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Aliases for RBM8A Gene

Aliases for RBM8A Gene

  • RNA Binding Motif Protein 8A 2 3 5
  • Ribonucleoprotein RBM8A 3 4
  • RNA-Binding Protein Y14 3 4
  • Binder Of OVCA1-1 3 4
  • BOV-1 3 4
  • RBM8 3 4
  • RNA Binding Motif Protein 8B 3
  • RNA-Binding Motif Protein 8A 4
  • Ribonucleoprotein RBM8 3
  • C1DELq21.1 3
  • DEL1q21.1 3
  • BOV-1A 3
  • BOV-1B 3
  • BOV-1C 3
  • MDS014 3
  • RBM8B 3
  • ZRNP1 3
  • ZNRP 3
  • TAR 3
  • Y14 3

External Ids for RBM8A Gene

Previous HGNC Symbols for RBM8A Gene

  • RBM8

Previous GeneCards Identifiers for RBM8A Gene

  • GC01P144028
  • GC01P142094
  • GC01P143234
  • GC01P143256
  • GC01P142996
  • GC01P144218
  • GC01P145507
  • GC01P119471

Summaries for RBM8A Gene

Entrez Gene Summary for RBM8A Gene

  • This gene encodes a protein with a conserved RNA-binding motif. The protein is found predominantly in the nucleus, although it is also present in the cytoplasm. It is preferentially associated with mRNAs produced by splicing, including both nuclear mRNAs and newly exported cytoplasmic mRNAs. It is thought that the protein remains associated with spliced mRNAs as a tag to indicate where introns had been present, thus coupling pre- and post-mRNA splicing events. Previously, it was thought that two genes encode this protein, RBM8A and RBM8B; it is now thought that the RBM8B locus is a pseudogene. There are two alternate translation start codons with this gene, which result in two forms of the protein. An allele mutation and a low-frequency noncoding single-nucleotide polymorphism (SNP) in this gene cause thrombocytopenia-absent radius (TAR) syndrome. [provided by RefSeq, Jul 2013]

GeneCards Summary for RBM8A Gene

RBM8A (RNA Binding Motif Protein 8A) is a Protein Coding gene. Diseases associated with RBM8A include Thrombocytopenia-Absent Radius Syndrome. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include nucleic acid binding and RNA binding.

UniProtKB/Swiss-Prot for RBM8A Gene

  • 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.

Gene Wiki entry for RBM8A Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RBM8A Gene

Genomics for RBM8A Gene

Regulatory Elements for RBM8A Gene

Enhancers for RBM8A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around RBM8A on UCSC Golden Path with GeneCards custom track

Promoters for RBM8A Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RBM8A on UCSC Golden Path with GeneCards custom track

Genomic Location for RBM8A Gene

Chromosome:
1
Start:
145,917,714 bp from pter
End:
145,927,678 bp from pter
Size:
9,965 bases
Orientation:
Minus strand

Genomic View for RBM8A Gene

Genes around RBM8A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RBM8A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RBM8A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RBM8A Gene

Proteins for RBM8A Gene

  • Protein details for RBM8A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5S9-RBM8A_HUMAN
    Recommended name:
    RNA-binding protein 8A
    Protein Accession:
    Q9Y5S9
    Secondary Accessions:
    • B3KQI9
    • Q6FHD1
    • Q6IQ40
    • Q9GZX8
    • Q9NZI4

    Protein attributes for RBM8A Gene

    Size:
    174 amino acids
    Molecular mass:
    19889 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAG14951.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAG16782.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAG16782.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. A chimeric cDNA originating from chromosomes 1 and 5.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RBM8A Gene

    Alternative splice isoforms for RBM8A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RBM8A Gene

Proteomics data for RBM8A Gene at MOPED

Post-translational modifications for RBM8A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RBM8A Gene

Antibody Products

  • Abcam antibodies for Y14

No data available for DME Specific Peptides for RBM8A Gene

Domains & Families for RBM8A Gene

Gene Families for RBM8A Gene

Suggested Antigen Peptide Sequences for RBM8A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5S9

UniProtKB/Swiss-Prot:

RBM8A_HUMAN :
  • Contains 1 RRM (RNA recognition motif) domain.
  • Belongs to the RBM8A family.
Domain:
  • Contains 1 RRM (RNA recognition motif) domain.
Family:
  • Belongs to the RBM8A family.
genes like me logo Genes that share domains with RBM8A: view

Function for RBM8A Gene

Molecular function for RBM8A Gene

UniProtKB/Swiss-Prot Function:
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.
genes like me logo Genes that share phenotypes with RBM8A: view

Human Phenotype Ontology for RBM8A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for RBM8A Gene

miRTarBase miRNAs that target RBM8A

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for RBM8A Gene

Localization for RBM8A Gene

Subcellular locations from UniProtKB/Swiss-Prot for RBM8A Gene

Nucleus. Nucleus speckle. Cytoplasm. Note=Nucleocytoplasmic shuttling protein. 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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RBM8A Gene COMPARTMENTS Subcellular localization image for RBM8A gene
Compartment Confidence
nucleus 4
cytosol 2

Gene Ontology (GO) - Cellular Components for RBM8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm NAS 11030346
GO:0005829 cytosol TAS --
GO:0016607 nuclear speck IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with RBM8A: view

Pathways & Interactions for RBM8A Gene

genes like me logo Genes that share pathways with RBM8A: view

SIGNOR curated interactions for RBM8A Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for RBM8A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000398 mRNA splicing, via spliceosome TAS --
GO:0006366 transcription from RNA polymerase II promoter TAS --
GO:0006406 mRNA export from nucleus TAS --
GO:0006417 regulation of translation IEA --
genes like me logo Genes that share ontologies with RBM8A: view

Drugs & Compounds for RBM8A Gene

(2) Drugs for RBM8A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for RBM8A Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RBM8A: view

Transcripts for RBM8A Gene

mRNA/cDNA for RBM8A Gene

Unigene Clusters for RBM8A Gene

RNA binding motif protein 8A:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RBM8A Gene

No ASD Table

Relevant External Links for RBM8A Gene

GeneLoc Exon Structure for
RBM8A
ECgene alternative splicing isoforms for
RBM8A

Expression for RBM8A Gene

mRNA expression in normal human tissues for RBM8A Gene

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MOPED, and MaxQB for RBM8A Gene



SOURCE GeneReport for Unigene cluster for RBM8A Gene Hs.591455

mRNA Expression by UniProt/SwissProt for RBM8A Gene

Q9Y5S9-RBM8A_HUMAN
Tissue specificity: Ubiquitous.
genes like me logo Genes that share expression patterns with RBM8A: view

Protein tissue co-expression partners for RBM8A Gene

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein differential expression in normal tissues for RBM8A Gene

Orthologs for RBM8A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for RBM8A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia RBM8A 35
  • 93.16 (n)
  • 100 (a)
dog
(Canis familiaris)
Mammalia RBM8A 35
  • 92.15 (n)
  • 100 (a)
mouse
(Mus musculus)
Mammalia Rbm8a 35
  • 89.85 (n)
  • 100 (a)
Rbm8a 16
chimpanzee
(Pan troglodytes)
Mammalia RBM8A 35
  • 99.81 (n)
  • 100 (a)
rat
(Rattus norvegicus)
Mammalia Rbm8a 35
  • 89.66 (n)
  • 100 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.1707 35
African clawed frog
(Xenopus laevis)
Amphibia MGC68591 35
zebrafish
(Danio rerio)
Actinopterygii rbm8a 35
  • 75.72 (n)
  • 93.38 (a)
fruit fly
(Drosophila melanogaster)
Insecta tsu 37
  • 61 (a)
tsu 35
  • 66.67 (n)
  • 67.57 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006365 35
  • 65.76 (n)
  • 68.03 (a)
worm
(Caenorhabditis elegans)
Secernentea rnp-4 35
  • 61.61 (n)
  • 66.07 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons Y14 35
  • 60.18 (n)
  • 58.41 (a)
barley
(Hordeum vulgare)
Liliopsida Hv.4071 35
wheat
(Triticum aestivum)
Liliopsida Ta.3458 35
corn
(Zea mays)
Liliopsida Zm.17619 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.1906 35
Species with no ortholog for RBM8A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for RBM8A Gene

ENSEMBL:
Gene Tree for RBM8A (if available)
TreeFam:
Gene Tree for RBM8A (if available)

Paralogs for RBM8A Gene

No data available for Paralogs for RBM8A Gene

Variants for RBM8A Gene

Structural Variations from Database of Genomic Variants (DGV) for RBM8A Gene

Variant ID Type Subtype PubMed ID
nsv7181 OTHER Inversion 18451855
dgv15n16 CNV Deletion 17901297
dgv46e201 CNV Deletion 23290073
dgv105e1 CNV Complex 17122850
esv2422428 CNV Duplication 17116639
dgv346n71 CNV Gain 21882294
dgv347n71 CNV Gain 21882294
nsv831370 CNV Gain 17160897
nsv831381 CNV Gain 17160897
nsv2710 CNV Insertion 18451855

Variation tolerance for RBM8A Gene

Residual Variation Intolerance Score: 38.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.08; 1.92% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RBM8A Gene

Human Gene Mutation Database (HGMD)
RBM8A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations from dbSNP and Humsavar for RBM8A Gene

Disorders for RBM8A Gene

MalaCards: The human disease database

(1) MalaCards diseases for RBM8A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
thrombocytopenia-absent radius syndrome
  • chromosome 1q21.1 deletion syndrome
- elite association - COSMIC cancer census association via MalaCards
Search RBM8A in MalaCards View complete list of genes associated with diseases

Relevant External Links for RBM8A

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RBM8A
genes like me logo Genes that share disorders with RBM8A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for RBM8A Gene

Publications for RBM8A Gene

  1. Identification and structural analysis of human RBM8A and RBM8B: two highly conserved RNA-binding motif proteins that interact with OVCA1, a candidate tumor suppressor. (PMID: 11013075) Salicioni A.M. … Godwin A.K. (Genomics 2000) 2 3 4 67
  2. The exon-junction complex proteins, Y14 and MAGOH regulate STAT3 activation. (PMID: 19254694) Muromoto R. … Matsuda T. (Biochem. Biophys. Res. Commun. 2009) 3 23
  3. PYM binds the cytoplasmic exon-junction complex and ribosomes to enhance translation of spliced mRNAs. (PMID: 18026120) Diem M.D. … Dreyfuss G. (Nat. Struct. Mol. Biol. 2007) 3 23
  4. Binding of a novel SMG-1-Upf1-eRF1-eRF3 complex (SURF) to the exon junction complex triggers Upf1 phosphorylation and nonsense-mediated mRNA decay. (PMID: 16452507) Kashima I. … Ohno S. (Genes Dev. 2006) 3 23
  5. Phosphorylation of Y14 modulates its interaction with proteins involved in mRNA metabolism and influences its methylation. (PMID: 16100109) Hsu I.a.W. … Tarn W.Y. (J. Biol. Chem. 2005) 3 23

Products for RBM8A Gene

Sources for RBM8A Gene

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