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RBM8A

This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome.
Protein class

Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Transporters

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Syncytiotrophoblasts)

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Heterodimer with either MAGOH or MAGOHB (PubMed:10662555, PubMed:12730685, PubMed:23917022, PubMed:12781131). Part of the mRNA splicing-dependent exon junction complex (EJC) complex; the core complex contains CASC3, EIF4A3, MAGOH or MAGOHB, and RBM8A (PubMed:11707413, PubMed:16170325, PubMed:16314458, PubMed:23917022, PubMed:16923391, PubMed:16931718, PubMed:19033377, PubMed:20479275). Interacts with PYM1; the interaction is direct and dissociates the EJC from spliced mRNAs (PubMed:14968132, PubMed:18026120, PubMed:19410547). Part of a complex that contains the EJC core components CASC3, EIF4A3, MAGOH and RBM8A plus proteins involved in nonsense-mediated mRNA decay, such as UPF1, UPF2, UPF3A and UPF3B (PubMed:11546873, PubMed:12718880, PubMed:20479275). Found in a post-splicing complex with NXF1, MAGOH, UPF1, UPF2, UPF3A, UPF3B and RNPS1 (PubMed:11546874). Interacts with DDX39B, MAGOH, DPH1, UPF3B, RNPS1, SRRM1 and ALYREF/THOC4 (PubMed:11013075, PubMed:11118221, PubMed:11707413, PubMed:12944400). Interacts with IPO13; the interaction mediates the nuclear import of the MAGOH-RBM8A heterodimer (PubMed:11447110). Identified in the spliceosome C complex (PubMed:11991638, PubMed:28502770, PubMed:29301961). Associates with polysomes (PubMed:12121612).

Molecular function

RNA-binding

More Types Infomation

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