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Literature summary for 5.6.1.6 extracted from

  • Wang, X.; Bompadre, S.G.; Li, M.; Hwang, T.C.
    Mutations at the signature sequence of CFTR create a Cd(2+)-gated chloride channel (2009), J. Gen. Physiol., 133, 69-77.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 5.6.1.6

Cloned(Commentary)

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

Protein Variants

Protein Variants Comment Organism
G551A the signature sequence mutant does not show activation of the the CFTR chloride channel activity by Cd2+ in contrast to mutant G551D Homo sapiens
G551C the signature sequence mutant shows activation of the the CFTR chloride channel activity by Cd2+ in contrast to the wild-type enzyme Homo sapiens
G551D the signature sequence mutation completely abrogates the ATP-dependent gating of the CFTR chloride channel and results in a severe phenotype of cystic fibrosis. The mutant shows highly sensitivity to activation by Cd2+ in contrast to the wild-type enzyme Homo sapiens
L548C the signature sequence mutant shows activation of the the CFTR chloride channel activity by Cd2+ in contrast to the wild-type enzyme Homo sapiens
Q552C the mutant does not show activation of the the CFTR chloride channel activity by Cd2+ Homo sapiens
R553C the mutant does not show activation of the the CFTR chloride channel activity by Cd2+ Homo sapiens
S549C the signature sequence mutant shows activation of the the CFTR chloride channel activity by Cd2+ in contrast to the wild-type enzyme Homo sapiens
T547C the mutant does not show activation of the the CFTR chloride channel activity by Cd2+ Homo sapiens

Metals/Ions

Metals/Ions Comment Organism Structure
Cd2+ coordinated by residues G551, S549, and L548. Highly activating the chloride channel activity of CFTR mutant G551D in absence of ATP, but not of wild-type CFTR or mutant G551A Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
additional information
-
 chloride channel activity of wild-type and mutant CFTR proteins, overview Homo sapiens

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
ATP + H2O + closed Cl- channel the Walker A and the Walker B motifs together with the signature sequence LSGGQ form the ATP-binding pocket upon dimerization of the two nucleotide-binding domains in a head-to-tail configuration Homo sapiens ADP + phosphate + open Cl- channel
-
 ?

Synonyms

Synonyms Comment Organism
CFTR
-
 Homo sapiens
cystic fibrosis conductance regulator
-
 Homo sapiens
More the enzyme belongs to the ATP-binding cassette transporter superfamily Homo sapiens