Role of the N-terminal transmembrane domain in the endo-lysosomal targeting and function of the human ABCB6 protein

Biochem J. 2015 Apr 1;467(1):127-39. doi: 10.1042/BJ20141085.

Abstract

ATP-binding cassette, subfamily B (ABCB) 6 is a homodimeric ATP-binding cassette (ABC) transporter present in the plasma membrane and in the intracellular organelles. The intracellular localization of ABCB6 has been a matter of debate, as it has been suggested to reside in the mitochondria and the endo-lysosomal system. Using a variety of imaging modalities, including confocal microscopy and EM, we confirm the endo-lysosomal localization of ABCB6 and show that the protein is internalized from the plasma membrane through endocytosis, to be distributed to multivesicular bodies and lysosomes. In addition to the canonical nucleotide-binding domain (NBD) and transmembrane domain (TMD), ABCB6 contains a unique N-terminal TMD (TMD0), which does not show sequence homology to known proteins. We investigated the functional role of these domains through the molecular dissection of ABCB6. We find that the folding, dimerization, membrane insertion and ATP binding/hydrolysis of the core-ABCB6 complex devoid of TMD0 are preserved. However, in contrast with the full-length transporter, the core-ABCB6 construct is retained at the plasma membrane and does not appear in Rab5-positive endosomes. TMD0 is directly targeted to the lysosomes, without passage to the plasma membrane. Collectively, our results reveal that TMD0 represents an independently folding unit, which is dispensable for catalysis, but has a crucial role in the lysosomal targeting of ABCB6.

Publication types

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

MeSH terms

  • ATP-Binding Cassette Transporters / chemistry
  • ATP-Binding Cassette Transporters / genetics
  • ATP-Binding Cassette Transporters / metabolism*
  • Adenosine Triphosphate / metabolism
  • Amino Acid Substitution
  • Cell Membrane / metabolism
  • Cell Membrane / ultrastructure
  • Dimerization
  • Endocytosis*
  • HeLa Cells
  • Humans
  • Hydrolysis
  • K562 Cells
  • Lysosomes / metabolism*
  • Lysosomes / ultrastructure
  • Microscopy, Electron, Transmission
  • Multivesicular Bodies / metabolism*
  • Multivesicular Bodies / ultrastructure
  • Mutant Proteins / chemistry
  • Mutant Proteins / metabolism
  • Peptide Fragments / chemistry
  • Peptide Fragments / genetics
  • Peptide Fragments / metabolism
  • Protein Folding
  • Protein Sorting Signals*
  • Protein Structure, Tertiary
  • Protein Transport
  • Recombinant Fusion Proteins / chemistry
  • Recombinant Fusion Proteins / metabolism

Substances

  • ABCB6 protein, human
  • ATP-Binding Cassette Transporters
  • Mutant Proteins
  • Peptide Fragments
  • Protein Sorting Signals
  • Recombinant Fusion Proteins
  • Adenosine Triphosphate