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Literature summary extracted from

  • Gao, X.; Hwang, T.C.
    Localizing a gate in CFTR (2015), Proc. Natl. Acad. Sci. USA, 112, 2461-2466.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
5.6.1.6 recombinant expression of GFP-tagged wild-type and mutant enzymes in CHO cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
5.6.1.6 F337C site-directed mutagenesis Homo sapiens
5.6.1.6 G1349D site-directed mutagenesis, a mutation associated with the genetic disease cystic fibrosis Homo sapiens
5.6.1.6 G134D/F337C site-directed mutagenesis, increased accessibility of the side chain of 338C in the closed state compared to mutant F337C Homo sapiens
5.6.1.6 G134D/T338C site-directed mutagenesis, limited accessibility of the side chain of 338C in the closed state compared to mutant T338C Homo sapiens
5.6.1.6 additional information open or closed state dependent alterations of the accessibility of the mutated residues for [Au(CN)2]- in presence or absence of ATP, overview. Preferential reactivity of 334C, 335C, and 337C to external [Au(CN)2]- in closed channels Homo sapiens
5.6.1.6 R334C site-directed mutagenesis Homo sapiens
5.6.1.6 T338C site-directed mutagenesis Homo sapiens

Inhibitors

EC Number Inhibitors Comment Organism Structure
5.6.1.6 forskolin abolishes the enzyme activity, which is reversible by DTT Homo sapiens
5.6.1.6 [Au(CN)2]- reversible blocking effect of [Au(CN)2]- on enzyme CFTR Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
5.6.1.6 membrane the enzyme possesses two transmembrane domains, each of which comprises six transmembrane segments Homo sapiens 16020
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
5.6.1.6 ATP + H2O + closed Cl- channel Homo sapiens
-
 ADP + phosphate + open Cl- channel
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
5.6.1.6 Homo sapiens P13569
-
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
5.6.1.6 ATP + H2O + closed Cl- channel
-
 Homo sapiens ADP + phosphate + open Cl- channel
-
 ?

Synonyms

EC Number Synonyms Comment Organism
5.6.1.6 CFTR
-
 Homo sapiens
5.6.1.6 cystic fibrosis transmembrane conductance regulator
-
 Homo sapiens

pH Optimum

EC Number pH Optimum Minimum pH Optimum Maximum Comment Organism
5.6.1.6 7.4
-
 assay at Homo sapiens

General Information

EC Number General Information Comment Organism
5.6.1.6 evolution the enzyme is a bona fide member of the ATP-binding cassette (ABC) transporter superfamily. The presence of a gate in enzyme CFTR at a segment that may also serve as the selectivity filter provides functional duality of a restrictive segment close to the middle of the pore axis distinguishes CFTR from other members of the ABC protein family Homo sapiens
5.6.1.6 malfunction the cystic fibrosis transmembrane conductance regulator (CFTR) malfunction leads to the genetic disease cystic fibrosis Homo sapiens
5.6.1.6 additional information the enzyme is a short narrow tunnel flanked by wider inner and outer vestibules, analysis of the enzyme's pore architecture, overview. Enzyme CFTR bears a gate that is situated between amino acid residues 337 and 344 along transmembrane segment 6, encompassing the very segment that may also serve as the selectivity filter for the enzyme. The gate does not reside in the internal vestibule but is located external to position 344 in the middle of the enzyme's pore Homo sapiens
5.6.1.6 physiological function the enzyme is a phosphorylation-activated but ATP-gated chloride channel involved in the chloride permeation pathway Homo sapiens