title: X-ray diffraction studies on merohedrally twinned Δ1-62NtNBCe1-A crystals of the sodium/bicarbonate cotransporter.
abstract: NBCe1-A membrane-embedded macromolecules that cotransport sodium and bicarbonate ions across the bilayer serve to maintain acid-base homeostasis throughout the body. Defects result in a number of renal and eye disorders, including type-II renal tubular acidosis and cataracts. Here, crystals of a human truncated mutant of the cytoplasmic N-terminal domain of NBCe1 (Δ1-62NtNBCe1-A) are reported that diffract X-rays to 2.4 Å resolution. The crystal symmetry of Δ1-62NtNBCe1-A is of space group P31 with pseudo-P3121 symmetry and it has a hemihedral twin fraction of 33.0%. The crystals may provide insight into the pathogenic processes observed in a subset of patients with truncating and point mutations in the gene encoding NBCe1.
authors.affiliation: Department of Medicine, The George Washington University, Washington, DC 20052, USA. hgill@gwu.edu
authors.forename: Harindarpal S
authors.initials: HS
authors.lastname: Gill
authors.forename: Lauren
authors.initials: L
authors.lastname: Dutcher
authors.forename: Walter F
authors.initials: WF
authors.lastname: Boron
authors.forename: Samir
authors.initials: S
authors.lastname: Patel
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Guay-Woodford
mesh_terms: D016880:Anisotropy; D001639:Bicarbonates / Q000378:metabolism*; D003460:Crystallization; D006801:Humans; D050505:Mutant Proteins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism; D009154:Mutation / Q000235:genetics; D017434:Protein Structure, Tertiary; D011994:Recombinant Proteins / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism; D017384:Sequence Deletion; D012964:Sodium / Q000378:metabolism*; D027982:Sodium-Bicarbonate Symporters / Q000737:chemistry* / Q000235:genetics / Q000378:metabolism; D014961:X-Ray Diffraction
chemical_list: D001639:Bicarbonates; D050505:Mutant Proteins; D011994:Recombinant Proteins; C498898:SLC4A4 protein, human; D027982:Sodium-Bicarbonate Symporters; D012964:Sodium
keywords: NBCe1; bicarbonate transport