebert, E.M., Benos, D.J., Egan, M.E., Stutts, M.J., Guggino, W.B. Physiol. Rev. (1999)
- Protein kinase CK2, cystic fibrosis transmembrane conductance regulator, and the deltaF508 mutation: F508 deletion disrupts a kinase-binding site. Treharne, K.J., Crawford, R.M., Xu, Z., Chen, J.H., Best, O.G., Schulte, E.A., Gruenert, D.C., Wilson, S.M., Sheppard, D.N., Kunzelmann, K., Mehta, A. J. Biol. Chem. (2007)
- Spatiotemporal coupling of cAMP transporter to CFTR chloride channel function in the gut epithelia. Li, C., Krishnamurthy, P.C., Penmatsa, H., Marrs, K.L., Wang, X.Q., Zaccolo, M., Jalink, K., Li, M., Nelson, D.J., Schuetz, J.D., Naren, A.P. Cell (2007)
- Cystic fibrosis transmembrane conductance regulator trafficking is mediated by the COPI coat in epithelial cells. Rennolds, J., Tower, C., Musgrove, L., Fan, L., Maloney, K., Clancy, J.P., Kirk, K.L., Sztul, E., Cormet-Boyaka, E. J. Biol. Chem. (2008)
- Monomeric CFTR in plasma membranes in live cells revealed by single molecule fluorescence imaging. Haggie, P.M., Verkman, A.S. J. Biol. Chem. (2008)
- Mechanistic insight into control of CFTR by AMPK. Kongsuphol, P., Cassidy, D., Hieke, B., Treharne, K.J., Schreiber, R., Mehta, A., Kunzelmann, K. J. Biol. Chem. (2009)
- The Hdj-2/Hsc70 chaperone pair facilitates early steps in CFTR biogenesis. Meacham, G.C., Lu, Z., King, S., Sorscher, E., Tousson, A., Cyr, D.M. EMBO J. (1999)
- A C-terminal motif found in the beta2-adrenergic receptor, P2Y1 receptor and cystic fibrosis transmembrane conductance regulator determines binding to the Na+/H+ exchanger regulatory factor family of PDZ proteins. Hall, R.A., Ostedgaard, L.S., Premont, R.T., Blitzer, J.T., Rahman, N., Welsh, M.J., Lefkowitz, R.J. Proc. Natl. Acad. Sci. U.S.A. (1998)
- CFTR chloride channels are regulated by a SNAP-23/syntaxin 1A complex. Cormet-Boyaka, E., Di, A., Chang, S.Y., Naren, A.P., Tousson, A., Nelson, D.J., Kirk, K.L. Proc. Natl. Acad. Sci. U.S.A. (2002)
- Processing mutations located throughout the human multidrug resistance P-glycoprotein disrupt interactions between the nucleotide binding domains. Loo, T.W., Bartlett, M.C., Clarke, D.M. J. Biol. Chem. (2004)
- A naturally occurring sequence variation that creates a YY1 element is associated with increased cystic fibrosis transmembrane conductance regulator gene expression. Romey, M.C., Pallares-Ruiz, N., Mange, A., Mettling, C., Peytavi, R., Demaille, J., Claustres, M. J. Biol. Chem. (2000)
- Myosin Vb is required for trafficking of the cystic fibrosis transmembrane conductance regulator in Rab11a-specific apical recycling endosomes in polarized human airway epithelial cells. Swiatecka-Urban, A., Talebian, L., Kanno, E., Moreau-Marquis, S., Coutermarsh, B., Hansen, K., Karlson, K.H., Barnaby, R., Cheney, R.E., Langford, G.M., Fukuda, M., Stanton, B.A. J. Biol. Chem. (2007)
- Targeting CAL as a negative regulator of DeltaF508-CFTR cell-surface expression: an RNA interference and structure-based mutagenetic approach. Wolde, M., Fellows, A., Cheng, J., Kivenson, A., Coutermarsh, B., Talebian, L., Karlson, K., Piserchio, A., Mierke, D.F., Stanton, B.A., Guggino, W.B., Madden, D.R. J. Biol. Chem. (2007)
- The role of the C terminus and Na+/H+ exchanger regulatory factor in the functional expression of cystic fibrosis transmembrane conductance regulator in nonpolarized cells and epithelia. Benharouga, M., Sharma, M., So, J., Haardt, M., Drzymala, L., Popov, M., Schwapach, B., Grinstein, S., Du, K., Lukacs, G.L. J. Biol. Chem. (2003)
- Proportion of the GSTM1 0/0 genotype in some Slavic populations and its correlation with cystic fibrosis and some multifactorial diseases. Baranov, V.S., Ivaschenko, T., Bakay, B., Aseev, M., Belotserkovskaya, R., Baranova, H., Malet, P., Perriot, J., Mouraire, P., Baskakov, V.N., Savitskyi, G.A., Gorbushin, S., Deyneka, S.I., Michnin, E., Barchuck, A., Vakharlovsky, V., Pavlov, G., Shilko, V.I., Guembitzkaya, T., Kovaleva, L. Hum. Genet. (1996)
- WNK1 and WNK4 modulate CFTR activity. Yang, C.L., Liu, X., Paliege, A., Zhu, X., Bachmann, S., Dawson, D.C., Ellison, D.H. Biochem. Biophys. Res. Commun. (2007)
- The polyglutamine neurodegenerative protein ataxin 3 regulates aggresome formation. Burnett, B.G., Pittman, R.N. Proc. Natl. Acad. Sci. U.S.A. (2005)
- The chloride channel ClC-4 co-localizes with cystic fibrosis transmembrane conductance regulator and may mediate chloride flux across the apical membrane of intestinal epithelia. Mohammad-Panah, R., Ackerley, C., Rommens, J., Choudhury, M., Wang, Y., Bear, C.E. J. Biol. Chem. (2002)
- Plasma membrane CFTR regulates RANTES expression via its C-terminal PDZ-interacting motif. Estell, K., Braunstein, G., Tucker, T., Varga, K., Collawn, J.F., Schwiebert, L.M. Mol. Cell. Biol. (2003)
- Stimulation of beta 2-adrenergic receptor increases cystic fibrosis transmembrane conductance regulator expression in human airway epithelial cells through a cAMP/protein kinase A-independent pathway. Taouil, K., Hinnrasky, J., Hologne, C., Corlieu, P., Klossek, J.M., Puchelle, E. J. Biol. Chem. (2003)
- Ezrin controls the macromolecular complexes formed between an adapter protein Na+/H+ exchanger regulatory factor and the cystic fibrosis transmembrane conductance regulator. Li, J., Dai, Z., Jana, D., Callaway, D.J., Bu, Z. J. Biol. Chem. (2005)
- Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator. Swiatecka-Urban, A., Boyd, C., Coutermarsh, B., Karlson, K.H., Barnaby, R., Aschenbrenner, L., Langford, G.M., Hasson, T., Stanton, B.A. J. Biol. Chem. (2004)
- Cysteine string protein promotes proteasomal degradation of the cystic fibrosis transmembrane conductance regulator (CFTR) by increasing its interaction with the C terminus of Hsp70-interacting protein and promoting CFTR ubiquitylation. Schmidt, B.Z., Watts, R.J., Aridor, M., Frizzell, R.A. J. Biol. Chem. (2009)
- Syntaxin 1A is expressed in airway epithelial cells, where it modulates CFTR Cl(-) currents. Naren, A.P., Di, A., Cormet-Boyaka, E., Boyaka, P.N., McGhee, J.R., Zhou, W., Akagawa, K., Fujiwara, T., Thome, U., Engelhardt, J.F., Nelson, D.J., Kirk, K.L. J. Clin. Invest. (2000)
- Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations. Noone, P.G., Zhou, Z., Silverman, L.M., Jowell, P.S., Knowles, M.R., Cohn, J.A. Gastroenterology (2001)
- Yes-associated protein 65 localizes p62(c-Yes) to the apical compartment of airway epithelia by association with EBP50. Mohler, P.J., Kreda, S.M., Boucher, R.C., Sudol, M., Stutts, M.J., Milgram, S.L. J. Cell Biol. (1999)
- Vasoactive intestinal peptide, forskolin, and genistein increase apical CFTR trafficking in the rectal gland of the spiny dogfish, Squalus acanthias. Acute regulation of CFTR trafficking in an intact epithelium. Lehrich, R.W., Aller, S.G., Webster, P., Marino, C.R., Forrest, J.N. J. Clin. Invest. (1998)
- The DeltaF508 mutation results in loss of CFTR function and mature protein in native human colon. Mall, M., Kreda, S.M., Mengos, A., Jensen, T.J., Hirtz, S., Seydewitz, H.H., Yankaskas, J., Kunzelmann, K., Riordan, J.R., Boucher, R.C. Gastroenterology (2004)
- Development of an epithelium-specific expression cassette with human DNA regulatory elements for transgene expression in lung airways. Chow, Y.H., O'Brodovich, H., Plumb, J., Wen, Y., Sohn, K.J., Lu, Z., Zhang, F., Lukacs, G.L., Tanswell, A.K., Hui, C.C., Buchwald, M., Hu, J. Proc. Natl. Acad. Sci. U.S.A. (1997)