Cystic Fibrosis Transmembrane Conductance Regulator (CFTR)

ABC35; ABCC7; CF; CFTR/MRP; MRP7; TNR-CFTR; ATP-Binding Cassette Subfamily C,Member 7; Channel conductance-controlling ATPase; cAMP-dependent chloride channel

SPN	U423
HGNC	1884
MGI	88388
PubMed	12794695
RGD	2332
UniProt	P13569
Wiki	CFTR

Cystic fibrosis transmembrane conductance regulator (CFTR) is an ABC transporter-class protein and ion channel that transports chloride ions across epithelial cell membranes. Mutations of the CFTR gene affect functioning of the chloride ion channels in these cell membranes, leading to cystic fibrosis and congenital absence of the vas deferens.

The gene that encodes for CFTR is found on the human chromosome 7, on the long arm at position q31.2. It contains about 170,000 base pairs. The encoded CFTR is a glycoprotein with 1480 amino acids. The protein consists of five domains. There are two transmembrane domains, each with six spans of alpha helices. These are each connected to a nucleotide binding domain (NBD) in the cytoplasm.

Reference

"Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA."
Science 245:1066-1073(1989) [PubMed] [Europe PMC] [Abstract]

"Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene."
Genomics 10:214-228(1991) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of human chromosome 7."
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]

"Human chromosome 7: DNA sequence and biology."
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]

"Phosphorylation of the cystic fibrosis transmembrane conductance regulator."
J. Biol. Chem. 267:12742-12752(1992) [PubMed] [Europe PMC] [Abstract]

"Mapping of cystic fibrosis transmembrane conductance regulator membrane topology by glycosylation site insertion."
J. Biol. Chem. 269:18572-18575(1994) [PubMed] [Europe PMC] [Abstract]

"Evidence for phosphorylation of serine 753 in CFTR using a novel metal-ion affinity resin and matrix-assisted laser desorption mass spectrometry."
Protein Sci. 6:2436-2445(1997) [PubMed] [Europe PMC] [Abstract]

"Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element."
J. Biol. Chem. 275:21041-21047(2000) [PubMed] [Europe PMC] [Abstract]

"A Golgi-associated PDZ domain protein modulates cystic fibrosis transmembrane regulator plasma membrane expression."
J. Biol. Chem. 277:3520-3529(2002) [PubMed] [Europe PMC] [Abstract]

"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. 277:50503-50509(2002) [PubMed] [Europe PMC] [Abstract]

"Physiological modulation of CFTR activity by AMP-activated protein kinase in polarized T84 cells."
Am. J. Physiol. 284:C1297-C1308(2003) [PubMed] [Europe PMC] [Abstract]

"Myosin VI regulates endocytosis of the cystic fibrosis transmembrane conductance regulator."
J. Biol. Chem. 279:38025-38031(2004) [PubMed] [Europe PMC] [Abstract]

"Cystic fibrosis transmembrane conductance regulator and the etiology and pathogenesis of cystic fibrosis."
FASEB J. 6:2775-2782(1992) [PubMed] [Europe PMC] [Abstract]

"Characterization of disease-associated mutations affecting an exonic splicing enhancer and two cryptic splice sites in exon 13 of the cystic fibrosis transmembrane conductance regulator gene."
Hum. Mol. Genet. 12:2031-2040(2003) [PubMed] [Europe PMC] [Abstract]

"Phosphorylation of protein kinase C sites in NBD1 and the R domain control CFTR channel activation by PKA."
J. Physiol. (Lond.) 548:39-52(2003) [PubMed] [Europe PMC] [Abstract]

"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."
J. Biol. Chem. 282:23725-23736(2007) [PubMed] [Europe PMC] [Abstract]

"The deubiquitinating enzyme USP10 regulates the post-endocytic sorting of cystic fibrosis transmembrane conductance regulator in airway epithelial cells."
J. Biol. Chem. 284:18778-18789(2009) [PubMed] [Europe PMC] [Abstract]

"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]

"CFTR and TMEM16A are separate but functionally related Cl-channels."
Cell. Physiol. Biochem. 28:715-724(2011) [PubMed] [Europe PMC] [Abstract]

"Epithelial sodium channels (ENaC) are uniformly distributed on motile cilia in the oviduct and the respiratory airways."
Histochem. Cell Biol. 137:339-353(2012) [PubMed] [Europe PMC] [Abstract]

"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. 21:1287-1298(2012) [PubMed] [Europe PMC] [Abstract]

"Purification of CFTR for mass spectrometry analysis: identification of palmitoylation and other post-translational modifications."
Protein Eng. Des. Sel. 25:7-14(2012) [PubMed] [Europe PMC] [Abstract]

"RNF185 is a novel E3 ligase of endoplasmic reticulum-associated degradation (ERAD) that targets cystic fibrosis transmembrane conductance regulator (CFTR)."
J. Biol. Chem. 288:31177-31191(2013) [PubMed] [Europe PMC] [Abstract]

"A model for the nucleotide-binding domains of ABC transporters based on the large domain of aspartate aminotransferase."
Proteins 30:275-286(1998) [PubMed] [Europe PMC] [Abstract]

"Structural basis of the Na+/H+ exchanger regulatory factor PDZ1 interaction with the carboxyl-terminal region of the cystic fibrosis transmembrane conductance regulator."
J. Biol. Chem. 276:19683-19686(2001) [PubMed] [Europe PMC] [Abstract]

"Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium."
Hum. Mutat. 1:197-203(1992) [PubMed] [Europe PMC] [Abstract]

"A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein."
Nature 346:366-369(1990) [PubMed] [Europe PMC] [Abstract]

"Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene."
Proc. Natl. Acad. Sci. U.S.A. 87:8447-8451(1990) [PubMed] [Europe PMC] [Abstract]

"Detection of three rare frameshift mutations in the cystic fibrosis gene in an African-American (CF444delA), an Italian (CF2522insC), and a Soviet (CF3821delT)."
Genomics 10:266-269(1991) [PubMed] [Europe PMC] [Abstract]

"Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation."
Hum. Mol. Genet. 1:11-17(1992) [PubMed] [Europe PMC] [Abstract]

"A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene."
Hum. Mol. Genet. 1:123-125(1992) [PubMed] [Europe PMC] [Abstract]

"A serine to proline substitution (S1255P) in the second nucleotide binding fold of the cystic fibrosis gene."
Hum. Mol. Genet. 1:441-442(1992) [PubMed] [Europe PMC] [Abstract]

"Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP."
Hum. Mol. Genet. 1:439-440(1992) [PubMed] [Europe PMC] [Abstract]

"Identification of the M1101K mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene and complete detection of cystic fibrosis mutations in the Hutterite population."
Am. J. Hum. Genet. 52:609-615(1993) [PubMed] [Europe PMC] [Abstract]

"Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene."
Genomics 16:296-297(1993) [PubMed] [Europe PMC] [Abstract]

"A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype."
Hum. Mol. Genet. 2:79-80(1993) [PubMed] [Europe PMC] [Abstract]

"Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype."
Hum. Mol. Genet. 2:1741-1742(1993) [PubMed] [Europe PMC] [Abstract]

"Screening of 62 mutations in a cohort of cystic fibrosis patients from north eastern Italy: their incidence and clinical features of defined genotypes."
Hum. Mutat. 2:389-394(1993) [PubMed] [Europe PMC] [Abstract]

"Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene."
Genomics 21:434-436(1994) [PubMed] [Europe PMC] [Abstract]

"Novel cystic fibrosis mutation associated with mild disease in Cypriot patients."
Hum. Genet. 93:529-532(1994) [PubMed] [Europe PMC] [Abstract]

"Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients."
Hum. Genet. 94:533-542(1994) [PubMed] [Europe PMC] [Abstract]

"A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene."
Hum. Hered. 44:238-240(1994) [PubMed] [Europe PMC] [Abstract]

"Identification of two new mutations (711 +3A-->G and V1397E) in CF chromosomes of Albanian and Macedonian origin."
Hum. Mol. Genet. 3:999-1000(1994) [PubMed] [Europe PMC] [Abstract]

"A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR."
Hum. Mol. Genet. 3:1001-1002(1994) [PubMed] [Europe PMC] [Abstract]

"Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4)."
Hum. Mutat. 3:223-230(1994) [PubMed] [Europe PMC] [Abstract]

"A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene."
Hum. Mutat. 3:395-396(1994) [PubMed] [Europe PMC] [Abstract]

"Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients."
Am. J. Hum. Genet. 56:272-277(1995) [PubMed] [Europe PMC] [Abstract]

"Structural analysis of CFTR gene in congenital bilateral absence of vas deferens."
Clin. Chem. 41:833-835(1995) [PubMed] [Europe PMC] [Abstract]

"Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations."
Hum. Genet. 96:312-318(1995) [PubMed] [Europe PMC] [Abstract]

"Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype."
Hum. Genet. 96:717-720(1995) [PubMed] [Europe PMC] [Abstract]

"Identification of six mutations (R31L, 441delA, 681delC, 1461ins4, W1089R, E1104X) in the cystic fibrosis transmembrane conductance regulator (CFTR) gene."
Hum. Mutat. 5:43-47(1995) [PubMed] [Europe PMC] [Abstract]

"Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles."
Hum. Mutat. 5:205-209(1995) [PubMed] [Europe PMC] [Abstract]

"Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult."
Hum. Mutat. 6:190-191(1995) [PubMed] [Europe PMC] [Abstract]

"A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration."
J. Pediatr. 127:281-283(1995) [PubMed] [Europe PMC] [Abstract]

"Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients."
Mol. Cell. Probes 9:135-137(1995) [PubMed] [Europe PMC] [Abstract]

"Distribution of CFTR mutations in cystic fibrosis patients of Tunisian origin: identification of two novel mutations."
Eur. J. Hum. Genet. 4:20-24(1996) [PubMed] [Europe PMC] [Abstract]

"Novel missense mutation (G314R) in a cystic fibrosis patient with hepatic failure."
Hum. Mutat. 7:151-154(1996) [PubMed] [Europe PMC] [Abstract]

"A novel mutation in exon 12 (Y569C) of the CFTR gene identified in a patient of Croatian origin."
Hum. Mutat. 7:374-375(1996) [PubMed] [Europe PMC] [Abstract]

"Identification of three novel mutations in the cystic fibrosis transmembrane conductance regulator gene in Argentinian CF patients."
Hum. Mutat. 7:376-377(1996) [PubMed] [Europe PMC] [Abstract]

"Mutation characterization of CFTR gene in 206 Northern Irish CF families: thirty mutations, including two novel, account for approximately 94% of CF chromosomes."
Hum. Mutat. 8:340-347(1996) [PubMed] [Europe PMC] [Abstract]

"Identification of two mutations (S50Y and 4173delC) in the CFTR gene from patients with congenital bilateral absence of vas deferens (CBAVD)."
Hum. Mutat. 9:183-184(1997) [PubMed] [Europe PMC] [Abstract]

"Identification of four novel mutations in the cystic fibrosis transmembrane conductance regulator gene: E664X, 2113delA, 306delTAGA, and delta M1140."
Hum. Mutat. 9:368-369(1997) [PubMed] [Europe PMC] [Abstract]

"Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient."
Hum. Mutat. 10:86-87(1997) [PubMed] [Europe PMC] [Abstract]

"Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients."
Hum. Mutat. 10:387-392(1997) [PubMed] [Europe PMC] [Abstract]

"Cystic fibrosis mutation frequencies in upstate New York."
Hum. Mutat. 10:436-442(1997) [PubMed] [Europe PMC] [Abstract]

"Cystic fibrosis transmembrane-conductance regulator mutations among African Americans."
Am. J. Hum. Genet. 62:195-196(1998) [PubMed] [Europe PMC] [Abstract]

"Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I)."
Hum. Genet. 102:224-230(1998) [PubMed] [Europe PMC] [Abstract]

"Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease."
Hum. Genet. 103:718-722(1998) [PubMed] [Europe PMC] [Abstract]

"Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator."
Hum. Mol. Genet. 7:1761-1769(1998) [PubMed] [Europe PMC] [Abstract]

"Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C)."
Hum. Mutat. 11:152-157(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin."
Hum. Mutat. 11:337-337(1998) [PubMed] [Europe PMC] [Abstract]

"Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121+1G-->A in four French patients."
Hum. Mutat. Suppl. 1:S78-S80(1998) [PubMed] [Europe PMC] [Abstract]

"Paternal origin of a de novo novel CFTR mutation (L1065R) causing cystic fibrosis."
Hum. Mutat. Suppl. 1:S99-S102(1998) [PubMed] [Europe PMC] [Abstract]

"A 2-amino acid insertion mutation (1243insACAAAA) in exon 7 of the CFTR gene."
Hum. Mutat. Suppl. 1:S156-S157(1998) [PubMed] [Europe PMC] [Abstract]

"A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient."
Hum. Mutat. 12:213-214(1998) [PubMed] [Europe PMC] [Abstract]

"Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations."
Hum. Mutat. 12:480-480(1998)

"Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement."
Hum. Mutat. 13:173-173(1999) [PubMed] [Europe PMC] [Abstract]

"DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome."
Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract]