ID:CFTR_HUMAN DESCRIPTION: RecName: Full=Cystic fibrosis transmembrane conductance regulator; Short=CFTR; AltName: Full=ATP-binding cassette sub-family C member 7; AltName: Full=Channel conductance-controlling ATPase; EC=3.6.3.49; AltName: Full=cAMP-dependent chloride channel; FUNCTION: Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate. SUBUNIT: Interacts with SHANK2 (By similarity). Interacts with SLC9A3R1, MYO6 and GOPC. Interacts with SLC4A7 through SLC9A3R1. Found in a complex with MYO5B and RAB11A. INTERACTION: P51572:BCAP31; NbExp=3; IntAct=EBI-349854, EBI-77683; Q9BUN8:DERL1; NbExp=2; IntAct=EBI-349854, EBI-398977; Q9H8Y8:GORASP2; NbExp=3; IntAct=EBI-349854, EBI-739467; Q9HBW0:LPAR2; NbExp=4; IntAct=EBI-349854, EBI-765995; Q5T2W1:PDZK1; NbExp=2; IntAct=EBI-349854, EBI-349819; Q99942:RNF5; NbExp=3; IntAct=EBI-349854, EBI-348482; Q96RN1:SLC26A8; NbExp=2; IntAct=EBI-349854, EBI-1792052; O14745:SLC9A3R1; NbExp=2; IntAct=EBI-349854, EBI-349787; Q15599:SLC9A3R2; NbExp=4; IntAct=EBI-349854, EBI-1149760; SUBCELLULAR LOCATION: Early endosome membrane; Multi-pass membrane protein. TISSUE SPECIFICITY: Found on the surface of the epithelial cells that line the lungs and other organs. DOMAIN: The PDZ-binding motif mediates interactions with GOPC and with the SLC4A7, SLC9A3R1/EBP50 complex. PTM: Phosphorylated; activates the channel. It is not clear whether PKC phosphorylation itself activates the channel or permits activation by phosphorylation at PKA sites. Phosphorylated by AMPK. PTM: Ubiquitinated, leading to its degradation in the lysosome. Deubiquitination by USP10 in early endosomes, enhances its endocytic recycling. DISEASE: Defects in CFTR are the cause of cystic fibrosis (CF) [MIM:219700]; also known as mucoviscidosis. CF is the most common genetic disease in the Caucasian population, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. CF is a common generalized disorder of exocrine gland function which impairs clearance of secretions in a variety of organs. It is characterized by the triad of chronic bronchopulmonary disease (with recurrent respiratory infections), pancreatic insufficiency (which leads to malabsorption and growth retardation) and elevated sweat electrolytes. DISEASE: Defects in CFTR are the cause of congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]. CBAVD is an important cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens. SIMILARITY: Belongs to the ABC transporter superfamily. ABCC family. CFTR transporter (TC 3.A.1.202) subfamily. SIMILARITY: Contains 2 ABC transmembrane type-1 domains. SIMILARITY: Contains 2 ABC transporter domains. WEB RESOURCE: Name=CFTR; Note=Cystic fibrosis mutation db; URL="http://www.genet.sickkids.on.ca/cftr/app"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CFTR"; WEB RESOURCE: Name=Wikipedia; Note=CFTR entry; URL="http://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator"; WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P13569";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P13569
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0006695 cholesterol biosynthetic process GO:0006811 ion transport GO:0006821 chloride transport GO:0006904 vesicle docking involved in exocytosis GO:0015701 bicarbonate transport GO:0016579 protein deubiquitination GO:0030301 cholesterol transport GO:0035377 transepithelial water transport GO:0035774 positive regulation of insulin secretion involved in cellular response to glucose stimulus GO:0045921 positive regulation of exocytosis GO:0048240 sperm capacitation GO:0050891 multicellular organismal water homeostasis GO:0051454 intracellular pH elevation GO:0055085 transmembrane transport GO:0060081 membrane hyperpolarization GO:0061024 membrane organization GO:0071320 cellular response to cAMP GO:0099133 ATP hydrolysis coupled anion transmembrane transport GO:1902161 positive regulation of cyclic nucleotide-gated ion channel activity GO:1902476 chloride transmembrane transport GO:1902943 positive regulation of voltage-gated chloride channel activity GO:1904322 cellular response to forskolin
M28668 - Human cystic fibrosis mRNA, encoding a presumed transmembrane conductance regulator (CFTR). JC612186 - Sequence 1 from Patent WO2014045283. JC612196 - Sequence 11 from Patent WO2014045283. JC612197 - Sequence 12 from Patent WO2014045283. BC143713 - Homo sapiens cDNA clone IMAGE:9052227, containing frame-shift errors. BC156254 - Synthetic construct Homo sapiens clone IMAGE:100061681, MGC:190072 cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR) mRNA, encodes complete protein. LF636471 - JP 2016517437-A/1: CFTR MRNA COMPOSITIONS AND RELATED METHODS AND USES. LG162859 - KR 1020160010398-A/2: CFTR MRNA COMPOSITIONS AND RELATED METHODS AND USES. LP043843 - Sequence 2 from Patent WO2014153052. MP152080 - Sequence 2 from Patent EP3446712. MB442950 - JP 2018100307-A/1: CFTR MRNA COMPOSITIONS AND RELATED METHODS AND USES. MP455657 - Sequence 1 from Patent EP3591052. MP455667 - Sequence 11 from Patent EP3591052. MP455668 - Sequence 12 from Patent EP3591052. DQ656054 - Homo sapiens clone UGLsupplH, mRNA sequence. LP986380 - Sequence 18 from Patent EP3201339. MA014040 - JP 2017536338-A/18: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. JD126487 - Sequence 107511 from Patent EP1572962. LP986382 - Sequence 20 from Patent EP3201339. MA014042 - JP 2017536338-A/20: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986384 - Sequence 22 from Patent EP3201339. MA014044 - JP 2017536338-A/22: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986386 - Sequence 24 from Patent EP3201339. MA014046 - JP 2017536338-A/24: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986388 - Sequence 26 from Patent EP3201339. MA014048 - JP 2017536338-A/26: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986390 - Sequence 28 from Patent EP3201339. MA014050 - JP 2017536338-A/28: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986392 - Sequence 30 from Patent EP3201339. MA014052 - JP 2017536338-A/30: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986394 - Sequence 32 from Patent EP3201339. MA014054 - JP 2017536338-A/32: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986396 - Sequence 34 from Patent EP3201339. MA014056 - JP 2017536338-A/34: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. JC612187 - Sequence 2 from Patent WO2014045283. LP986398 - Sequence 36 from Patent EP3201339. MA014058 - JP 2017536338-A/36: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. JD565722 - Sequence 546746 from Patent EP1572962. JD042021 - Sequence 23045 from Patent EP1572962. LP986400 - Sequence 38 from Patent EP3201339. MA014060 - JP 2017536338-A/38: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. X73053 - H.sapiens CFTR mutation mRNA. LP986402 - Sequence 40 from Patent EP3201339. MA014062 - JP 2017536338-A/40: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986404 - Sequence 42 from Patent EP3201339. MA014064 - JP 2017536338-A/42: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986406 - Sequence 44 from Patent EP3201339. MA014066 - JP 2017536338-A/44: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. S82430 - TNR-CFTR=cystic fibrosis transmembrane conductance regulator isoform {alternatively spliced} [human, kidney, renal medulla, mRNA Partial, 209 nt]. LP986408 - Sequence 46 from Patent EP3201339. MA014068 - JP 2017536338-A/46: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986410 - Sequence 48 from Patent EP3201339. MA014070 - JP 2017536338-A/48: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986412 - Sequence 50 from Patent EP3201339. MA014072 - JP 2017536338-A/50: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986414 - Sequence 52 from Patent EP3201339. MA014074 - JP 2017536338-A/52: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986416 - Sequence 54 from Patent EP3201339. MA014076 - JP 2017536338-A/54: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986418 - Sequence 56 from Patent EP3201339. MA014078 - JP 2017536338-A/56: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986420 - Sequence 58 from Patent EP3201339. MA014080 - JP 2017536338-A/58: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986422 - Sequence 60 from Patent EP3201339. MA014082 - JP 2017536338-A/60: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986424 - Sequence 62 from Patent EP3201339. MA014084 - JP 2017536338-A/62: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986426 - Sequence 64 from Patent EP3201339. MA014086 - JP 2017536338-A/64: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986428 - Sequence 66 from Patent EP3201339. MA014088 - JP 2017536338-A/66: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986430 - Sequence 68 from Patent EP3201339. MA014090 - JP 2017536338-A/68: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. LP986432 - Sequence 70 from Patent EP3201339. MA014092 - JP 2017536338-A/70: TARGETED AUGMENTATION OF NUCLEAR GENE OUTPUT. JD263272 - Sequence 244296 from Patent EP1572962. JD512183 - Sequence 493207 from Patent EP1572962. JD113316 - Sequence 94340 from Patent EP1572962. JD049900 - Sequence 30924 from Patent EP1572962. JD296835 - Sequence 277859 from Patent EP1572962. JD511154 - Sequence 492178 from Patent EP1572962. JD171807 - Sequence 152831 from Patent EP1572962. JD276937 - Sequence 257961 from Patent EP1572962. JD115070 - Sequence 96094 from Patent EP1572962. JD528418 - Sequence 509442 from Patent EP1572962. JD454272 - Sequence 435296 from Patent EP1572962. JD174882 - Sequence 155906 from Patent EP1572962. MP455658 - Sequence 2 from Patent EP3591052.
Biochemical and Signaling Pathways
BioCarta from NCI Cancer Genome Anatomy Project h_cftrPathway - Cystic fibrosis transmembrane conductance regulator (CFTR) and beta 2 adrenergic receptor (b2AR) pathway
Reactome (by CSHL, EBI, and GO)
Protein P13569 (Reactome details) participates in the following event(s):
R-HSA-5679000 Ivacaftor binds CFTR G551D R-HSA-8866857 CFTR F508del binds components of the ERAD machinery for ubiquitination and degradation R-HSA-8866551 CFTR binds components of the ERAD machinery for ubiquitination and degradation R-HSA-383190 HCO3- transport through ion channel R-HSA-5678863 CFTR transports Cl- from cytosol to extracellular region R-HSA-8866856 RNF5 and RNF185 ubiquitinate CFTR F508del R-HSA-8866854 VCP-catalyzed ATP hydrolysis promotes the translocation of CFTR F508del into the cytosol R-HSA-8866542 VCP-catalyzed ATP hydrolysis promotes the translocation of misfolded CFTR into the cytosol R-HSA-8866546 RNF5 and RNF185 ubiquitinate misfolded CFTR R-HSA-1454916 The ABCC family mediates organic anion transport R-HSA-5627072 RHOQ binds GOPC:CFTR R-HSA-5627275 GOPC promotes translocation of CFTR to lysosomes R-HSA-5678992 Ivacaftor:CFTR G551D transports Cl- from cytosol to extracellular region R-HSA-6782106 USP10 deubiquitinates SNX3, CFTR R-HSA-8866277 AP-2 directly binds some endocytic cargo R-HSA-5627071 RHOQ positively regulates trafficking of GOPC:CFTR to the plasma membrane R-HSA-8867756 CLASP proteins and cargo are recruited to the nascent clathrin-coated pit R-HSA-8868071 Clathrin recruits PIK3C2A R-HSA-8868661 Dynamin-mediated GTP hydrolysis promotes vesicle scission R-HSA-8868648 SYNJ hydrolyze PI(4,5)P2 to PI(4)P R-HSA-8871194 RAB5 and GAPVD1 bind AP-2 R-HSA-8868658 HSPA8-mediated ATP hydrolysis promotes vesicle uncoating R-HSA-8868659 Clathrin recruits auxilins to the clathrin-coated vesicle R-HSA-8868660 Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle R-HSA-8867754 F- and N- BAR domain proteins bind the clathrin-coated pit R-HSA-8868230 SNX9 recruits components of the actin polymerizing machinery R-HSA-8868072 Clathrin-associated PIK3C2A phosphorylates PI(4)P to PI(3,4)P2 R-HSA-8868236 BAR domain proteins recruit dynamin R-HSA-8868651 Endophilins recruit synaptojanins to the clathrin-coated pit R-HSA-382556 ABC-family proteins mediated transport R-HSA-5678895 Defective CFTR causes cystic fibrosis R-HSA-382551 Transport of small molecules R-HSA-5619084 ABC transporter disorders R-HSA-5627083 RHO GTPases regulate CFTR trafficking R-HSA-5619115 Disorders of transmembrane transporters R-HSA-5689880 Ub-specific processing proteases R-HSA-8856825 Cargo recognition for clathrin-mediated endocytosis R-HSA-195258 RHO GTPase Effectors R-HSA-1643685 Disease R-HSA-5688426 Deubiquitination R-HSA-8856828 Clathrin-mediated endocytosis R-HSA-194315 Signaling by Rho GTPases R-HSA-597592 Post-translational protein modification R-HSA-199991 Membrane Trafficking R-HSA-162582 Signal Transduction R-HSA-392499 Metabolism of proteins R-HSA-5653656 Vesicle-mediated transport
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
