Entry to "formula tunnel" revealed by SLC4A4 human mutation and structural model

J Biol Chem. 2008 Jun 27;283(26):18402-10. doi: 10.1074/jbc.M709819200. Epub 2008 Apr 25.

Abstract

Glaucoma, cataracts, and proximal renal tubular acidosis are diseases caused by point mutations in the human electrogenic Na(+) bicarbonate cotransporter (NBCe1/SLC4A4) (1, 2). One such mutation, R298S, is located in the cytoplasmic N-terminal domain of NBCe1 and has only moderate (75%) function. As SLC transporters have high similarity in their membrane and N-terminal primary sequences, we homology-modeled NBCe1 onto the crystal structure coordinates of Band 3(AE1) (3). Arg-298 is predicted to be located in a solvent-inaccessible subsurface pocket and to associate with Glu-91 or Glu-295 via H-bonding and charge-charge interactions. We perturbed these putative interactions between Glu-91 and Arg-298 by site-directed mutagenesis and used expression in Xenopus oocyte to test our structural model. Mutagenesis of either residue resulted in reduced transport function. Function was "repaired" by charge reversal (E91R/R298E), implying that these two residues are interchangeable and interdependent. These results contrast the current understanding of the AE1 N terminus as protein-binding sites and propose that hkNBCe1 (and other SLC4) cytoplasmic N termini play roles in controlling HCO(3)(-) permeation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Humans
  • Hydrogen-Ion Concentration
  • Molecular Sequence Data
  • Mutagenesis, Site-Directed
  • Mutation*
  • Oocytes / metabolism
  • Point Mutation
  • Protein Conformation
  • Protein Structure, Tertiary
  • Sequence Homology, Amino Acid
  • Sodium-Bicarbonate Symporters / chemistry*
  • Sodium-Bicarbonate Symporters / genetics*
  • Solvents / chemistry
  • Xenopus

Substances

  • SLC4A4 protein, human
  • Sodium-Bicarbonate Symporters
  • Solvents