The IL1RAPL1 gene maps to Xp22.1-p21.3 and contains 11 exons, 10 of which encode for a protein of 696 residues which includes a signal peptide (exon 2), three extracellular immunoglobulin Ig-like domains (exons 3–8), a single transmembrane domain (exon 9), an intracellular Toll/IL-1R (TIR) domain (exons 9–11) and a C-terminal tail of 150 amino acids (exon 11). The C-terminal tail is not shared with other IL-1/Toll receptor family members.
IL1RAPL1 protein is expressed to the excitatory synapses and localized to the postsynaptic membrane and regulates excitatory synapses formation, by interacting with the presynaptic protein PTPdelta, and dendrite development. Abnormalities in IL1RAPL1 functions may alter synaptic communications between neurons in regions underlying cognitive functions.
The majority of the described mutations include large deletions, and it is of particular interest that they mostly involve the first exons that codify for the extracellular domain of IL1RAPL1 protein possibly because this region must be particularly prone to recombination.
IL1RAPL1