Cystic fibrosis transmembrane conductance regulator

CFTR
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1XMI, 1XMJ, 2BBO, 2BBS, 2BBT, 2LOB, 2PZE, 2PZF, 2PZG, 3GD7, 3ISW, 4WZ6, 5D2D, 5D3E, 5D3F
Identifiers
Aliases	CFTR, ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-dJ760C5.1, cystic fibrosis transmembrane conductance regulator, CF transmembrane conductance regulator
External IDs	OMIM: 602421 MGI: 88388 HomoloGene: 55465 GeneCards: CFTR
EC number	5.6.1.6
Gene location (Human)
Chr.	Chromosome 7 (human)
End	117,715,971 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	18,322,767 bp
RNA expression pattern
	Top expressed in
	body of pancreas; ; gallbladder; ; rectum; ; islet of Langerhans; ; duodenum; ; jejunal mucosa; ; minor salivary gland; ; parotid gland; ; caput epididymis; ; palpebral conjunctiva;
	Top expressed in
	Paneth cell; ; duodenum; ; left colon; ; crypt of lieberkuhn of small intestine; ; jejunum; ; left lung lobe; ; spermatid; ; conjunctival fornix; ; submandibular gland; ; spermatocyte;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; PDZ domain binding; chloride transmembrane transporter activity; protein binding; chloride channel inhibitor activity; enzyme binding; hydrolase activity; ATP binding; chloride channel activity; ATPase-coupled inorganic anion transmembrane transporter activity; chloride channel regulator activity; ATPase-coupled transmembrane transporter activity; intracellularly ATP-gated chloride channel activity; ATPase activity; bicarbonate transmembrane transporter activity; chaperone binding; Sec61 translocon complex binding; isomerase activity;
Cellular component	cytoplasm; recycling endosome; endosome; early endosome membrane; membrane; plasma membrane; chloride channel complex; cell surface; lysosomal membrane; early endosome; Golgi-associated vesicle membrane; endoplasmic reticulum Sec complex; extracellular exosome; cytosol; endosome membrane; clathrin-coated vesicle membrane; integral component of membrane; apical plasma membrane; endoplasmic reticulum; endoplasmic reticulum membrane; recycling endosome membrane; integral component of plasma membrane; nucleus; protein-containing complex;
Biological process	positive regulation of cyclic nucleotide-gated ion channel activity; intracellular pH elevation; membrane hyperpolarization; positive regulation of voltage-gated chloride channel activity; cholesterol transport; ion transport; vesicle docking involved in exocytosis; transmembrane transport; sperm capacitation; positive regulation of insulin secretion involved in cellular response to glucose stimulus; cholesterol biosynthetic process; positive regulation of exocytosis; chloride transport; cellular response to cAMP; protein deubiquitination; membrane organization; chloride transmembrane transport; transepithelial water transport; multicellular organismal water homeostasis; cellular response to forskolin; bicarbonate transport; transport; response to endoplasmic reticulum stress;
	Sources:Amigo / QuickGO
Orthologs
	1080
	12638
	ENSG00000001626
	ENSMUSG00000041301
	P13569
	P26361
	NM_000492
	NM_021050
	NP_000483
	NP_066388
	Wikidata
View/Edit Human	View/Edit Mouse

Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and anion channel in vertebrates that is encoded by the CFTR gene.

Geneticist Lap-Chee Tsui and his team identified the CFTR gene in 1989 as the gene linked with CF (cystic fibrosis).

The CFTR gene codes for an ABC transporter-class ion channel protein that conducts chloride and bicarbonate ions across epithelial cell membranes. Mutations of the CFTR gene affecting anion channel function lead to dysregulation of epithelial lining fluid (mucus) transport in the lung, pancreas and other organs, resulting in cystic fibrosis. Complications include thickened mucus in the lungs with frequent respiratory infections, and pancreatic insufficiency giving rise to malnutrition and diabetes. These conditions lead to chronic disability and reduced life expectancy. In male patients, the progressive obstruction and destruction of the developing vas deferens (spermatic cord) and epididymis appear to result from abnormal intraluminal secretions, causing congenital absence of the vas deferens and male infertility, and found associated with an imbalance of fatty acids.

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