Cystic fibrosis transmembrane conductance regulator

Definition:

Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis. Mediates the transport of chloride ions across the cell membrane. Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3)(-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Plays an important role in airway fluid homeostasis. Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens. Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex. Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G. Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7. Can inhibit the chloride channel activity of ANO1. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.

References:

[1]. Baptiste Rode, et al. The testis anion transporter TAT1 (SLC26A8) physically and functionally interacts with the cystic fibrosis transmembrane conductance regulator channel: a potential role during sperm capacitation. Hum Mol Genet. 2012 Mar 15;21(6):1287-98. [Content Brief]

[2]. C Lu, et al. CFTR stabilizes ENaC at the plasma membrane. J Cyst Fibros. 2007 Nov 30;6(6):419-22. [Content Brief]

[3]. Lin Tang, et al. Mechanism of direct bicarbonate transport by the CFTR anion channel. J Cyst Fibros. 2009 Mar;8(2):115-21. [Content Brief]

[4]. A Vankeerberghen, et al. Characterization of mutations located in exon 18 of the CFTR gene. FEBS Lett. 1998 Oct 16;437(1-2):1-4. [Content Brief]

[5]. C Li, et al. ATPase activity of the cystic fibrosis transmembrane conductance regulator. J Biol Chem. 1996 Nov 8;271(45):28463-8. [Content Brief]

[6]. Jiraporn Ousingsawat, et al. CFTR and TMEM16A are separate but functionally related Cl- channels. Cell Physiol Biochem. 2011;28(4):715-24. [Content Brief]

[7]. Viral S Shah, et al. Airway acidification initiates host defense abnormalities in cystic fibrosis mice. Science. 2016 Jan 29;351(6272):503-7. [Content Brief]

[8]. Sabine Blouquit, et al. Ion and fluid transport properties of small airways in cystic fibrosis. Am J Respir Crit Care Med. 2006 Aug 1;174(3):299-305. [Content Brief]

[9]. Stan Pasyk, et al. The major cystic fibrosis causing mutation exhibits defective propensity for phosphorylation. Proteomics. 2015 Jan;15(2-3):447-61. [Content Brief]

[10]. Chu-Yan Li, et al. CFTR is essential for sperm fertilizing capacity and is correlated with sperm quality in humans. Hum Reprod. 2010 Feb;25(2):317-27. [Content Brief]

[11]. Martin Mense, et al. In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer. EMBO J. 2006 Oct 18;25(20):4728-39. [Content Brief]

[12]. V Chappe, et al. Phosphorylation of protein kinase C sites in NBD1 and the R domain control CFTR channel activation by PKA. J Physiol. 2003 Apr 1;548(Pt 1):39-52. [Content Brief]

[13]. Robert Rauh, et al. δβγ-ENaC is inhibited by CFTR but stimulated by cAMP in Xenopus laevis oocytes. Am J Physiol Lung Cell Mol Physiol. 2017 Feb 1;312(2):L277-L287. [Content Brief]

[14]. Raymond D Coakley, et al. Abnormal surface liquid pH regulation by cultured cystic fibrosis bronchial epithelium. Proc Natl Acad Sci U S A. 2003 Dec 23;100(26):16083-8. [Content Brief]

[15]. Jie Cheng, et al. A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression. J Biol Chem. 2002 Feb 1;277(5):3520-9. [Content Brief]

[16]. Kenneth R Hallows, et al. Physiological modulation of CFTR activity by AMP-activated protein kinase in polarized T84 cells. Am J Physiol Cell Physiol. 2003 May;284(5):C1297-308. [Content Brief]

[17]. Ying-Chun Yu, et al. On the mechanism of gating defects caused by the R117H mutation in cystic fibrosis transmembrane conductance regulator. J Physiol. 2016 Jun 15;594(12):3227-44. [Content Brief]

[18]. Annette Ehrhardt, et al. Channel Gating Regulation by the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) First Cytosolic Loop. J Biol Chem. 2016 Jan 22;291(4):1854-1865. [Content Brief]

[19]. Nikolay Shcheynikov, et al. Dynamic control of cystic fibrosis transmembrane conductance regulator Cl(-)/HCO3(-) selectivity by external Cl(-). J Biol Chem. 2004 May 21;279(21):21857-65. [Content Brief]

[20]. Liqun Zhang, et al. CFTR delivery to 25% of surface epithelial cells restores normal rates of mucus transport to human cystic fibrosis airway epithelium. PLoS Biol. 2009 Jul;7(7):e1000155. [Content Brief]

[21]. Lis C Puga Molina, et al. Essential Role of CFTR in PKA-Dependent Phosphorylation, Alkalinization, and Hyperpolarization During Human Sperm Capacitation. J Cell Physiol. 2017 Jun;232(6):1404-1414. [Content Brief]

[22]. L S Ostedgaard, et al. A functional R domain from cystic fibrosis transmembrane conductance regulator is predominantly unstructured in solution. Proc Natl Acad Sci U S A. 2000 May 9;97(10):5657-62. [Content Brief]

[23]. M Ramjeesingh, et al. A monomer is the minimum functional unit required for channel and ATPase activity of the cystic fibrosis transmembrane conductance regulator. Biochemistry. 2001 Sep 4;40(35):10700-6. [Content Brief]

[24]. Mark R Silvis, et al. A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates. J Biol Chem. 2003 Mar 28;278(13):11554-60. [Content Brief]

[25]. R J Gregory, et al. Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2. Mol Cell Biol. 1991 Aug;11(8):3886-93. [Content Brief]

[26]. Laurence Suaud, et al. Regulatory interactions of N1303K-CFTR and ENaC in Xenopus oocytes: evidence that chloride transport is not necessary for inhibition of ENaC. Am J Physiol Cell Physiol. 2007 Apr;292(4):C1553-61. [Content Brief]

[27]. Xin Meng, et al. Two Small Molecules Restore Stability to a Subpopulation of the Cystic Fibrosis Transmembrane Conductance Regulator with the Predominant Disease-causing Mutation. J Biol Chem. 2017 Mar 3;292(9):3706-3719. [Content Brief]

[28]. Jennifer M Bomberger, et al. The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells. J Biol Chem. 2009 Jul 10;284(28):18778-89. [Content Brief]

[29]. Meeyoung Park, et al. The cystic fibrosis transmembrane conductance regulator interacts with and regulates the activity of the HCO3- salvage transporter human Na+-HCO3- cotransport isoform 3. J Biol Chem. 2002 Dec 27;277(52):50503-9. [Content Brief]

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