lmmol · Proteins

Cystic fibrosis transmembrane conductance regulator

UniProt P13569 Organism Homo sapiens Gene ABCC7, CFTR EC 5.6.1.6

Also known as: ABCC7, CFTR

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.

Classification

Family (Pfam)
PF00664 ABC_membrane, PF00005 ABC_tran, PF14396 CFTR_R
InterPro
AAA+_ATPase, ABC1_TM_dom, ABC1_TM_sf, ABC_transporter-like_ATP-bd, ABC_transporter-like_CS, ABC_transporter_C-like, CFTR/ABCC7, CFTR1_ATP-bd_dom1, CFTR_reg_dom, P-loop_NTPase
Functional cluster
Serine/Threonine Protein Kinases

Experimental structures · PDB · 58

A predicted model is available from AlphaFold.

Gene Ontology · 49

Disease associations

Drugs targeting this protein · 12

Related proteins · sequence + function similarity

Co-cited proteins · studied together in the literature

Literature · 138 cited papers

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