Structural assembly of the megadalton-sized receptor for intestinal vitamin B<sub>12</sub> uptake and kidney protein reabsorption.

Larsen, Casper; Etzerodt, Anders; Madsen, Mette; Skjødt, Karsten; Moestrup, Søren Kragh; Andersen, Christian Brix Folsted · Nat Commun · 2018

basic_science · Level V

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Abstract

The endocytic receptor cubam formed by the 460-kDa protein cubilin and the 45-kDa transmembrane protein amnionless (AMN), is essential for intestinal vitamin B<sub>12</sub> (B<sub>12</sub>) uptake and for protein (e.g. albumin) reabsorption from the kidney filtrate. Loss of function of any of the two components ultimately leads to serious B<sub>12</sub> deficiency and urinary protein loss in humans (Imerslund-Gräsbeck's syndrome, IGS). Here, we present the crystal structure of AMN in complex with the amino-terminal region of cubilin, revealing a sophisticated assembly of three cubilin subunits combining into a single intertwined β-helix domain that docks to a corresponding three-faced β-helix domain in AMN. This β-helix-β-helix association thereby anchors three ligand-binding cubilin subunits to the transmembrane AMN. Electron microscopy of full-length cubam reveals a 700-800 Å long tree-like structure with the potential of dimerization into an even larger complex. Furthermore, effects of known human mutations causing IGS are explained by the structural information.

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