UniProtKB - Q9Y5S9 (RBM8A_HUMAN)
RNA-binding protein 8A
RBM8A
Functioni
GO - Molecular functioni
- mRNA binding Source: GO_Central
- RNA binding Source: UniProtKB
GO - Biological processi
- mRNA 3'-end processing Source: Reactome
- mRNA export from nucleus Source: Reactome
- mRNA splicing, via spliceosome Source: UniProtKB
- nuclear-transcribed mRNA catabolic process, nonsense-mediated decay Source: UniProtKB
- regulation of alternative mRNA splicing, via spliceosome Source: UniProtKB
- regulation of translation Source: UniProtKB-KW
- RNA export from nucleus Source: Reactome
- RNA splicing Source: GO_Central
Keywordsi
Molecular function | RNA-binding |
Biological process | mRNA processing, mRNA splicing, mRNA transport, Nonsense-mediated mRNA decay, Translation regulation, Transport |
Enzyme and pathway databases
PathwayCommonsi | Q9Y5S9 |
Reactomei | 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-73856, RNA Polymerase II Transcription Termination R-HSA-9010553, Regulation of expression of SLITs and ROBOs R-HSA-975957, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) |
SIGNORi | Q9Y5S9 |
Protein family/group databases
TCDBi | 3.A.18.1.1, the nuclear mrna exporter (mrna-e) family |
Names & Taxonomyi
Protein namesi | Recommended name: RNA-binding protein 8AAlternative name(s): Binder of OVCA1-1 Short name: BOV-1 RNA-binding motif protein 8A RNA-binding protein Y141 Publication Ribonucleoprotein RBM8A |
Gene namesi | Name:RBM8A Synonyms:RBM8 ORF Names:HSPC114, MDS014 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:9905, RBM8A |
MIMi | 605313, gene |
neXtProti | NX_Q9Y5S9 |
VEuPathDBi | HostDB:ENSG00000265241.6 |
Subcellular locationi
Cytoplasm and Cytosol
- Cytoplasm 2 Publications
Nucleus
- Nucleus 4 Publications
- Nucleus speckle 2 Publications
Note: 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).2 Publications
Cytosol
- cytosol Source: Reactome
Nucleus
- catalytic step 2 spliceosome Source: UniProtKB
- exon-exon junction complex Source: UniProtKB
- nuclear speck Source: HPA
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB
- U2-type catalytic step 1 spliceosome Source: UniProtKB
Other locations
- cytoplasm Source: UniProtKB
- dendrite Source: Ensembl
- neuronal cell body Source: Ensembl
Keywords - Cellular componenti
Cytoplasm, Nucleus, SpliceosomePathology & Biotechi
Involvement in diseasei
Thrombocytopenia-absent radius syndrome (TAR)1 Publication
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 82 – 83 | EE → RR: Impaired nonsense-mediated decay activity. 1 Publication | 2 | |
Mutagenesisi | 106 – 108 | LDR → RDE: Complete loss of nonsense-mediated decay activity. 1 Publication | 3 | |
Mutagenesisi | 118 | L → R: Complete loss of nonsense-mediated decay activity. 1 Publication | 1 | |
Mutagenesisi | 149 – 150 | CF → KA: Complete loss of nonsense-mediated decay activity. 1 Publication | 2 |
Organism-specific databases
DisGeNETi | 9939 |
GeneReviewsi | RBM8A |
MalaCardsi | RBM8A |
MIMi | 274000, phenotype |
OpenTargetsi | ENSG00000265241 |
Orphaneti | 3320, Thrombocytopenia-absent radius syndrome |
PharmGKBi | PA34270 |
Miscellaneous databases
Pharosi | Q9Y5S9, Tbio |
Genetic variation databases
BioMutai | RBM8A |
DMDMi | 10720244 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Initiator methioninei | RemovedCombined sources | |||
ChainiPRO_0000081763 | 2 – 174 | RNA-binding protein 8AAdd BLAST | 173 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 2 | N-acetylalanineCombined sources | 1 | |
Modified residuei | 24 | PhosphoserineCombined sources | 1 | |
Cross-linki | 27 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 42 | PhosphoserineCombined sources | 1 | |
Modified residuei | 56 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
Acetylation, Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q9Y5S9 |
jPOSTi | Q9Y5S9 |
MassIVEi | Q9Y5S9 |
PaxDbi | Q9Y5S9 |
PeptideAtlasi | Q9Y5S9 |
PRIDEi | Q9Y5S9 |
ProteomicsDBi | 86494 [Q9Y5S9-1] 86495 [Q9Y5S9-2] |
PTM databases
iPTMneti | Q9Y5S9 |
MetOSitei | Q9Y5S9 |
PhosphoSitePlusi | Q9Y5S9 |
SwissPalmi | Q9Y5S9 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000265241, Expressed in subventricular zone (outer) (primate) and 243 other tissues |
ExpressionAtlasi | Q9Y5S9, baseline and differential |
Genevisiblei | Q9Y5S9, HS |
Organism-specific databases
HPAi | ENSG00000265241, Tissue enriched (blood) |
Interactioni
Subunit structurei
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).
26 PublicationsBinary interactionsi
Hide detailsQ9Y5S9
Isoform 1 [Q9Y5S9-1]
With | #Exp. | IntAct |
---|---|---|
MAGOH [P61326] | 7 | EBI-5773674,EBI-299134 |
Protein-protein interaction databases
BioGRIDi | 115265, 142 interactors |
ComplexPortali | CPX-1941, Exon junction core complex, MAGOH variant CPX-1942, Exon junction subcomplex MAGOH-Y14 CPX-680, Exon junction subcomplex MAGOHB-Y14 CPX-682, Exon junction core complex, MAGOHB variant |
CORUMi | Q9Y5S9 |
DIPi | DIP-33070N |
IntActi | Q9Y5S9, 73 interactors |
MINTi | Q9Y5S9 |
STRINGi | 9606.ENSP00000463058 |
Miscellaneous databases
RNActi | Q9Y5S9, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q9Y5S9 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | Q9Y5S9 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 73 – 151 | RRMPROSITE-ProRule annotationAdd BLAST | 79 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG0130, Eukaryota |
GeneTreei | ENSGT00730000111185 |
InParanoidi | Q9Y5S9 |
OMAi | RDDVGHY |
PhylomeDBi | Q9Y5S9 |
TreeFami | TF314933 |
Family and domain databases
CDDi | cd12324, RRM_RBM8, 1 hit |
Gene3Di | 3.30.70.330, 1 hit |
InterProi | View protein in InterPro IPR012677, Nucleotide-bd_a/b_plait_sf IPR035979, RBD_domain_sf IPR008111, RNA-bd_8 IPR000504, RRM_dom IPR033744, RRM_RBM8 |
PANTHERi | PTHR45894, PTHR45894, 1 hit |
Pfami | View protein in Pfam PF00076, RRM_1, 1 hit |
PRINTSi | PR01738, RNABINDINGM8 |
SMARTi | View protein in SMART SM00360, RRM, 1 hit |
SUPFAMi | SSF54928, SSF54928, 1 hit |
PROSITEi | View protein in PROSITE PS50102, RRM, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
: The displayed sequence is further processed into a mature form. Sequence processingi
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
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
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A0J9YW13 | A0A0J9YW13_HUMAN | RNA-binding protein 8A | RBM8A | 106 | Annotation score: |
Sequence cautioni
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 130 | A → V in CAG46622 (Ref. 8) Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_005810 | 44 | Missing in isoform 2. 2 Publications | 1 |
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 |
CCDSi | CCDS72872.1 [Q9Y5S9-1] |
RefSeqi | NP_005096.1, NM_005105.4 [Q9Y5S9-1] |
Genome annotation databases
Ensembli | ENST00000369307; ENSP00000358313; ENSG00000265241 [Q9Y5S9-2] ENST00000583313; ENSP00000463058; ENSG00000265241 [Q9Y5S9-1] ENST00000632555; ENSP00000488265; ENSG00000265241 [Q9Y5S9-1] |
GeneIDi | 9939 |
KEGGi | hsa:9939 |
UCSCi | uc031uto.2, human [Q9Y5S9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
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 |
CCDSi | CCDS72872.1 [Q9Y5S9-1] |
RefSeqi | NP_005096.1, NM_005105.4 [Q9Y5S9-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1P27 | X-ray | 2.00 | B/D | 50-155 | [»] | |
2HYI | X-ray | 2.30 | B/H | 64-154 | [»] | |
2J0Q | X-ray | 3.20 | D/G | 66-174 | [»] | |
2J0S | X-ray | 2.21 | D | 66-154 | [»] | |
2XB2 | X-ray | 3.40 | D/Z | 66-155 | [»] | |
3EX7 | X-ray | 2.30 | B/G | 51-174 | [»] | |
5XJC | electron microscopy | 3.60 | w | 1-174 | [»] | |
5YZG | electron microscopy | 4.10 | w | 1-174 | [»] | |
6ICZ | electron microscopy | 3.00 | w | 1-174 | [»] | |
6QDV | electron microscopy | 3.30 | 8 | 64-150 | [»] | |
7A5P | electron microscopy | 5.00 | w | 1-174 | [»] | |
SMRi | Q9Y5S9 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 115265, 142 interactors |
ComplexPortali | CPX-1941, Exon junction core complex, MAGOH variant CPX-1942, Exon junction subcomplex MAGOH-Y14 CPX-680, Exon junction subcomplex MAGOHB-Y14 CPX-682, Exon junction core complex, MAGOHB variant |
CORUMi | Q9Y5S9 |
DIPi | DIP-33070N |
IntActi | Q9Y5S9, 73 interactors |
MINTi | Q9Y5S9 |
STRINGi | 9606.ENSP00000463058 |
Protein family/group databases
TCDBi | 3.A.18.1.1, the nuclear mrna exporter (mrna-e) family |
PTM databases
iPTMneti | Q9Y5S9 |
MetOSitei | Q9Y5S9 |
PhosphoSitePlusi | Q9Y5S9 |
SwissPalmi | Q9Y5S9 |
Genetic variation databases
BioMutai | RBM8A |
DMDMi | 10720244 |
Proteomic databases
EPDi | Q9Y5S9 |
jPOSTi | Q9Y5S9 |
MassIVEi | Q9Y5S9 |
PaxDbi | Q9Y5S9 |
PeptideAtlasi | Q9Y5S9 |
PRIDEi | Q9Y5S9 |
ProteomicsDBi | 86494 [Q9Y5S9-1] 86495 [Q9Y5S9-2] |
Protocols and materials databases
Antibodypediai | 74773, 130 antibodies |
DNASUi | 9939 |
Genome annotation databases
Ensembli | ENST00000369307; ENSP00000358313; ENSG00000265241 [Q9Y5S9-2] ENST00000583313; ENSP00000463058; ENSG00000265241 [Q9Y5S9-1] ENST00000632555; ENSP00000488265; ENSG00000265241 [Q9Y5S9-1] |
GeneIDi | 9939 |
KEGGi | hsa:9939 |
UCSCi | uc031uto.2, human [Q9Y5S9-1] |
Organism-specific databases
CTDi | 9939 |
DisGeNETi | 9939 |
GeneCardsi | RBM8A |
GeneReviewsi | RBM8A |
HGNCi | HGNC:9905, RBM8A |
HPAi | ENSG00000265241, Tissue enriched (blood) |
MalaCardsi | RBM8A |
MIMi | 274000, phenotype 605313, gene |
neXtProti | NX_Q9Y5S9 |
OpenTargetsi | ENSG00000265241 |
Orphaneti | 3320, Thrombocytopenia-absent radius syndrome |
PharmGKBi | PA34270 |
VEuPathDBi | HostDB:ENSG00000265241.6 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0130, Eukaryota |
GeneTreei | ENSGT00730000111185 |
InParanoidi | Q9Y5S9 |
OMAi | RDDVGHY |
PhylomeDBi | Q9Y5S9 |
TreeFami | TF314933 |
Enzyme and pathway databases
PathwayCommonsi | Q9Y5S9 |
Reactomei | 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-73856, RNA Polymerase II Transcription Termination R-HSA-9010553, Regulation of expression of SLITs and ROBOs R-HSA-975957, Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) |
SIGNORi | Q9Y5S9 |
Miscellaneous databases
BioGRID-ORCSi | 9939, 644 hits in 957 CRISPR screens |
ChiTaRSi | RBM8A, human |
EvolutionaryTracei | Q9Y5S9 |
GeneWikii | RBM8A |
GenomeRNAii | 9939 |
Pharosi | Q9Y5S9, Tbio |
PROi | PR:Q9Y5S9 |
RNActi | Q9Y5S9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000265241, Expressed in subventricular zone (outer) (primate) and 243 other tissues |
ExpressionAtlasi | Q9Y5S9, baseline and differential |
Genevisiblei | Q9Y5S9, HS |
Family and domain databases
CDDi | cd12324, RRM_RBM8, 1 hit |
Gene3Di | 3.30.70.330, 1 hit |
InterProi | View protein in InterPro IPR012677, Nucleotide-bd_a/b_plait_sf IPR035979, RBD_domain_sf IPR008111, RNA-bd_8 IPR000504, RRM_dom IPR033744, RRM_RBM8 |
PANTHERi | PTHR45894, PTHR45894, 1 hit |
Pfami | View protein in Pfam PF00076, RRM_1, 1 hit |
PRINTSi | PR01738, RNABINDINGM8 |
SMARTi | View protein in SMART SM00360, RRM, 1 hit |
SUPFAMi | SSF54928, SSF54928, 1 hit |
PROSITEi | View protein in PROSITE PS50102, RRM, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | RBM8A_HUMAN | |
Accessioni | Q9Y5S9Primary (citable) accession number: Q9Y5S9 Secondary accession number(s): B3KQI9 Q9NZI4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | December 1, 2000 |
Last sequence update: | November 1, 1999 | |
Last modified: | April 7, 2021 | |
This is version 229 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families