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Details on Person UniProt:Q9Y5S9-1 RBM8A

Class:IdReferenceIsoform:416092
_chainChangeLoginitiator methionine:1 added on Fri February 6 2015;chain:2-174 added on Fri February 6 2015;initiator methionine:1 for 416092 removed on Fri Nov 03 2023;initiator methionine: for 416092 added on Fri Nov 03 2023;initiator methionine: for 416092 removed on Fri Aug 15 2025;initiator methionine:1 for 416092 added on Fri Aug 15 2025
_displayNameUniProt:Q9Y5S9-1 RBM8A
_timestamp2026-02-20 22:59:08
chaininitiator methionine:1
chain:2-174
checksum70BBD03CDDFEECFE
commentFUNCTION Required for pre-mRNA splicing as component of the spliceosome (PubMed:28502770, PubMed:29301961). 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.SUBUNIT Heterodimer with either MAGOH or MAGOHB (PubMed:10662555, PubMed:12730685, PubMed:12781131, PubMed:23917022). 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:16923391, PubMed:16931718, PubMed:19033377, PubMed:20479275, PubMed:23917022). Component of the ALYREF/THOC4-EJC-RNA complex; in the complex interacts with EIF4A3 and MAGOH; these interactions are likely specific to RNA-bound EJC (PubMed:16314458, PubMed:37020021). 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).SUBCELLULAR LOCATION Nucleocytoplasmic shuttling protein (PubMed:11030346). Travels to the cytoplasm as part of the exon junction complex (EJC) bound to mRNA. Colocalizes with the core EJC, ALYREF/THOC4, NXF1 and UAP56 in the nucleus and nuclear speckles (PubMed:19324961).ALTERNATIVE PRODUCTS Ubiquitous.DISEASE The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the RBM8A family.SEQUENCE CAUTION Chimeric cDNA. A chimeric cDNA originating from chromosomes 1 and 5.
created[InstanceEdit:400710] Schmidt, EE, 2009-03-25 05:33:35
descriptionrecommendedName: RNA-binding protein 8A alternativeName: Binder of OVCA1-1 shortName: BOV-1 alternativeName: RNA-binding motif protein 8A alternativeName: fullName evidence="37"RNA-binding protein Y14 alternativeName: Ribonucleoprotein RBM8A
geneNameRBM8A
RBM8
HSPC114
MDS014
identifierQ9Y5S9
isoformParent
isSequenceChangedFALSE
keyword3D-structure
Acetylation
Alternative splicing
Cytoplasm
Isopeptide bond
mRNA processing
mRNA splicing
mRNA transport
Nonsense-mediated mRNA decay
Nucleus
Phosphoprotein
Proteomics identification
Reference proteome
RNA-binding
Spliceosome
Translation regulation
Transport
Ubl conjugation
modified[InstanceEdit:9836292] Weiser, Joel, 2023-05-25
[InstanceEdit:9852000] Weiser, Joel, 2023-11-03
[InstanceEdit:9917590] Weiser, Joel, 2024-08-09
[InstanceEdit:9926675] Weiser, Joel, 2024-11-03
[InstanceEdit:9963647] Weiser, Joel, 2025-08-15
[InstanceEdit:9983091] Weiser, Joel, 2026-02-20
nameRBM8A
referenceDatabase[ReferenceDatabase:2] UniProt
referenceGene[ReferenceDNASequence:9003758] ENSEMBL:ENSG00000265241 RBM8A [Homo sapiens]
secondaryIdentifierRBM8A_HUMAN
B3KQI9
Q6FHD1
Q6IQ40
Q9GZX8
Q9NZI4
sequenceLength174
species[Species:48887] Homo sapiens
variantIdentifierQ9Y5S9-1
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