GLE1 - RNA export mediator| Elisa - Clia - Antibody - Protein

Background

GLE1 is a key protein involved in the export of mRNA from the nucleus to the cytoplasm, a critical step in gene expression. This process ensures that genetic information transcribed in the nucleus can be translated into proteins in the cytoplasm. GLE1 is highly conserved across species, reflecting its fundamental role in cellular biology. The protein is encoded by the GLE1 gene, located on chromosome 9q34.1 in humans. Mutations in this gene have been associated with various genetic disorders, underscoring its importance in normal cellular function and development.

Protein Structure

• Molecular Weight: GLE1 has a molecular weight of approximately 75 kDa.
• Domains: The protein contains multiple functional domains, including a GLEBS (GLE1 binding sequence) domain that facilitates interaction with other nucleoporins and RNA export factors.
• Nuclear Localization Signal (NLS): GLE1 contains nuclear localization signals, allowing it to shuttle between the nucleus and the cytoplasm.

Classification and Subtypes

• Family: GLE1 is part of a family of proteins involved in mRNA export and is related to other nuclear export factors.
• Isoforms: Alternative splicing of the GLE1 gene produces different isoforms, which may have distinct functions in RNA processing and export.

Function and Biological Significance

• mRNA Export: GLE1 is crucial for the export of mature mRNA from the nucleus to the cytoplasm, a process essential for protein synthesis.
• Regulation of Translation: Beyond its role in RNA export, GLE1 is involved in the regulation of translation, particularly under conditions of cellular stress.
• Interaction with NPC: GLE1 interacts with components of the nuclear pore complex (NPC) and other RNA-binding proteins to facilitate efficient mRNA export.
• Stress Response: GLE1 plays a role in cellular stress responses, ensuring the proper export and translation of mRNAs under adverse conditions.

Clinical Issues

• LCCS1: Mutations in GLE1 are associated with lethal congenital contracture syndrome 1 (LCCS1), a severe genetic disorder characterized by fetal akinesia and other developmental abnormalities.
• Other Disorders: Variations in GLE1 function or expression have been implicated in other neurodevelopmental and neuromuscular disorders, highlighting its importance in normal human development.

Summary

GLE1 is an essential RNA export mediator that ensures the proper transport of mRNA from the nucleus to the cytoplasm. Its interaction with the nuclear pore complex and other RNA-binding proteins facilitates efficient gene expression. The protein's role in stress response and its involvement in severe genetic disorders underline its critical function in cellular biology. Understanding the mechanisms of GLE1 function can provide insights into the molecular basis of diseases associated with RNA export deficiencies.