EF-hand domains of MCFD2 mediate interactions with both LMAN1 and coagulation factor V or VIII

Blood. 2010 Feb 4;115(5):1081-7. doi: 10.1182/blood-2009-09-241877. Epub 2009 Dec 9.

Abstract

Combined deficiency of factor V and factor VIII (F5F8D) is a bleeding disorder caused by mutations in either LMAN1 or MCFD2. LMAN1 (ERGIC-53) and MCFD2 form a Ca(2+)-dependent cargo receptor that cycles between the endoplasmic reticulum (ER) and the ER-Golgi intermediate compartment for efficient transport of FV/FVIII from the ER to the Golgi. Here we show that the C-terminal EF-hand domains are both necessary and sufficient for MCFD2 to interact with LMAN1. MCFD2 with a deletion of the entire N-terminal non-EF hand region still retains the LMAN1-binding function. Deletions that disrupt core structure of the EF-hand domains abolish LMAN1 binding. Circular dichroism spectroscopy studies on missense mutations localized to different structural elements of the EF-hand domains suggest that Ca(2+)-induced folding is important for LMAN1 interaction. The EF-hand domains also mediate the interaction with FV and FVIII. However, mutations in MCFD2 that disrupt the tertiary structure and abolish LMAN1 binding still retain the FV/FVIII binding activities, suggesting that this interaction is independent of Ca(2+)-induced folding of the protein. Our results suggest that the EF-hand domains of MCFD2 contain separate binding sites for LMAN1 and FV/FVIII that are essential for cargo receptor formation and cargo loading in the ER.

Publication types

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

MeSH terms

  • Amino Acid Sequence
  • Animals
  • COS Cells
  • Calcium / metabolism
  • Chlorocebus aethiops
  • Circular Dichroism
  • EF Hand Motifs*
  • Factor V / genetics
  • Factor V / metabolism*
  • Factor VIII / genetics
  • Factor VIII / metabolism*
  • Humans
  • Immunoprecipitation
  • Mannose-Binding Lectins / genetics
  • Mannose-Binding Lectins / metabolism*
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism*
  • Molecular Sequence Data
  • Mutation, Missense
  • Protein Binding
  • Protein Structure, Tertiary
  • Sequence Deletion
  • Transfection
  • Vesicular Transport Proteins / chemistry
  • Vesicular Transport Proteins / genetics
  • Vesicular Transport Proteins / metabolism*

Substances

  • LMAN1 protein, human
  • MCFD2 protein, human
  • Mannose-Binding Lectins
  • Membrane Proteins
  • Vesicular Transport Proteins
  • Factor V
  • Factor VIII
  • Calcium