Stability and ATP binding of the nucleotide-binding domain of the Wilson disease protein: effect of the common H1069Q mutation

J Mol Biol. 2008 Nov 28;383(5):1097-111. doi: 10.1016/j.jmb.2008.07.065. Epub 2008 Jul 29.

Abstract

Perturbation of the human copper-transporter Wilson disease protein (ATP7B) causes intracellular copper accumulation and severe pathology, known as Wilson disease (WD). Several WD mutations are clustered within the nucleotide-binding subdomain (N-domain), including the most common mutation, H1069Q. To gain insight into the biophysical behavior of the N-domain under normal and disease conditions, we have characterized wild-type and H1069Q recombinant N-domains in vitro and in silico. The mutant has only twofold lower ATP affinity compared to that of the wild-type N-domain. Both proteins unfold in an apparent two-state reaction at 20 degrees C and ATP stabilizes the folded state. The thermal unfolding reactions are irreversible and, for the same scan rate, the wild-type protein is more resistant to perturbation than the mutant. For both proteins, ATP increases the activation barrier towards thermal denaturation. Molecular dynamics simulations identify specific differences in both ATP orientation and protein structure that can explain the absence of catalytic activity for the mutant N-domain. Taken together, our results provide biophysical characteristics that may be general to N-domains in other P(1B)-ATPases as well as identify changes that may be responsible for the H1069Q WD phenotype in vivo.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adenosine Triphosphatases / chemistry*
  • Adenosine Triphosphatases / genetics
  • Adenosine Triphosphatases / metabolism*
  • Adenosine Triphosphate / metabolism*
  • Adenosine Triphosphate / pharmacology
  • Amino Acid Substitution* / drug effects
  • Apoenzymes / chemistry
  • Calorimetry, Differential Scanning
  • Cation Transport Proteins / chemistry*
  • Cation Transport Proteins / genetics
  • Cation Transport Proteins / metabolism*
  • Computational Biology
  • Computer Simulation
  • Copper-Transporting ATPases
  • Glutamine / genetics
  • Histidine / genetics
  • Holoenzymes / chemistry
  • Humans
  • Kinetics
  • Models, Molecular
  • Mutant Proteins / chemistry
  • Mutation / genetics*
  • Nucleotides / metabolism*
  • Protein Folding
  • Protein Structure, Tertiary
  • Temperature
  • Thermodynamics
  • Tryptophan

Substances

  • Apoenzymes
  • Cation Transport Proteins
  • Holoenzymes
  • Mutant Proteins
  • Nucleotides
  • Glutamine
  • Histidine
  • Tryptophan
  • Adenosine Triphosphate
  • Adenosine Triphosphatases
  • ATP7B protein, human
  • Copper-Transporting ATPases