Molecular cloning and characterization of Atp6v1b1, the murine vacuolar H+ -ATPase B1-subunit

Gene. 2003 Oct 30:318:25-34. doi: 10.1016/s0378-1119(03)00790-x.

Abstract

The multisubunit vacuolar-type proton-translocating ATPases (H(+)-ATPases) mediate the acidification of various intracellular organelles. In a subset of tissues, they also mediate H(+) secretion at the plasma membrane. Two isoforms of the H(+)-ATPase B-subunit exist in humans; we have shown that mutations in ATP6V1B1, encoding the B1-isoform, cause the clinical condition distal renal tubular acidosis. Here we report the cloning and characterization of murine Atp6v1b1, which encodes a 513-amino acid (aa) protein with 93% identity to human ATP6V1B1. Genomic organization is conserved between the murine and human H(+)-ATPase B1-subunits, and Atp6v1b1 maps to a region of mouse chromosome 6 syntenic to human 2p13, the location of ATP6V1B1. Northern blotting detects a 2.2-kb Atp6v1b1 transcript in the kidney and testis, but not other major organs. In mouse kidney, the B1-subunit localizes to intercalated cells of the cortical and medullary collecting duct. B1 protein levels were not increased in either mouse renal cortex or medulla after either 2 or 7 days of oral acid loading. These results demonstrate that Atp6v1b1 encodes the murine ortholog of human ATP6V1B1 and provides a tool for future development of animal models based on manipulation of the Atp6v1b1 genomic locus.

Publication types

  • Comparative Study

MeSH terms

  • 5' Flanking Region / genetics
  • Amino Acid Sequence
  • Animals
  • Antibody Specificity
  • Base Sequence
  • Cloning, Molecular
  • DNA / chemistry
  • DNA / genetics
  • DNA, Complementary / chemistry
  • DNA, Complementary / genetics
  • Epididymis / enzymology
  • Gene Expression Regulation, Enzymologic
  • Humans
  • Immune Sera / immunology
  • Immunohistochemistry
  • Isoenzymes / genetics
  • Isoenzymes / metabolism
  • Kidney / enzymology
  • Male
  • Mice
  • Mice, Inbred Strains
  • Molecular Sequence Data
  • Phylogeny
  • Protein Subunits / genetics
  • Protein Subunits / immunology
  • Protein Subunits / metabolism
  • RNA, Messenger / genetics
  • RNA, Messenger / metabolism
  • Sequence Alignment
  • Sequence Analysis, DNA
  • Sequence Homology, Amino Acid
  • Sequence Homology, Nucleic Acid
  • Vacuolar Proton-Translocating ATPases / genetics*
  • Vacuolar Proton-Translocating ATPases / metabolism

Substances

  • DNA, Complementary
  • Immune Sera
  • Isoenzymes
  • Protein Subunits
  • RNA, Messenger
  • DNA
  • Atp6v1b1 protein, mouse
  • Vacuolar Proton-Translocating ATPases