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Protein

RNA-binding protein 8A

Gene

RBM8A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.6 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionRNA-binding
Biological processmRNA processing, mRNA splicing, mRNA transport, Nonsense-mediated mRNA decay, Translation regulation, Transport

Enzyme and pathway databases

ReactomeiR-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72187 mRNA 3'-end processing
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
SIGNORiQ9Y5S9

Protein family/group databases

TCDBi3.A.18.1.1 the nuclear mrna exporter (mrna-e) family

Names & Taxonomyi

Protein namesi
Recommended name:
RNA-binding protein 8A
Alternative name(s):
Binder of OVCA1-1
Short name:
BOV-1
RNA-binding motif protein 8A
RNA-binding protein Y14
Ribonucleoprotein RBM8A
Gene namesi
Name:RBM8A
Synonyms:RBM8
ORF Names:HSPC114, MDS014
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000265241.6
HGNCiHGNC:9905 RBM8A
MIMi605313 gene
neXtProtiNX_Q9Y5S9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus, Spliceosome

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi82 – 83EE → RR: Impaired nonsense-mediated decay activity. 1 Publication2
Mutagenesisi106 – 108LDR → RDE: Complete loss of nonsense-mediated decay activity. 1 Publication3
Mutagenesisi118L → R: Complete loss of nonsense-mediated decay activity. 1 Publication1
Mutagenesisi149 – 150CF → KA: Complete loss of nonsense-mediated decay activity. 1 Publication2

Organism-specific databases

DisGeNETi9939
GeneReviewsiRBM8A
MalaCardsiRBM8A
OpenTargetsiENSG00000265241
Orphaneti3320 Thrombocytopenia - absent radius
PharmGKBiPA34270

Polymorphism and mutation databases

DMDMi10720244

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemovedCombined sources
ChainiPRO_00000817632 – 174RNA-binding protein 8AAdd BLAST173

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanineCombined sources1
Modified residuei24PhosphoserineCombined sources1
Cross-linki27Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei42PhosphoserineCombined sources1
Modified residuei56PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9Y5S9
PaxDbiQ9Y5S9
PeptideAtlasiQ9Y5S9
PRIDEiQ9Y5S9

PTM databases

iPTMnetiQ9Y5S9
PhosphoSitePlusiQ9Y5S9

Miscellaneous databases

PMAP-CutDBiQ9Y5S9

Expressioni

Tissue specificityi

Ubiquitous.

Gene expression databases

BgeeiENSG00000265241
CleanExiHS_RBM8A
ExpressionAtlasiQ9Y5S9 baseline and differential
GenevisibleiQ9Y5S9 HS

Organism-specific databases

HPAiHPA018403

Interactioni

Subunit structurei

Heterodimer with RBM8A. Part of the mRNA splicing-dependent exon junction complex (EJC) complex; the core complex contains CASC3, EIF4A3, MAGOH and RBM8A. Interacts with PYM1; the interaction is direct and dissociates the EJC from spliced mRNAs. Found in a post-splicing complex with NXF1, RBM8A, UPF1, UPF2, UPF3A, UPF3B and RNPS1. Interacts with BAT1, MAGOH, OVCA1, UPF3B, RNPS1, SRRM1 and ALYREF/THOC4. Interacts with IPO13; the interaction mediates the nuclear import of the MAGOH-RBM8A heterodimer. Identified in the spliceosome C complex. Associates with polysomes.18 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi115265110 interactors.
CORUMiQ9Y5S9
DIPiDIP-33070N
IntActiQ9Y5S9 64 interactors.
MINTiQ9Y5S9
STRINGi9606.ENSP00000333001

Structurei

Secondary structure

1174
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi72 – 78Combined sources7
Helixi86 – 93Combined sources8
Helixi94 – 96Combined sources3
Beta strandi99 – 106Combined sources8
Turni108 – 110Combined sources3
Beta strandi111 – 122Combined sources12
Helixi124 – 134Combined sources11
Beta strandi138 – 143Combined sources6
Beta strandi145 – 153Combined sources9

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1P27X-ray2.00B/D50-155[»]
2HYIX-ray2.30B/H64-154[»]
2J0QX-ray3.20D/G66-174[»]
2J0SX-ray2.21D66-154[»]
2XB2X-ray3.40D/Z66-155[»]
3EX7X-ray2.30B/G51-174[»]
5XJCelectron microscopy3.60w1-174[»]
ProteinModelPortaliQ9Y5S9
SMRiQ9Y5S9
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9Y5S9

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini73 – 151RRMPROSITE-ProRule annotationAdd BLAST79

Sequence similaritiesi

Belongs to the RBM8A family.Curated

Phylogenomic databases

eggNOGiKOG0130 Eukaryota
ENOG4111IHM LUCA
GeneTreeiENSGT00730000111185
HOGENOMiHOG000183826
HOVERGENiHBG055173
InParanoidiQ9Y5S9
KOiK12876
OMAiYDTVEQD
OrthoDBiEOG091G0PLI
PhylomeDBiQ9Y5S9
TreeFamiTF314933

Family and domain databases

CDDicd12324 RRM_RBM8, 1 hit
Gene3Di3.30.70.3301 hit
InterProiView protein in InterPro
IPR012677 Nucleotide-bd_a/b_plait_sf
IPR035979 RBD_domain_sf
IPR008111 RNA-bd_8
IPR000504 RRM_dom
IPR033744 RRM_RBM8
PfamiView protein in Pfam
PF00076 RRM_1, 1 hit
PRINTSiPR01738 RNABINDINGM8
SMARTiView protein in SMART
SM00360 RRM, 1 hit
SUPFAMiSSF54928 SSF54928, 1 hit
PROSITEiView protein in PROSITE
PS50102 RRM, 1 hit

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q9Y5S9-1) [UniParc]FASTAAdd to basket
Also known as: BOV-1a

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.

« Hide

        10         20         30         40         50
MADVLDLHEA GGEDFAMDED GDESIHKLKE KAKKRKGRGF GSEEGSRARM
60 70 80 90 100
REDYDSVEQD GDEPGPQRSV EGWILFVTGV HEEATEEDIH DKFAEYGEIK
110 120 130 140 150
NIHLNLDRRT GYLKGYTLVE YETYKEAQAA MEGLNGQDLM GQPISVDWCF
160 170
VRGPPKGKRR GGRRRSRSPD RRRR
Length:174
Mass (Da):19,889
Last modified:November 1, 1999 - v1
Checksum:i70BBD03CDDFEECFE
GO
Isoform 2 (identifier: Q9Y5S9-2) [UniParc]FASTAAdd to basket
Also known as: BOV-1b

The sequence of this isoform differs from the canonical sequence as follows:
     44-44: Missing.

Show »
Length:173
Mass (Da):19,760
Checksum:i6710C1BD9CFAF92E
GO

Sequence cautioni

The sequence AAG14951 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAG16782 differs from that shown. Chimeric cDNA. A chimeric cDNA originating from chromosomes 1 and 5.Curated
The sequence AAG16782 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti130A → V in CAG46622 (Ref. 8) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00581044Missing in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF127761 mRNA Translation: AAD21089.1
AF198620 mRNA Translation: AAF37551.1
AF231511 mRNA Translation: AAG16781.1
AF231512 mRNA Translation: AAG16782.1 Different initiation.
AF299118 mRNA Translation: AAG27091.1
AF403012 Genomic DNA Translation: AAL26999.1
AF182415 mRNA Translation: AAG14951.1 Different initiation.
AF161463 mRNA Translation: AAF29078.1
CR541823 mRNA Translation: CAG46622.1
CR541805 mRNA Translation: CAG46604.1
AK075009 mRNA Translation: BAG52051.1
AL160282 Genomic DNA No translation available.
CH471244 Genomic DNA Translation: EAW71419.1
BC017088 mRNA Translation: AAH17088.1
CCDSiCCDS72872.1 [Q9Y5S9-1]
RefSeqiNP_005096.1, NM_005105.4 [Q9Y5S9-1]
UniGeneiHs.591455

Genome annotation databases

EnsembliENST00000369307; ENSP00000358313; ENSG00000265241 [Q9Y5S9-2]
ENST00000583313; ENSP00000463058; ENSG00000265241 [Q9Y5S9-1]
ENST00000632555; ENSP00000488265; ENSG00000265241 [Q9Y5S9-1]
GeneIDi9939
KEGGihsa:9939
UCSCiuc031uto.2 human [Q9Y5S9-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiRBM8A_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5S9
Secondary accession number(s): B3KQI9
, Q6FHD1, Q6IQ40, Q9GZX8, Q9NZI4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1999
Last modified: March 28, 2018
This is version 203 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome