IL1RAPL - Interleukin-1 Receptor Accessory Protein-like | Elisa - Clia - Antibody - Protein

Background:

Interleukin-1 Receptor Accessory Protein-like (IL1RAPL) proteins are members of the interleukin-1 receptor (IL-1R) family and share structural similarities with the interleukin-1 receptor accessory protein (IL1RAP). These proteins are encoded by the IL1RAPL1 and IL1RAPL2 genes and are primarily expressed in the central nervous system, particularly in regions associated with cognitive functions and synaptic plasticity. IL1RAPL proteins are involved in the regulation of neuronal signaling and synapse formation. Their roles extend to modulating various intracellular signaling pathways that influence neuronal development and function. Dysregulation or mutations in IL1RAPL proteins have been linked to intellectual disabilities and neurodevelopmental disorders, highlighting their importance in brain development and cognitive processes.

Protein Structure

IL1RAPL proteins have several key structural features:

• Extracellular Domain: Comprising three immunoglobulin-like domains, this region facilitates the interaction with ligands and other receptors.
• Transmembrane Domain: Anchors the protein within the cell membrane.
• Intracellular Domain: Responsible for intracellular signal transduction, containing motifs for phosphorylation and binding sites for adaptor proteins.

Classification and Subtypes

IL1RAPL family members include:

• IL1RAPL1: Predominantly expressed in the brain, particularly in the hippocampus, amygdala, and cortex. It is crucial for synaptic formation and cognitive function.
• IL1RAPL2: Structurally similar to IL1RAPL1 and also expressed in the brain, though its specific functional roles are less well understood.

Function and Biological Significance

IL1RAPL proteins play essential roles in the nervous system, particularly in:

• Synaptic Formation: IL1RAPL1 is critical for the formation and maintenance of synapses, facilitating communication between neurons.
• Neuronal Signaling: These proteins modulate signaling pathways essential for synaptic plasticity, learning, and memory.
• Interaction with Intracellular Molecules: IL1RAPL proteins interact with intracellular signaling molecules, including those in the MAPK pathway, which are involved in cell growth and differentiation.
• Neurodevelopment: They are crucial for proper brain development and the establishment of functional neural networks.

Clinical Issues

Mutations or dysregulation of IL1RAPL proteins are linked to several neurodevelopmental disorders:

• Intellectual Disability: Mutations in IL1RAPL1 are associated with X-linked intellectual disability, characterized by cognitive impairments and developmental delays.
• Autism Spectrum Disorders: Alterations in IL1RAPL1 may contribute to the pathogenesis of autism, affecting synaptic function and neuronal communication.
• Epilepsy: Certain mutations in IL1RAPL1 have been linked to epilepsy, indicating its role in neuronal excitability and synaptic function.

Summary

IL1RAPL (Interleukin-1 Receptor Accessory Protein-like) proteins are crucial components of the interleukin-1 receptor family, primarily expressed in the brain and involved in neurodevelopment and synaptic function. They play significant roles in synaptic formation, neuronal signaling, and cognitive processes. Dysregulation or mutations in IL1RAPL proteins, particularly IL1RAPL1, are associated with neurodevelopmental disorders such as intellectual disability, autism, and epilepsy. Understanding the structure and function of IL1RAPL proteins provides insights into their roles in brain function and their potential as therapeutic targets for related neurological conditions.