MAGOH

Description

The MAGOH (mago homolog, exon junction complex subunit) is a protein-coding gene located on chromosome 1.

The MAGOH gene encodes the mammalian mago nashi homolog, a protein involved in pre-mRNA splicing and other mRNA processing events. Mutations in the Drosophila mago nashi gene lead to defects in germ plasm assembly and germline development. While MAGOH expression is not limited to the germ plasm in mammals, it is found ubiquitously in adult tissues and can be induced by serum stimulation of quiescent fibroblasts. MAGOH interacts with RBM8A and NXF1, and forms a complex with Tsunagi/Y14 and Ranshi in Drosophila.

MAGOH is essential for pre-mRNA splicing as a component of the spliceosome. It plays a redundant role with MAGOHB as a core component of the exon junction complex (EJC) and in the nonsense-mediated decay (NMD) pathway. The EJC is a dynamic structure composed of core proteins and peripheral nuclear and cytoplasmic factors that transiently associate during EJC assembly or mRNA metabolism. The EJC marks exon-exon junctions in mature mRNA, guiding gene expression machinery. The EJC‘s core components remain bound to spliced mRNAs throughout their metabolism, influencing nuclear mRNA export, subcellular localization, translation efficiency, and NMD. The MAGOH-RBM8A heterodimer inhibits EIF4A3‘s ATPase activity, stabilizing the ATP-bound EJC core on spliced mRNA. This heterodimer also interacts with PYM1, a key EJC regulator, leading to EJC disassembly in the cytoplasm and enhancing translation of EJC-bearing mRNAs by recruiting them to the 48S preinitiation complex. MAGOH is involved in splicing modulation of BCL2L1/Bcl-X (and potentially other apoptotic genes), specifically inhibiting the formation of proapoptotic isoforms like Bcl-X(S), distinct from its established EJC assembly function.

MAGOH is also known as MAGOH1, MAGOHA.

Associated Diseases

WES Whole Exome Sequencing