Literature summary for 5.6.1.6 extracted from

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

Search for more literature for 5.6.1.6

Cloned(Commentary)

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

Protein Variants

Protein Variants	Comment	Organism
F337C	site-directed mutagenesis	Homo sapiens
G1349D	site-directed mutagenesis, a mutation associated with the genetic disease cystic fibrosis	Homo sapiens
G134D/F337C	site-directed mutagenesis, increased accessibility of the side chain of 338C in the closed state compared to mutant F337C	Homo sapiens
G134D/T338C	site-directed mutagenesis, limited accessibility of the side chain of 338C in the closed state compared to mutant T338C	Homo sapiens
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
R334C	site-directed mutagenesis	Homo sapiens
T338C	site-directed mutagenesis	Homo sapiens

Inhibitors

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

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
membrane	the enzyme possesses two transmembrane domains, each of which comprises six transmembrane segments	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	-	-

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	-	?

Synonyms

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

pH Optimum

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

General Information

General Information	Comment	Organism
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
malfunction	the cystic fibrosis transmembrane conductance regulator (CFTR) malfunction leads to the genetic disease cystic fibrosis	Homo sapiens
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
physiological function	the enzyme is a phosphorylation-activated but ATP-gated chloride channel involved in the chloride permeation pathway	Homo sapiens

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Release 2023.1 (January 2023)