Aliases for MAGOH Gene
- Mago Homolog, Exon Junction Complex Subunit 2 3 5
- Mago Homolog, Exon Junction Complex Core Component 2 3
- Protein Mago Nashi Homolog 3 4
- MAGOHA 3 4
- Mago-Nashi (Drosophila) Homolog, Proliferation-Associated 2
- Mago-Nashi Homolog, Proliferation-Associated (Drosophila) 2
- Mago-Nashi Homolog, Proliferation-Associated 3
- MAGOH1 3
External Ids for MAGOH Gene
Previous GeneCards Identifiers for MAGOH Gene
Drosophila that have mutations in their mago nashi (grandchildless) gene produce progeny with defects in germplasm assembly and germline development. This gene encodes the mammalian mago nashi homolog. In mammals, mRNA expression is not limited to the germ plasm, but is expressed ubiquitously in adult tissues and can be induced by serum stimulation of quiescent fibroblasts. [provided by RefSeq, Jul 2008]
GeneCards Summary for MAGOH Gene
MAGOH (Mago Homolog, Exon Junction Complex Subunit) is a Protein Coding gene. Diseases associated with MAGOH include Metaphyseal Chondrodysplasia, Schmid Type and Primary Autosomal Recessive Microcephaly. Among its related pathways are Gene Expression and Transport of Mature Transcript to Cytoplasm. An important paralog of this gene is MAGOHB.
UniProtKB/Swiss-Prot Summary for MAGOH Gene
Required for pre-mRNA splicing as component of the spliceosome (PubMed:11991638). Plays a redundant role with MAGOHB as core component of the exon junction complex (EJC) and in the nonsense-mediated decay (NMD) pathway (PubMed:23917022). The EJC is a dynamic structure consisting of core proteins and several peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. The EJC marks the position of the exon-exon junction in the mature mRNA for the gene expression machinery and the core components remain bound to spliced mRNAs throughout all stages of mRNA metabolism thereby influencing downstream processes including nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). The MAGOH-RBM8A heterodimer inhibits the ATPase activity of EIF4A3, thereby trapping the ATP-bound EJC core onto spliced mRNA in a stable conformation. The MAGOH-RBM8A heterodimer interacts with the EJC key regulator PYM1 leading to EJC disassembly in the cytoplasm and translation enhancement of EJC-bearing spliced mRNAs by recruiting them to the ribosomal 48S preinitiation complex. Involved in the splicing modulation of BCL2L1/Bcl-X (and probably other apoptotic genes); specifically inhibits formation of proapoptotic isoforms such as Bcl-X(S); the function is different from the established EJC assembly.