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CFTR a member of the MRP subfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. Functions as a chloride channel and controls the regulation of other transport pathways. Mutations have been observed in patients with the autosomal recessive disorders cystic fibrosis (CF) and congenital bilateral aplasia of the vas deferens (CBAVD). Alternative splice Note: This description may include information from UniProtKB.
Protein type: Channel, chloride; EC; Hydrolase; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ABC family
Chromosomal Location of Human Ortholog: 7q31.2
Cellular Component: apical plasma membrane; cell surface; clathrin coated vesicle membrane; cytoplasm; cytosol; early endosome; endoplasmic reticulum membrane; endosome membrane; integral to membrane; integral to plasma membrane; lysosomal membrane; plasma membrane; protein complex; recycling endosome
Molecular Function: anion transmembrane-transporting ATPase activity; ATPase activity; ATPase activity, coupled to transmembrane movement of substances; bicarbonate transmembrane transporter activity; channel-conductance-controlling ATPase activity; chloride channel activity; chloride channel inhibitor activity; chloride channel regulator activity; chloride transmembrane transporter activity; enzyme binding; PDZ domain binding; protein binding
Biological Process: bicarbonate transport; intracellular pH elevation; membrane hyperpolarization; multicellular organismal water homeostasis; positive regulation of exocytosis; protein deubiquitination; sperm capacitation; transmembrane transport
Disease: Bronchiectasis With Or Without Elevated Sweat Chloride 1; Cystic Fibrosis; Pancreatitis, Hereditary; Vas Deferens, Congenital Bilateral Aplasia Of
Reference #:  P13569 (UniProtKB)
Alt. Names/Synonyms: ABC35; ABCC7; ATP-binding cassette sub-family C member 7; ATP-binding cassette transporter sub-family C member 7; cAMP-dependent chloride channel; CF; CFTR; CFTR/MRP; Channel conductance-controlling ATPase; Cystic fibrosis transmembrane conductance regulator; cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7); dJ760C5.1; MRP7; TNR-CFTR
Gene Symbols: CFTR
Molecular weight: 168,142 Da
Basal Isoelectric point: 8.91  Predict pI for various phosphorylation states
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