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MGP000533

UniProt Annotations

Entry Information
Gene Namecystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Protein EntryCFTR_HUMAN
UniProt IDP13569
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P13569-1; Sequence=Displayed; Name=2; IsoId=P13569-2; Sequence=VSP_022123; Note=Exon skipping favored by a high number of TG repeats and a low number of T repeats at the intron-exon boundary. Causes congenital bilateral absence of the vas deferens (CBAVD).; Name=3; IsoId=P13569-3; Sequence=VSP_022124, VSP_022125; Note=Alternative acceptor site favored by mutation in an exonic splicing enhancer (ESE). Causes cystic fibrosis (CF).;
Catalytic ActivityATP + H(2)O = ADP + phosphate.
DiseaseCongenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]: 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. {ECO:0000269|PubMed:10651488, ECO:0000269|PubMed:7529962, ECO:0000269|PubMed:7539342, ECO:0000269|PubMed:9067761, ECO:0000269|Ref.77}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseCystic fibrosis (CF) [MIM:219700]: A common generalized disorder of the exocrine glands 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. It is the most common genetic disease in Caucasians, with a prevalence of about 1 in 2'000 live births. Inheritance is autosomal recessive. {ECO:0000269|PubMed:10094564, ECO:0000269|PubMed:1284466, ECO:0000269|PubMed:1284468, ECO:0000269|PubMed:1284529, ECO:0000269|PubMed:1284530, ECO:0000269|PubMed:1695717, ECO:0000269|PubMed:1710600, ECO:0000269|PubMed:2236053, ECO:0000269|PubMed:7504969, ECO:0000269|PubMed:7505694, ECO:0000269|PubMed:7513296, ECO:0000269|PubMed:7517264, ECO:0000269|PubMed:7520022, ECO:0000269|PubMed:7522211, ECO:0000269|PubMed:7524909, ECO:0000269|PubMed:7524913, ECO:0000269|PubMed:7525450, ECO:0000269|PubMed:7537150, ECO:0000269|PubMed:7541273, ECO:0000269|PubMed:7541510, ECO:0000269|PubMed:7543567, ECO:0000269|PubMed:7544319, ECO:0000269|PubMed:7581407, ECO:0000269|PubMed:7680525, ECO:0000269|PubMed:7683628, ECO:0000269|PubMed:7683954, ECO:0000269|PubMed:8081395, ECO:0000269|PubMed:8522333, ECO:0000269|PubMed:8723693, ECO:0000269|PubMed:8723695, ECO:0000269|PubMed:8800923, ECO:0000269|PubMed:8829633, ECO:0000269|PubMed:8956039, ECO:0000269|PubMed:9101301, ECO:0000269|PubMed:9222768, ECO:0000269|PubMed:9375855, ECO:0000269|PubMed:9401006, ECO:0000269|PubMed:9443874, ECO:0000269|PubMed:9452048, ECO:0000269|PubMed:9452054, ECO:0000269|PubMed:9452073, ECO:0000269|PubMed:9482579, ECO:0000269|PubMed:9521595, ECO:0000269|PubMed:9554753, ECO:0000269|PubMed:9736778, ECO:0000269|PubMed:9921909}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DomainThe PDZ-binding motif mediates interactions with GOPC and with the SLC4A7, SLC9A3R1/EBP50 complex.
FunctionInvolved in the transport of chloride ions. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the SLC4A7 transporter. Can inhibit the chloride channel activity of ANO1. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation. {ECO:0000269|PubMed:22178883}.
InteractionP51572:BCAP31; NbExp=3; IntAct=EBI-349854, EBI-77683; P27824:CANX; NbExp=3; IntAct=EBI-349854, EBI-355947; Q9BUN8:DERL1; NbExp=2; IntAct=EBI-349854, EBI-398977; Q9H8Y8:GORASP2; NbExp=3; IntAct=EBI-349854, EBI-739467; P19120:HSPA8 (xeno); NbExp=2; IntAct=EBI-349854, EBI-907802; P05787:KRT8; NbExp=7; IntAct=EBI-349854, EBI-297852; 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; Q9QX74:Shank2 (xeno); NbExp=2; IntAct=EBI-349854, EBI-397902; Q96RN1:SLC26A8; NbExp=2; IntAct=EBI-349854, EBI-1792052; O14745:SLC9A3R1; NbExp=5; IntAct=EBI-349854, EBI-349787; Q15599:SLC9A3R2; NbExp=7; IntAct=EBI-349854, EBI-1149760;
PtmPhosphorylated; 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. {ECO:0000269|PubMed:12519745, ECO:0000269|PubMed:12588899, ECO:0000269|PubMed:1377674, ECO:0000269|PubMed:20068231, ECO:0000269|PubMed:22119790, ECO:0000269|PubMed:9385646}.
PtmUbiquitinated, leading to its degradation in the lysosome. Deubiquitination by USP10 in early endosomes, enhances its endocytic recycling. Ubiquitinated by RNF185 during ER stress. {ECO:0000269|PubMed:19398555, ECO:0000269|PubMed:22119790, ECO:0000269|PubMed:24019521}.
SimilarityBelongs to the ABC transporter superfamily. ABCC family. CFTR transporter (TC 3.A.1.202) subfamily. {ECO:0000305}.
SimilarityContains 2 ABC transmembrane type-1 domains. {ECO:0000255|PROSITE-ProRule:PRU00441}.
SimilarityContains 2 ABC transporter domains. {ECO:0000255|PROSITE-ProRule:PRU00434}.
Subcellular LocationEarly endosome membrane; Multi-pass membrane protein. Cell membrane. Note=In the oviduct and bronchus, detected on the apical side of epithelial cells, but not associated with cilia. {ECO:0000269|PubMed:22207244}.
SubunitInteracts with SLC26A3, SLC26A6 and SHANK2 (By similarity). Interacts with SLC9A3R1, MYO6 and GOPC. Interacts with SLC4A7 through SLC9A3R1. Found in a complex with MYO5B and RAB11A. Interacts with ANO1. Interacts with SLC26A8. {ECO:0000250, ECO:0000269|PubMed:11304524, ECO:0000269|PubMed:11707463, ECO:0000269|PubMed:12403779, ECO:0000269|PubMed:15247260, ECO:0000269|PubMed:17462998, ECO:0000269|PubMed:22121115, ECO:0000269|PubMed:22178883}.
Tissue SpecificityExpressed in the respiratory airway, including bronchial epithelium, and in the female reproductive tract, including oviduct (at protein level). {ECO:0000269|PubMed:22207244}.
Web ResourceName=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=P13569";
Web ResourceName=CFTR; Note=Cystic fibrosis mutation db; URL="http://www.genet.sickkids.on.ca/cftr/app";
Web ResourceName=Wikipedia; Note=CFTR entry; URL="http://en.wikipedia.org/wiki/Cystic_fibrosis_transmembrane_conductance_regulator";
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