Human Gene CFTR (ENST00000649781.1) from GENCODE V38
Description: Involved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. (from UniProt P13569) RefSeq Summary (NM_000492): This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017]. Gencode Transcript: ENST00000649781.1 Gencode Gene: ENSG00000001626.16 Transcript (Including UTRs) Position: hg38 chr7:117,480,095-117,667,108 Size: 187,014 Total Exon Count: 26 Strand: + Coding Region Position: hg38 chr7:117,480,095-117,667,108 Size: 187,014 Coding Exon Count: 26
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=184.108.40.206; 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";
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.