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RBM8A Gene

protein-coding   GIFtS: 62
GCID: GC01P145507

RNA Binding Motif Protein 8A


(Previous symbol: RBM8)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
RNA Binding Motif Protein 8A1 2     BOV-1A2
RBM81 2 3     BOV-1B2
Binder Of OVCA1-12 3     BOV-1C2
Ribonucleoprotein RBM8A2 3     MDS0142
BOV-12 3     Y142
RNA-Binding Motif Protein 8A2 3     ZNRP2
RNA-Binding Protein Y142 3     ZRNP12
C1DELq21.12 5     Ribonucleoprotein RBM82
DEL1q21.12 5     RNA Binding Motif Protein 8B2
RBM8B2 5     RNA-Binding Protein 8A2
TAR2 5     

External Ids:    HGNC: 99051   Entrez Gene: 99392   Ensembl: ENSG000001317957   OMIM: 6053135   UniProtKB: Q9Y5S93   

Export aliases for RBM8A gene to outside databases

Previous GC identifers: GC01P144028 GC01P142094 GC01P143234 GC01P143256 GC01P142996 GC01P144218 GC01P119471


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 developmental coordination disorder, and thrombocytopenia-absent radius syndrome. GO annotations related to this gene include mRNA binding and RNA binding.

UniProtKB/Swiss-Prot: RBM8A_HUMAN, Q9Y5S9
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 WIBG/PYM 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_004487.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the RBM8A gene promoter:
         HOXA3   AML1a   HNF-1A   C/EBPalpha   GATA-2   FAC1   HSF2   HNF-1   Sox9   Chx10   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidRBM8A promoter sequence
   Search Chromatin IP Primers for RBM8A

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RBM8A


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q21.1   Ensembl cytogenetic band:  1q21.1   HGNC cytogenetic band: 1q21.1

RBM8A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBM8A gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P145507:  view genomic region     (about GC identifiers)

Start:
145,507,557 bp from pter      End:
145,513,536 bp from pter
Size:
5,980 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: RBM8A_HUMAN, Q9Y5S9 (See protein sequence)
Recommended Name: RNA-binding protein 8A  
Size: 174 amino acids; 19889 Da
Subunit: 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 WIBG/PYM; 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
Sequence caution: Sequence=AAG14951.1; Type=Erroneous initiation; Sequence=AAG16782.1; Type=Erroneous initiation;
Sequence=AAG16782.1; Type=Miscellaneous discrepancy; Note=Chimeric cDNA. A chimeric cDNA originating from
chromosomes 1 and 5;
6 PDB 3D structures from and Proteopedia for RBM8A:
1P27 (3D)        2HYI (3D)        2J0Q (3D)        2J0S (3D)        2XB2 (3D)        3EX7 (3D)    
Secondary accessions: B3KQI9 Q6FHD1 Q6IQ40 Q9GZX8 Q9NZI4
Alternative splicing: 2 isoforms:  Q9Y5S9-1   Q9Y5S9-2   

Explore the universe of human proteins at neXtProt for RBM8A: NX_Q9Y5S9

Explore proteomics data for RBM8A at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See RBM8A Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005096.1  
    ENSEMBL proteins: 
     ENSP00000333001   ENSP00000358313  
    Reactome Protein details: Q9Y5S9

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    RBM: RNA binding motif (RRM) containing

    3 InterPro protein domains:
     IPR008111 RNA-bd_8
     IPR012677 Nucleotide-bd_a/b_plait
     IPR000504 RRM_dom

    Graphical View of Domain Structure for InterPro Entry Q9Y5S9

    ProtoNet protein and cluster: Q9Y5S9

    2 Blocks protein domains:
    IPB000504 RNA-binding region RNP-1 (RNA recognition motif)
    IPB008111 RNA binding motif protein 8 family signature


    UniProtKB/Swiss-Prot: RBM8A_HUMAN, Q9Y5S9
    Similarity: Belongs to the RBM8A family
    Similarity: Contains 1 RRM (RNA recognition motif) domain


    RBM8A for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: RBM8A_HUMAN, Q9Y5S9
    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 WIBG/PYM 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 Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding IEA--
    GO:0003676nucleic acid binding ----
    GO:0003723RNA binding NAS11013075
    GO:0003729mRNA binding NAS11030346
    GO:0005515protein binding IPI10662555
         
    RBM8A for ontologies           About GeneDecksing


    Phenotypes:
         8 GenomeRNAi human phenotypes for RBM8A:
     Abundance of large cells with   Cell cycle / mitosis defect  Decreased cell number  Decreased viability of wild-ty 
     Increased gamma-H2AX phosphory  Increased number of cells in m  Increased number of mitotic ce  Synthetic lethal with Ras 

    Animal Models:
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for RBM8A

    miRNA
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    miRTarBase miRNAs that target RBM8A:
    hsa-mir-193b-3p (MIRT016487), hsa-mir-340-5p (MIRT019607), hsa-mir-92b-3p (MIRT040716), hsa-let-7e-5p (MIRT051599), hsa-mir-186-5p (MIRT045184), hsa-mir-877-3p (MIRT036981), hsa-mir-615-3p (MIRT040350), hsa-mir-744-5p (MIRT037447), hsa-mir-148b-3p (MIRT043578)

    Block miRNA regulation of human, mouse, rat RBM8A using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate RBM8A (see all 52):
    hsa-miR-193a-3p hsa-miR-328 hsa-miR-766 hsa-miR-105 hsa-miR-4267 hsa-miR-570 hsa-miR-877* hsa-miR-532-5p
    SwitchGear 3'UTR luciferase reporter plasmidRBM8A 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    RBM8A_HUMAN, Q9Y5S9: 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: 

    CompartmentConfidence
    nucleus5
    cytosol4

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus NAS11013075
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm NAS11030346
    GO:0005829cytosol TAS--

    RBM8A for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for RBM8A About   (see all 9)  
    See pathways by source

    SuperPathContained pathways About
    1RNA Polymerase II Transcription Termination
    RNA Polymerase II Transcription Termination0.80
    mRNA 3-end processing0.80
    Cleavage of Growing Transcript in the Termination Region0.80
    2mRNA Splicing - Major Pathway
    mRNA Splicing - Major Pathway0.78
    mRNA Splicing0.78
    Processing of Capped Intron-Containing Pre-mRNA0.78
    3Transport of Mature Transcript to Cytoplasm
    Transport of Mature mRNA derived from an Intron-Containing Transcript0.93
    Transport of Mature Transcript to Cytoplasm0.93
    4Influenza Viral RNA Transcription and Replication
    Nonsense-Mediated Decay0.89
    Nonsense Mediated Decay Enhanced by the Exon Junction Complex0.89
    5Formation of RNA Pol II elongation complex
    RNA Polymerase II Transcription0.60

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 Reactome Pathways for RBM8A
        mRNA Splicing - Major Pathway
    Transport of Mature mRNA derived from an Intron-Containing Transcript
    Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
    mRNA 3'-end processing
    Cleavage of Growing Transcript in the Termination Region


    3 Kegg Pathways  (Kegg details for RBM8A):
        RNA transport
    mRNA surveillance pathway
    Spliceosome


    RBM8A for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for RBM8A
    Interactions:

        GeneGlobe Interaction Network for RBM8A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for RBM8A (Q9Y5S91, 2, 3 ENSP000003330014) via UniProtKB, MINT, STRING, and/or I2D (see all 214)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UPF3BQ9BZI71, 2, 3, ENSP000002762014EBI-447231,EBI-372780 MINT-18282 I2D: score=3 STRING: ENSP00000276201
    MAGOHBQ96A722, 3, ENSP000003192404MINT-68487 I2D: score=10 STRING: ENSP00000319240
    MAGOHP613261, 2, 3, ENSP000003605254EBI-447231,EBI-299134 MINT-8337860 I2D: score=5 STRING: ENSP00000360525
    EIF4A3P389191, 3, ENSP000002693494EBI-447231,EBI-299104 I2D: score=3 STRING: ENSP00000269349
    UPF3AQ9H1J11, 3, ENSP000003644484EBI-447231,EBI-521530 I2D: score=4 STRING: ENSP00000364448
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000184nuclear-transcribed mRNA catabolic process, nonsense-mediated decay TAS--
    GO:0000381regulation of alternative mRNA splicing, via spliceosome IMP--
    GO:0000398mRNA splicing, via spliceosome TAS--
    GO:0006366transcription from RNA polymerase II promoter TAS--
    GO:0006369termination of RNA polymerase II transcription TAS--

    RBM8A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Tocris compounds for RBM8A

    3 Novoseek inferred chemical compound relationships for RBM8A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gnrh 19.8 1 12538601 (1)
    atp 7.2 2 16170325 (1), 16923391 (1)
    arginine 5.39 3 16100109 (2)



    RBM8A for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for RBM8A gene: 
    NM_005105.4  

    Unigene Cluster for RBM8A:

    RNA binding motif protein 8A
    Hs.591455  [show with all ESTs]
    Unigene Representative Sequence: NM_005105
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000484825 ENST00000498663 ENST00000330165(uc001ent.2 uc001enu.2)
    ENST00000369307
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat RBM8A
      QuantiFast Probe-based Assays in human, mouse, rat RBM8A

    Additional mRNA sequence: 

    AF127761.1 AF161463.1 AF182415.1 AF198620.1 AF231511.1 AF299118.1 AK075009.1 AL049219.1 
    BC017088.2 BC017770.1 CR541805.1 CR541823.1 

    Selected DOTS entries (see all 28):

    DT.86854958  DT.447841  DT.95161012  DT.95161011  DT.92397337  DT.121360222  DT.95340151  DT.95340149 
    DT.100709242  DT.100830866  DT.91777441  DT.95161010  DT.120782765  DT.120782768  DT.91777447  DT.121360291 
    DT.95340152  DT.100806360  DT.121360202  DT.121360256  DT.121360263  DT.121360282  DT.121360285  DT.40114765 

    Selected AceView cDNA sequences (see all 710):

    BQ374220 BU782007 BQ374134 BQ445824 BQ897888 BE256827 AF231511 BU190733 
    AA443427 AV715294 BE253253 CR609876 BC011963 BM831104 BQ690374 CA412548 
    BX346778 AA478530 BM696053 BM504213 AW732552 CF127330 AU142699 BE875797 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for RBM8A (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c ^ 6a · 6b · 6c · 6d · 6e ^ 7
    SP1:                          -                 -                                         -     -     -         
    SP2:                          -                 -                                                               
    SP3:                          -                 -                                                               
    SP4:                          -                 -                       -                                       
    SP5:                          -                 -                                                               


    ECgene alternative splicing isoforms for RBM8A

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    RBM8A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCCTTGGA
    RBM8A Expression
    About this image


    RBM8A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Ovarian Mesenchymal Stroma Cells Ovary Interstitium
             Oviduct
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
    RBM8A Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    RBM8A Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591455

    UniProtKB/Swiss-Prot: RBM8A_HUMAN, Q9Y5S9
    Tissue specificity: Ubiquitous

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for RBM8A gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Rbm8a1 , 5 RNA binding motif protein 8a1, 5 89.85(n)1
    100(a)1
      3 (41.93 cM)5
    603651  NM_001102407.11  NP_001095877.11 
     966299285 
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC685912 hypothetical protein MGC68591 75.52(n)    BC056659.1 
    zebrafish
    (Danio rerio)
    Actinopterygii rbm8a1 RNA binding motif protein 8A 75.72(n)
    93.38(a)
      503767  NM_001013345.1  NP_001013363.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta tsu1 , 3 regulation of pole plasm oskar mRNA
    localization RNA binding less3
    tsunagi1
    61(a)3
    66.67(n)1
    67.57(a)1
      45A73
    359241  NM_136610.31  NP_610454.21 
    worm
    (Caenorhabditis elegans)
    Secernentea rnp-41 rnp-4 61.61(n)
    66.07(a)
      175572  NM_065490.4  NP_497891.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons Y141 Y14 60.18(n)
    58.41(a)
      841576  NM_104029.3  NP_564591.1 
    barley
    (Hordeum vulgare)
    Liliopsida Hv.40712 Transcribed sequence with weak similarity to protein refNP_564591.1 (A.thaliana) RNA-binding protein, putative [Arabidopsis thaliana] less 72.03(n)    BG299343.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for RBM8A (see all 119)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs716640971,2
    --119474683(+) CTACCC/TACCTA 1 -- ut311Minor allele frequency- T:0.50NA 2
    rs1906270941,2
    --152397412(-) AATATA/GATGCT 1 -- ut310--------
    rs716640961,2
    C,F--152397629(-) TGGACC/G/TGTGTG 2 -- ut311NA 2
    rs1878312501,2
    --152397646(-) GGACTC/GGGCCA 1 -- ut310--------
    rs1431204451,2
    --152397775(-) CAATGC/TGGCTA 1 -- ut310--------
    rs1470384281,2
    C--152398174(-) AGCTCA/GCCTCC 1 -- ut310--------
    rs1441127861,2
    --152398190(-) ATAGCC/TAGTGA 1 -- ut310--------
    rs1392177401,2
    --152398919(-) TGCCCA/GGCTAA 1 -- ut310--------
    rs1139890261,2
    F--152399230(-) TTACCG/CTATAT 1 -- ut311Minor allele frequency- C:0.50CSA 2
    rs557810031,2
    C,F--152399231(+) TATACG/AGTAAG 1 -- ut312Minor allele frequency- A:0.02CSA WA 120

    HapMap Linkage Disequilibrium report for RBM8A (145507557 - 145513536 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for RBM8A:    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv15n16CNV Deletion17901297
    dgv46e201CNV Deletion23290073
    esv2422428CNV Duplication17116639
    nsv2710CNV Insertion18451855
    dgv346n71CNV Gain21882294
    dgv347n71CNV Gain21882294
    nsv831381CNV Gain17160897
    nsv831370CNV Gain17160897
    dgv105e1CNV Complex17122850
    nsv7181OTHER Inversion18451855

    Human Gene Mutation Database (HGMD): RBM8A
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing RBM8A
    DNA2.0 Custom Variant and Variant Library Synthesis for RBM8A

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605313   
    OMIM disorders: 274000  
    12 diseases for RBM8A:    
    About MalaCards
    developmental coordination disorder    thrombocytopenia-absent radius syndrome    thrombocytopenia    colon adenocarcinoma
    tonsillitis    hiv-1    adenocarcinoma    malaria
    thyroiditis    cerebritis    endotheliitis    prostatitis

    1 disease from the University of Copenhagen DISEASES database for RBM8A:
    Developmental coordination disorder

    RBM8A for disorders           About GeneDecksing


    Export disorders for RBM8A gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for RBM8A gene, integrated from 10 sources (see all 102):
    (articles sorted by number of sources associating them with RBM8A)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 11013075)1, 2, 3 Salicioni A.M.... Godwin A.K. (Genomics 2000)
    2. Cloning and gene expression of a novel human ribonucleoprotein. (PubMed id 11004516)1, 2, 3 Conklin D.C....Millar R.P. (Biochim. Biophys. Acta 2000)
    3. Y14 and hUpf3b form an NMD-activating complex. (PubMed id 12718880)1, 2, 9 Gehring N.H.... Kulozik A.E. (Mol. Cell 2003)
    4. MAGOH interacts with a novel RNA-binding protein. (PubMed id 10662555)1, 2, 9 Zhao X.F.... Aplan P.D. (Genomics 2000)
    5. Pre-mRNA splicing imprints mRNA in the nucleus with a novel RNA- binding protein that persists in the cytoplasm. (PubMed id 11030346)1, 2, 9 Kataoka N....Dreyfuss G. (Mol. Cell 2000)
    6. Structure of the Y14-Magoh core of the exon junction complex. (PubMed id 12781131)1, 2, 9 Lau C.K.... Van Duyne G.D. (Curr. Biol. 2003)
    7. The genes encoding the type II gonadotropin-releasing hormone receptor and the ribonucleoprotein RBM8A in humans overlap in two genomic loci. (PubMed id 11707068)1, 2, 9 Faurholm B.... Katz A.A. (Genomics 2001)
    8. Importin 13: a novel mediator of nuclear import and export. (PubMed id 11447110)1, 2, 9 Mingot J.-M.... Goerlich D. (EMBO J. 2001)
    9. PYM binds the cytoplasmic exon-junction complex and ribosomes to enhance translation of spliced mRNAs. (PubMed id 18026120)1, 2, 9 Diem M.D.... Dreyfuss G. (Nat. Struct. Mol. Biol. 2007)
    10. The exon junction core complex is locked onto RNA by inhibition of eIF4AIII ATPase activity. (PubMed id 16170325)1, 2, 9 Ballut L....Le Hir H. (Nat. Struct. Mol. Biol. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 9939 HGNC: 9905 AceView: PEX11BandRBM8A Ensembl:ENSG00000131795 euGenes: HUgn9939
    ECgene: RBM8A Kegg: 9939 H-InvDB: RBM8A

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for RBM8A Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for RBM8A Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for RBM8A gene:
    Search GeneIP for patents involving RBM8A

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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