The UMD- mutations database
The protein


The human MEN1 gene consists of 10 exons that span more than 9 kb of genomic DNA and encodes a 610 amino acid protein. The start (ATG) and stop (TGA) codons are localized in exons 2 and 10 respectively, exon 1, the 5’ part of exon 2, and the 3' part of exon10 are untranslated (1, 2)


Figure1: 3D-Visualization of MENIN protein

The function of the menin protein remains unclear. Two types of functional domains are described: Nuclear Localization Sequences (NLS) and the menin domain. No mutational hot spots have been defined and all the protein domains are affected. MENIN interacts with various partners. Mutations affecting the interacting domain  of MEN1 could interfere with and abolish interactions with functional partners.


Figure 2: Schematic representation of the genomic organization of the MEN1 gene  (Thevenon and al, 2013). 5' and 3' segmentation of the gene product distinguishes 2 equivalent parts from exons 2 and 3 versus exons 8 to 10 respectively. B) The distribution of mutation types is represented showing truncating mutations (black boxes) and non- truncating mutations (open boxes). C) The MENIN interacting partners are positioned (adapted from Lemos et al., 2008)

To facilitate graphical display annotation of protein domains interacting with various proteins, the following abbreviation are used: