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CFTR (NM_000492) - cystic fibrosis transmembrane conductance regulator

Cystic Fibrosis Transmembrane Conductance Regulator

PTM Interaction Network Visualisation
The PTM Interaction Network provides visualization of all PTMs which mediate an interaction between your protein of interest and protein kinases. Each PTM is visualized as a different colour box listing the mutation location and the surrounding amino acid sequence. These PTMs originate from your protein of interest (circle with a dark border) which links it to a kinase (circle with thick border). The colour of the circles corresponds to the number of mutations occurring in the kinase with white being none, and dark blue being a normalized maximum. See figure legend for additional details.

Zooming in/out
If there is a specific PTM you are interested in, you can click on it to zoom onto it and the kinases it has been associated with. Alternatively you can click the magnifying glass icons on the top right of the PTM Interaction Network Visualisation window.

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The Interaction Network image can be saved in an SVG or PDF formats by clicking on the “Save image as” button on the top right of the PTM Interaction Network Visualization window.

Protein summary
The protein summary provides brief information regarding your protein, namely: its full name, a brief description of its function, and genomic location of the coding gene.

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

Usage summary

Network

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PTM site

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Kinases group

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Kinase, PTM site or protein

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External references
RefSeq, Entrez, Uniprot and Enzembl IDs related to your search query.

Mappings retrieved from NCBI & UniProt.
RefSeq
RefSeq IDs relevant to your search query.
Entrez
gene: 1080
UniProt
All links following an Uniprot accession refer to this accession.

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Ensembl