CFTR — CF transmembrane conductance regulator
CFTR belongs to a gene co-expression module in 2 of 28 SCUBA cell types. Each module groups genes that rise and fall together in that cell type; the genes it shares a module with are its closest co-expression partners there.
CFTR's module in each cell type
| Cell type | Module | Shares the module with | |
|---|---|---|---|
| Enterocytes | Crypt CFTR secretion Secretion | ACACA, DACH1, EIF4G3, EML4, HNMT, MBOAT1, PLCE1, SULT1E1 +1 more | View in SCUBA |
| Goblet cells | Mature Colonocyte Function Epithelial development | ADD3, CERS6, GAS6, LEFTY1, MAOA, NOX1, PDCD4, PLBD1 +2 more | View in SCUBA |
About the gene
| Synonyms | ABC35, ABCC7, CF, CFTR/MRP, dJ760C5.1, MRP7, TNR-CFTR |
|---|---|
| Chromosome | 7: 117287120-117715971 |
| Predicted location | Intracellular, Membrane |
| Essential gene | No |
| Protein class | Cancer-related genes, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins, Transporters |
| Molecular function | Chloride channel, Ion channel, Isomerase |
| Biological process | Ion transport, Transport |
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. Possesses an intrinsic ATPase activity and utilizes ATP to gate its channel; the passive flow of anions through the channel is gated by cycles of ATP binding and hydrolysis by the ATP-binding domains. The ion channel is also permeable to HCO(3)(-); selectivity depends on the extracellular chloride concentration. In vitro, mediates ATP-dependent glutathione flux. Exerts its function also by modulating the activity of other ion channels and transporters. Plays an important role in airway fluid homeostasis. Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens. Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex. Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G. Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7. Can inhibit the chloride channel activity of ANO1. Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation.
Human Protein Atlas · Open Targets · UniProt
Gene annotation from the Human Protein Atlas and UniProt; see sources & licences.