Recombinant Human RNA-binding protein 8A (RBM8A)

Uniprot Id

Q9Y5S9

Target Species

Human

Target Name

RBM8A

Target Full Name

RNA-binding protein 8A

Target Function

Required for pre-mRNA splicing as component of the spliceosome. Core component of the splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junctions on mRNAs. 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. Its removal from cytoplasmic mRNAs requires translation initiation from EJC-bearing spliced mRNAs. Associates preferentially with mRNAs produced by splicing. Does not interact with pre-mRNAs, introns, or mRNAs produced from intronless cDNAs. Associates with both nuclear mRNAs and newly exported cytoplasmic mRNAs. The MAGOH-RBM8A heterodimer is a component of the nonsense mediated decay (NMD) pathway. 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.

Target Subcellular Location

Nucleus. Nucleus speckle. Cytoplasm.

Target Protein Families

RBM8A family

Target Tissue Specificity

Ubiquitous.

Target Synonyms

Binder of OVCA1 1; Binder of OVCA1-1; BOV 1; BOV 1A; BOV 1B; BOV 1C; BOV-1; BOV1; BOV1A; BOV1B; BOV1C; HSPC 114; HSPC114; MDS 014; MDS014; RBM 8; RBM 8A; RBM 8B; RBM8; rbm8a; RBM8A_HUMAN; RBM8B; Ribonucleoprotein RBM 8; Ribonucleoprotein RBM 8A; Ribonucleoprotein RBM8; Ribonucleoprotein RBM8A; RNA binding motif protein 8; RNA binding motif protein 8A; RNA binding motif protein 8B; RNA binding protein 8A; RNA binding protein Y14; RNA-binding motif protein 8A; RNA-binding protein 8A; RNA-binding protein Y14; ZNRP; ZRNP 1; ZRNP1

Target Background

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.