Protein Details: Cystic fibrosis transmembrane conductance regulator
Protein ID
ICDB_Pro_0441
Protein Name
Cystic fibrosis transmembrane conductance regulator
Gene Name
Cftr; Abcc7
Organism
Mus musculus (Mouse)
Length
1476 amino acids
AlphaFoldDB
AF-P26361-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 . 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. Modulates the activity of the epithelial sodium channel (ENaC) complex; in part by regulating the cell surface expression of the ENaC complex. May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7. Can inhibit the chloride channel activity of ANO1 (By similarity). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation .
Sequence
Ligand Binding
Binding Site
BINDING 401; /ligand="ATP"; BINDING 458..465; /ligand="ATP"; BINDING 493; /ligand="ATP"; BINDING 1215; /ligand="ATP"; BINDING 1240..1247; /ligand="ATP"
Disease
Location
Expressed in the epididymis (at protein level) (PubMed:30659401). In the initial segment of the epididymis; detected on both the luminal and basolateral sides of the ducts where it is expressed in the duct columnar cells as well as in the interstitial smooth muscle cells (PubMed:30659401). Expressed in sperm in the caput (PubMed:30659401). Expressed in sperm in the caput (PubMed:30659401). Expressed in sperm in the caput (PubMed:30659401). In the cauda; detected along the luminal border but not continuously and is also expressed on the basolateral surface (PubMed:30659401). Within the caudal lumen; detected on sperm (PubMed:30659401). Isoform 1: Expressed in a variety of epithelial tissues including colon; kidney; lung; small intestine; pancreatic duct and testis (PubMed:7691356). Isoform 2: Expressed only in testis (PubMed:7691356). Isoform 3: Expressed only in testis (PubMed:7691356)..
DOI ID
10.1016/0888-7543(91)90312-3; 10.1016/0888-7543(91)90434-g; 10.1073/pnas.97.3.1172; 10.1093/hmg/3.7.1089; 10.1038/ng0893-426; 10.1038/ng0593-35; 10.1172/jci36983; 10.1016/j.cell.2010.12.001; 10.1073/pnas.0902661107; 10.1095/biolreprod.111.094037; 10.1053/j.gastro.2013.03.047; 10.1126/science.aad5589; 10.1016/j.cell.2011.07.021; 10.1007/s10735-019-09813-3; 10.1038/sj.emboj.7600040; 10.1038/nsmb881; 10.1016/j.cell.2011.11.023
RefSeq
NP_066388.1 [P26361-1]; XP_006505040.1; XP_006505041.1