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Literature summary for 5.6.1.6 extracted from
- Role of ATP binding and hydrolysis in the gating of the cystic fibrosis transmembrane conductance regulator (2012), Ann. Thorac. Med., 7, 115-121.
Cloned(Commentary)
| Cloned (Comment) | Organism |
|---|---|
| the CFTR gene is located on chromosome 7q31.31 | Homo sapiens |
Localization
| Localization | Comment | Organism | GeneOntology No. | Textmining |
|---|---|---|---|---|
| membrane | - |
Homo sapiens | 16020 | - |
Natural Substrates/ Products (Substrates)
| Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| ATP + H2O + closed Cl- channel | Homo sapiens | - |
ADP + phosphate + open Cl- channel | - |
? |  |
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | P13569 | - |
- |
Reaction
| Reaction | Comment | Organism | Reaction ID |
|---|---|---|---|
| ATP + H2O + closed Cl- channel = ADP + phosphate + open Cl- channel | regulation of CFTR activation by R domain phosphorylation followed by ATP binding at the nucleotide-binding domain-1 site enables the cycling mechanism to proceed. ATP catalysis at the catalytically active nucleotide?binding domain-2 is sufficient to drive the gating cycle, CFTR gating mechanism proceeds in 4 steps, detailed overview. The enzyme being a functional channel adapts the ATP switch gating mechanism designed for transporters, ATP Switch model analysis | Homo sapiens |
Source Tissue
| Source Tissue | Comment | Organism | Textmining |
|---|---|---|---|
| gastrointestinal tract | - |
Homo sapiens | - |
| liver | - |
Homo sapiens | - |
| pancreas | - |
Homo sapiens | - |
| reproductive system | - |
Homo sapiens | - |
| sweat gland | - |
Homo sapiens | - |
Substrates and Products (Substrate)
| Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
|---|---|---|---|---|---|---|
| ATP + H2O + closed Cl- channel | - |
Homo sapiens | ADP + phosphate + open Cl- channel | - |
? | |
Subunits
| Subunits | Comment | Organism |
|---|---|---|
| More | enzyme domain structure consisting of two transmembrane domains, two nucleotide?binding domains, and one regulatory domain, overview. Head-to-tail arrangement of the nucleotide-binding domain dimer | Homo sapiens |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| CFTR | - |
Homo sapiens |
| cystic fibrosis transmembrane conductance regulator | - |
Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| evolution | the enzyme belongs to the ATP-binding cassette (ABC) protein superfamily, ABCC subfamily, contains mainly transporters responsible for a range of functions from nutrient uptake to toxin export and these proteins are found in all organisms ranging from bacteria to mammals. The CFTR gene is unique within the ATP-binding cassette (ABC) protein family, predominantly of transporters, by coding a chloride channel | Homo sapiens |
| malfunction | a dysfunctional CFTR protein, e.g. by loss-of-function mutation, results in cystic fibrosis, a fatal pleiotropic disease, more than 1000 known mutations of this chloride channel result in a range of disease states. Cystic fibrosis is a Mendelian autosomal recessive disease of the young, due to its lethal nature in the early years of life, and affects roughly one in 2500 newborns with a total of 70000 people worldwide, pathophysiology, overview | Homo sapiens |
| additional information | enzyme structure-function analysis, detailed overview. The unique R domain is essential to the regulation of the channel and needs to be phosphorylated by PKA to facilitate the gating cycle, domain structure | Homo sapiens |
| physiological function | CFTR is a functional chloride channel facilitating transmembrane anion flow down electrochemical gradients | Homo sapiens |
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Release 2023.1 (January 2023)
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