Protein Details: Cystic fibrosis transmembrane conductance regulator
Protein ID
ICDB_Pro_0860
Protein Name
Cystic fibrosis transmembrane conductance regulator
Gene Name
cftr
Organism
Danio rerio (Zebrafish) (Brachydanio rerio)
Length
1485 amino acids
AlphaFoldDB
AF-Q1LX78-F1-model_v4.pdb
Function
Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis . Mediates the transport of chloride ions across the cell membrane (By similarity). Channel activity is coupled to ATP hydrolysis. The ion channel is also permeable to HCO(3)(-); selectivity depends on the extracellular chloride concentration. Exerts its function also by modulating the activity of other ion channels and transporters. Contributes to the regulation of the pH and the ion content of the epithelial fluid layer (By similarity). Required for normal fluid homeostasis in the gut . Required for normal volume expansion of Kupffers vesicle during embryonic development and for normal establishment of left-right body patterning . Required for normal resistance to infection by P.aeruginosa strain PA14 and strain SMC573 .
Sequence
Ligand Binding
Binding Site
BINDING 402; /ligand="ATP"; BINDING 457..464; /ligand="ATP"; BINDING 492; /ligand="ATP"; BINDING 1220; /ligand="ATP"; BINDING 1245..1252; /ligand="ATP"
Disease
Location
Detected in gut epithelium (at protein level) (PubMed:20933420). Detected in kidney; spleen; intestine and liver (PubMed:20732993). Detected in pancreatic duct epithelium at 5 dpf and throughout adult life (PubMed:25592226). Detected in pancreatic duct epithelium at 5 dpf and throughout adult life (PubMed:25592226). Detected in pancreatic duct epithelium at 5 dpf and throughout adult life (PubMed:25592226).
DOI ID
10.1038/nature12111; 10.1016/j.cub.2010.09.012; 10.1128/iai.00302-10; 10.1242/dev.091819; 10.1242/bio.014076; 10.1016/j.ydbio.2014.12.034; 10.1016/j.cell.2016.11.014
RefSeq
NP_001038348.1