Q9Y5S9 · RBM8A_HUMAN
- ProteinRNA-binding protein 8A
- GeneRBM8A
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids174 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
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
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
GO annotations
Aspect | Term | |
---|---|---|
Cellular Component | catalytic step 2 spliceosome | |
Cellular Component | cytoplasm | |
Cellular Component | cytosol | |
Cellular Component | dendrite | |
Cellular Component | exon-exon junction complex | |
Cellular Component | exon-exon junction subcomplex mago-y14 | |
Cellular Component | neuronal cell body | |
Cellular Component | nuclear speck | |
Cellular Component | nucleoplasm | |
Cellular Component | nucleus | |
Cellular Component | U2-type catalytic step 1 spliceosome | |
Molecular Function | mRNA binding | |
Molecular Function | RNA binding | |
Biological Process | mRNA export from nucleus | |
Biological Process | mRNA splicing, via spliceosome | |
Biological Process | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | |
Biological Process | regulation of alternative mRNA splicing, via spliceosome | |
Biological Process | regulation of mRNA processing | |
Biological Process | regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | |
Biological Process | regulation of translation | |
Biological Process | RNA splicing |
Keywords
- Molecular function
- Biological process
Enzyme and pathway databases
Protein family/group databases
Names & Taxonomy
Protein names
- Recommended nameRNA-binding protein 8A
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9Y5S9
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
UniProt Annotation
GO Annotation
Keywords
- Cellular component
Disease & Variants
Involvement in disease
Thrombocytopenia-absent radius syndrome (TAR)
- Note
- DescriptionAn autosomal recessive disorder characterized by bilateral absence of the radii with the presence of both thumbs, thrombocytopenia, low numbers of megakaryocytes, and bleeding episodes in the first year of life. Thrombocytopenic episodes decrease with age. Skeletal anomalies range from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee.
- See alsoMIM:274000
Features
Showing features for mutagenesis.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Mutagenesis | 82-83 | Impaired nonsense-mediated decay activity. | ||||
Sequence: EE → RR | ||||||
Mutagenesis | 106-108 | Complete loss of nonsense-mediated decay activity. | ||||
Sequence: LDR → RDE | ||||||
Mutagenesis | 118 | Complete loss of nonsense-mediated decay activity. | ||||
Sequence: L → R | ||||||
Mutagenesis | 149-150 | Complete loss of nonsense-mediated decay activity. | ||||
Sequence: CF → KA |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 170 variants from UniProt as well as other sources including ClinVar and dbSNP.
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for initiator methionine, modified residue, chain, modified residue (large scale data), cross-link.
Type | ID | Position(s) | Source | Description | |||
---|---|---|---|---|---|---|---|
Initiator methionine | 1 | UniProt | Removed | ||||
Sequence: M | |||||||
Modified residue | 2 | UniProt | N-acetylalanine | ||||
Sequence: A | |||||||
Chain | PRO_0000081763 | 2-174 | UniProt | RNA-binding protein 8A | |||
Sequence: ADVLDLHEAGGEDFAMDEDGDESIHKLKEKAKKRKGRGFGSEEGSRARMREDYDSVEQDGDEPGPQRSVEGWILFVTGVHEEATEEDIHDKFAEYGEIKNIHLNLDRRTGYLKGYTLVEYETYKEAQAAMEGLNGQDLMGQPISVDWCFVRGPPKGKRRGGRRRSRSPDRRRR | |||||||
Modified residue | 24 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 24 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Cross-link | 27 | UniProt | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2) | ||||
Sequence: K | |||||||
Modified residue | 42 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 42 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 46 | PRIDE | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 54 | PRIDE | Phosphotyrosine | ||||
Sequence: Y | |||||||
Modified residue | 56 | UniProt | Phosphoserine | ||||
Sequence: S | |||||||
Modified residue (large scale data) | 56 | PRIDE | Phosphoserine | ||||
Sequence: S |
Keywords
- PTM
Proteomic databases
PTM databases
Expression
Tissue specificity
Ubiquitous.
Gene expression databases
Organism-specific databases
Interaction
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).
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).
Binary interactions
Type | Entry 1 | Entry 2 | Number of experiments | Intact | |
---|---|---|---|---|---|
BINARY | Q9Y5S9 | EIF4A3 P38919 | 22 | EBI-447231, EBI-299104 | |
BINARY | Q9Y5S9 | MAGOH P61326 | 43 | EBI-447231, EBI-299134 | |
BINARY | Q9Y5S9 | MAGOHB Q96A72 | 13 | EBI-447231, EBI-746778 | |
BINARY | Q9Y5S9 | SRPK1 Q96SB4 | 3 | EBI-447231, EBI-539478 | |
BINARY | Q9Y5S9 | SRPK2 P78362 | 2 | EBI-447231, EBI-593303 | |
BINARY | Q9Y5S9 | TCF12 Q99081-3 | 3 | EBI-447231, EBI-11952764 | |
BINARY | Q9Y5S9 | THRAP3 Q9Y2W1 | 2 | EBI-447231, EBI-352039 | |
BINARY | Q9Y5S9 | UPF3A Q9H1J1 | 4 | EBI-447231, EBI-521530 | |
BINARY | Q9Y5S9 | UPF3B Q9BZI7 | 9 | EBI-447231, EBI-372780 | |
BINARY | Q9Y5S9-1 | MAGOH P61326 | 7 | EBI-5773674, EBI-299134 |
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for compositional bias, region, domain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-29 | Basic and acidic residues | ||||
Sequence: MADVLDLHEAGGEDFAMDEDGDESIHKLK | ||||||
Region | 1-70 | Disordered | ||||
Sequence: MADVLDLHEAGGEDFAMDEDGDESIHKLKEKAKKRKGRGFGSEEGSRARMREDYDSVEQDGDEPGPQRSV | ||||||
Compositional bias | 36-65 | Basic and acidic residues | ||||
Sequence: KGRGFGSEEGSRARMREDYDSVEQDGDEPG | ||||||
Domain | 73-151 | RRM | ||||
Sequence: WILFVTGVHEEATEEDIHDKFAEYGEIKNIHLNLDRRTGYLKGYTLVEYETYKEAQAAMEGLNGQDLMGQPISVDWCFV | ||||||
Region | 151-174 | Disordered | ||||
Sequence: VRGPPKGKRRGGRRRSRSPDRRRR | ||||||
Compositional bias | 156-174 | Basic residues | ||||
Sequence: KGKRRGGRRRSRSPDRRRR |
Sequence similarities
Belongs to the RBM8A family.
Phylogenomic databases
Family and domain databases
Sequence & Isoform
- Sequence statusComplete
This entry describes 2 isoforms produced by Alternative splicing.
Q9Y5S9-1
This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
- Name1
- SynonymsBOV-1a
- Length174
- Mass (Da)19,889
- Last updated1999-11-01 v1
- Checksum70BBD03CDDFEECFE
Q9Y5S9-2
- Name2
- SynonymsBOV-1b
- Differences from canonical
- 44-44: Missing
Sequence caution
Features
Showing features for compositional bias, alternative sequence, sequence conflict.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Compositional bias | 1-29 | Basic and acidic residues | ||||
Sequence: MADVLDLHEAGGEDFAMDEDGDESIHKLK | ||||||
Compositional bias | 36-65 | Basic and acidic residues | ||||
Sequence: KGRGFGSEEGSRARMREDYDSVEQDGDEPG | ||||||
Alternative sequence | VSP_005810 | 44 | in isoform 2 | |||
Sequence: Missing | ||||||
Sequence conflict | 130 | in Ref. 8; CAG46622 | ||||
Sequence: A → V | ||||||
Compositional bias | 156-174 | Basic residues | ||||
Sequence: KGKRRGGRRRSRSPDRRRR |
Keywords
- Coding sequence diversity
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AF127761 EMBL· GenBank· DDBJ | AAD21089.1 EMBL· GenBank· DDBJ | mRNA | ||
AF198620 EMBL· GenBank· DDBJ | AAF37551.1 EMBL· GenBank· DDBJ | mRNA | ||
AF231511 EMBL· GenBank· DDBJ | AAG16781.1 EMBL· GenBank· DDBJ | mRNA | ||
AF231512 EMBL· GenBank· DDBJ | AAG16782.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AF299118 EMBL· GenBank· DDBJ | AAG27091.1 EMBL· GenBank· DDBJ | mRNA | ||
AF403012 EMBL· GenBank· DDBJ | AAL26999.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
AF182415 EMBL· GenBank· DDBJ | AAG14951.1 EMBL· GenBank· DDBJ | mRNA | Different initiation | |
AF161463 EMBL· GenBank· DDBJ | AAF29078.1 EMBL· GenBank· DDBJ | mRNA | ||
CR541823 EMBL· GenBank· DDBJ | CAG46622.1 EMBL· GenBank· DDBJ | mRNA | ||
CR541805 EMBL· GenBank· DDBJ | CAG46604.1 EMBL· GenBank· DDBJ | mRNA | ||
AK075009 EMBL· GenBank· DDBJ | BAG52051.1 EMBL· GenBank· DDBJ | mRNA | ||
AL160282 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
CH471244 EMBL· GenBank· DDBJ | EAW71419.1 EMBL· GenBank· DDBJ | Genomic DNA | ||
BC017088 EMBL· GenBank· DDBJ | AAH17088.1 EMBL· GenBank· DDBJ | mRNA |