CFTR (NM_000492) - cystic fibrosis transmembrane conductance regulator

Cystic Fibrosis Transmembrane Conductance Regulator

Mutations Visualisation

Protein summary

This is preferred isoform of CFTR protein.
CFTR: cystic fibrosis transmembrane conductance regulator
Description:

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithelial tissues. Channel activation is mediated by cycles of regulatory domain phosphorylation, ATP-binding by the nucleotide-binding domains, and ATP hydrolysis. Mutations in this gene cause cystic fibrosis, the most common lethal genetic disorder in populations of Northern European descent. The most frequently occurring mutation in cystic fibrosis, DeltaF508, results in impaired folding and trafficking of the encoded protein. Multiple pseudogenes have been identified in the human genome. [provided by RefSeq, Aug 2017].

Publication Note:
This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.

Evidence data:
Transcript exon combination :: M28668.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA1968832 [ECO:0000348]

Strand
+
Chromosome
7
Protein
1480 residues
All mutations
699
PTM sites
33
CDS
117,120,148 - 117,307,162
Transcription
117,120,016 - 117,308,718
23.85% of sequence is predicted to be disordered

External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 1080
UniProt
Ensembl