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Literature summary 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

Cloned(Commentary)

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

Protein Variants

EC Number Protein Variants Comment Organism
5.6.1.6 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
5.6.1.6 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
5.6.1.6 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
5.6.1.6 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
5.6.1.6 Q552C the mutant does not show activation of the the CFTR chloride channel activity by Cd2+ Homo sapiens
5.6.1.6 R553C the mutant does not show activation of the the CFTR chloride channel activity by Cd2+ Homo sapiens
5.6.1.6 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
5.6.1.6 T547C the mutant does not show activation of the the CFTR chloride channel activity by Cd2+ Homo sapiens

Metals/Ions

EC Number Metals/Ions Comment Organism Structure
5.6.1.6 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

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

Specific Activity [micromol/min/mg]

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

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
5.6.1.6 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

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