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UniProtKB - Q9Y5S9 (RBM8A_HUMAN)

Entry version 226 (07 Oct 2020)
Sequence version 1 (01 Nov 1999)
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Protein

RNA-binding protein 8A

Gene

RBM8A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.8 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

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

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q9Y5S9

Reactome - a knowledgebase of biological pathways and processes

More...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)

SIGNOR Signaling Network Open Resource

More...SIGNORi		Q9Y5S9

Protein family/group databases

Transport Classification Database

More...TCDBi		3.A.18.1.1, the nuclear mrna exporter (mrna-e) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>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 Y141 Publication
Ribonucleoprotein RBM8A
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RBM8A
Synonyms:RBM8
ORF Names:HSPC114, MDS014
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000265241.6

Human Gene Nomenclature Database

More...HGNCi		HGNC:9905, RBM8A

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		605313, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q9Y5S9

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus, Spliceosome

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Thrombocytopenia-absent radius syndrome (TAR)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease 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.
Related information in OMIM

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology%5Fand%5Fbiotech%5Fsection">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>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

DisGeNET

More...DisGeNETi		9939

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		RBM8A

MalaCards human disease database

More...MalaCardsi		RBM8A
MIMi274000, phenotype

Open Targets

More...OpenTargetsi		ENSG00000265241

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		3320, Thrombocytopenia-absent radius syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34270

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q9Y5S9, Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		RBM8A

Domain mapping of disease mutations (DMDM)

More...DMDMi		10720244

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000817632 – 174RNA-binding protein 8AAdd BLAST173

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1
Modified residuei24PhosphoserineCombined sources1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section describes <strong>covalent linkages</strong> of various types formed <strong>between two proteins (interchain cross-links)</strong> or <strong>between two parts of the same protein (intrachain cross-links)</strong>, except the disulfide bonds that are annotated in the <a href="http://www.uniprot.org/manual/disulfid">'Disulfide bond'</a> subsection.<p><a href='/help/crosslnk' target='_top'>More...</a></p>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

Encyclopedia of Proteome Dynamics

More...EPDi		Q9Y5S9

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		Q9Y5S9

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q9Y5S9

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		Q9Y5S9

PeptideAtlas

More...PeptideAtlasi		Q9Y5S9

PRoteomics IDEntifications database

More...PRIDEi		Q9Y5S9

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		86494 [Q9Y5S9-1]
86495 [Q9Y5S9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q9Y5S9

MetOSite database of methionine sulfoxide sites

More...MetOSitei		Q9Y5S9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		Q9Y5S9

SwissPalm database of S-palmitoylation events

More...SwissPalmi		Q9Y5S9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Ubiquitous.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000265241, Expressed in subventricular zone (outer) (primate) and 243 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q9Y5S9, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q9Y5S9, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000265241, Tissue enriched (blood)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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 BAT1, 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 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		115265, 127 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...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

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q9Y5S9

Database of interacting proteins

More...DIPi		DIP-33070N

Protein interaction database and analysis system

More...IntActi		Q9Y5S9, 71 interactors

Molecular INTeraction database

More...MINTi		Q9Y5S9

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000463058

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q9Y5S9, protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1174
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...SMRi		Q9Y5S9

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		Q9Y5S9

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini73 – 151RRMPROSITE-ProRule annotationAdd BLAST79

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the RBM8A family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG0130, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00730000111185

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q9Y5S9

KEGG Orthology (KO)

More...KOi		K12876

Identification of Orthologs from Complete Genome Data

More...OMAi		RDDVGHY

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q9Y5S9

TreeFam database of animal gene trees

More...TreeFami		TF314933

Family and domain databases

Conserved Domains Database

More...CDDi		cd12324, RRM_RBM8, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		3.30.70.330, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00076, RRM_1, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR01738, RNABINDINGM8

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00360, RRM, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF54928, SSF54928, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50102, RRM, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

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

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> 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

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0J9YW13A0A0J9YW13_HUMAN
RNA-binding protein 8A
RBM8A
106Annotation score:

Annotation score:3 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>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
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti130A → V in CAG46622 (Ref. 8) Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00581044Missing in isoform 2. 2 Publications1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

The Consensus CDS (CCDS) project

More...CCDSi		CCDS72872.1 [Q9Y5S9-1]

NCBI Reference Sequences

More...RefSeqi		NP_005096.1, NM_005105.4 [Q9Y5S9-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000369307; ENSP00000358313; ENSG00000265241 [Q9Y5S9-2]
ENST00000583313; ENSP00000463058; ENSG00000265241 [Q9Y5S9-1]
ENST00000632555; ENSP00000488265; ENSG00000265241 [Q9Y5S9-1]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		9939

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:9939

UCSC genome browser

More...UCSCi		uc031uto.2, human [Q9Y5S9-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>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
CCDSiCCDS72872.1 [Q9Y5S9-1]
RefSeqiNP_005096.1, NM_005105.4 [Q9Y5S9-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...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[»]
5YZGelectron microscopy4.10w1-174[»]
6ICZelectron microscopy3.00w1-174[»]
6QDVelectron microscopy3.30864-150[»]
SMRiQ9Y5S9
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi115265, 127 interactors
ComplexPortaliCPX-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
CORUMiQ9Y5S9
DIPiDIP-33070N
IntActiQ9Y5S9, 71 interactors
MINTiQ9Y5S9
STRINGi9606.ENSP00000463058

Protein family/group databases

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

PTM databases

iPTMnetiQ9Y5S9
MetOSiteiQ9Y5S9
PhosphoSitePlusiQ9Y5S9
SwissPalmiQ9Y5S9

Polymorphism and mutation databases

BioMutaiRBM8A
DMDMi10720244

Proteomic databases

EPDiQ9Y5S9
jPOSTiQ9Y5S9
MassIVEiQ9Y5S9
PaxDbiQ9Y5S9
PeptideAtlasiQ9Y5S9
PRIDEiQ9Y5S9
ProteomicsDBi86494 [Q9Y5S9-1]
86495 [Q9Y5S9-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		74773, 128 antibodies

The DNASU plasmid repository

More...DNASUi		9939

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]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		9939
DisGeNETi9939
EuPathDBiHostDB:ENSG00000265241.6

GeneCards: human genes, protein and diseases

More...GeneCardsi		RBM8A
GeneReviewsiRBM8A
HGNCiHGNC:9905, RBM8A
HPAiENSG00000265241, Tissue enriched (blood)
MalaCardsiRBM8A
MIMi274000, phenotype
605313, gene
neXtProtiNX_Q9Y5S9
OpenTargetsiENSG00000265241
Orphaneti3320, Thrombocytopenia-absent radius syndrome
PharmGKBiPA34270

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG0130, Eukaryota
GeneTreeiENSGT00730000111185
InParanoidiQ9Y5S9
KOiK12876
OMAiRDDVGHY
PhylomeDBiQ9Y5S9
TreeFamiTF314933

Enzyme and pathway databases

PathwayCommonsiQ9Y5S9
ReactomeiR-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)
SIGNORiQ9Y5S9

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		9939, 635 hits in 851 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		RBM8A, human
EvolutionaryTraceiQ9Y5S9

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		RBM8A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		9939
PharosiQ9Y5S9, Tbio

Protein Ontology

More...PROi		PR:Q9Y5S9
RNActiQ9Y5S9, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000265241, Expressed in subventricular zone (outer) (primate) and 243 other tissues
ExpressionAtlasiQ9Y5S9, baseline and differential
GenevisibleiQ9Y5S9, HS

Family and domain databases

CDDicd12324, RRM_RBM8, 1 hit
Gene3Di3.30.70.330, 1 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

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRBM8A_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y5S9
Secondary accession number(s): B3KQI9
, Q6FHD1, Q6IQ40, Q9GZX8, Q9NZI4
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1999
Last modified: October 7, 2020
This is version 226 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
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