Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor

Cell. 1998 Apr 3;93(1):111-23. doi: 10.1016/s0092-8674(00)81151-4.

Abstract

HFE is an MHC-related protein that is mutated in the iron-overload disease hereditary hemochromatosis. HFE binds to transferrin receptor (TfR) and reduces its affinity for iron-loaded transferrin, implicating HFE in iron metabolism. The 2.6 A crystal structure of HFE reveals the locations of hemochromatosis mutations and a patch of histidines that could be involved in pH-dependent interactions. We also demonstrate that soluble TfR and HFE bind tightly at the basic pH of the cell surface, but not at the acidic pH of intracellular vesicles. TfR:HFE stoichiometry (2:1) differs from TfR:transferrin stoichiometry (2:2), implying a different mode of binding for HFE and transferrin to TfR, consistent with our demonstration that HFE, transferrin, and TfR form a ternary complex.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Binding Sites
  • Cell Membrane / metabolism
  • Crystallography, X-Ray / methods
  • HLA Antigens / chemistry*
  • HLA Antigens / genetics
  • HLA Antigens / metabolism*
  • Hemochromatosis / genetics
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / chemistry*
  • Histocompatibility Antigens Class I / genetics
  • Histocompatibility Antigens Class I / metabolism*
  • Humans
  • Hydrogen-Ion Concentration
  • Kinetics
  • Membrane Proteins*
  • Models, Molecular
  • Protein Structure, Secondary*
  • Receptors, Transferrin / chemistry
  • Receptors, Transferrin / metabolism*

Substances

  • HFE protein, human
  • HLA Antigens
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Receptors, Transferrin