Linked Life Data

CPATH-288

Source:http://cbio.mskcc.org/cpath#CPATH-288

Statements in which the resource exists.
SubjectPredicateObjectContext
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cpath:CPATH-288http://www.biopax.org/relea...Cystic fibrosis transmembrane conductance regulatorlld:biogrid
cpath:CPATH-288http://www.biopax.org/relea...CFTR_HUMANlld:biogrid
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cpath:CPATH-288http://www.biopax.org/relea...Channel conductance-controlling ATPaselld:biogrid
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cpath:CPATH-288http://www.biopax.org/relea...ATP-binding cassette sub-family C member 7lld:biogrid
cpath:CPATH-288http://www.biopax.org/relea...CFTRlld:biogrid
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cpath:CPATH-288http://www.biopax.org/relea...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. SUBCELLULAR LOCATION: Early endosome membrane; Multi-pass membrane protein. ALTERNATIVE PRODUCTS: Event=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); 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. 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"; GENE SYNONYMS: ABCC7. COPYRIGHT: Protein annotation is derived from the UniProt Consortium (http://www.uniprot.org/). Distributed under the Creative Commons Attribution-NoDerivs License.lld:biogrid
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