This website uses cookies to ensure you get the best experience on our website.
- Table of Contents
Facts about Cystic fibrosis transmembrane conductance regulator.
Exerts its role also by regulating the action of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428).
Human | |
---|---|
Gene Name: | CFTR |
Uniprot: | P13569 |
Entrez: | 1080 |
Belongs to: |
---|
ABC transporter superfamily |
ABC35; ABCC7CF; ATP-binding cassette sub-family C member 7; ATP-binding cassette transporter sub-family C member 7; cAMP-dependent chloride channel; CFTR; CFTR/MRP; Channel conductance-controlling ATPase; cystic fibrosis transmembrane conductance regulator (ATP-binding cassettesub-family C, member 7); cystic fibrosis transmembrane conductance regulator; cystic fibrosis transmembrane conductance regulator, ATP-binding cassette(sub-family C, member 7); dJ760C5.1; EC 3.6.3; MRP7EC 3.6.3.49; TNR-CFTR
Mass (kDA):
168.142 kDA
Human | |
---|---|
Location: | 7q31.2 |
Sequence: | 7; NC_000007.14 (117480025..117668665) |
Expressed in the respiratory airway, including bronchial epithelium, and in the female reproductive tract, including oviduct (at protein level) (PubMed:22207244, PubMed:15716351). Detected in pancreatic intercalated ducts in the exocrine tissue, on epithelial cells in intralobular striated ducts in sublingual salivary glands, on apical membranes of crypt cells throughout the small and large intestine, and on the reabsorptive duct in eccrine sweat glands (PubMed:1284548, PubMed:28130590). Detected on the equatorial segment of the sperm head (at protein level) (PubMed:19923167). Detected in nasal and bronchial superficial epithelium (PubMed:15716351). Expressed by the central cells on the sebaceous glands, dermal adipocytes and, at lower levels, by epithelial cells (PubMed:28130590).
Apical cell membrane; Multi-pass membrane protein. Early endosome membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Recycling endosome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane; Multi-pass membrane protein. Nucleus. The channel is internalized from the cell surface into an endosomal recycling compartment, from where it is recycled to the cell membrane (PubMed:17462998, PubMed:19398555, PubMed:20008117). In the oviduct and bronchus, detected on the apical side of epithelial cells, but not associated with cilia (PubMed:22207244). In Se
PMID: 2475911 by Riordan J.R., et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA.
PMID: 1710598 by Zielenski J., et al. Genomic DNA sequence of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.