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FLASH GENE
Symbol RBM8A contributors: npt/mct - updated : 08-02-2014
HGNC name RNA binding motif protein 8A
HGNC id 9905
Corresponding disease
DEL1Q21P chromosome 1q21.1 proximal region microdeletion, TAR-associated
TAR thrombocytopenia-absent radius syndrome
Location 1q21.1      Physical location : 145.507.637 - 145.511.444
Synonym name
  • binder of OVCA1
  • RNA-binding protein Y14
  • ribonucleoprotein RBM8
  • Synonym symbol(s) RBM8, ZRNP1, BOV1A, BOV1B, HSPC114, Y14, ZNRP, RBM8B, BOV-1A, BOV-1B, BOV-1C, MDS014
    DNA
    TYPE functioning gene
    SPECIAL FEATURE overlapping, gene in gene, opposite orientation, antisens
    text
  • 3'utr antisense homology to the GnRH receptor
  • GNRHR2 in opposite orientation
  • STRUCTURE 3.81 kb     6 Exon(s)
    Genomic sequence alignment details
    10 Kb 5' upstream gene genomic sequence study
    text structure
  • intronless gene
  • MAPPING cloned Y linked N status confirmed
    Physical map
    LOC388674 1 similar to KIAA1245 protein LOC388675 1 similar to hypothetical protein MGC8902 FLJ21272 1q21.2 hypothetical protein FLJ21272 LOC388676 1 similar to PDE4DIP protein SEC22L1 1q12 SEC22 vesicle trafficking protein-like 1 (S. cerevisiae) NUDT4P1 1q12 nudix (nucleoside diphosphate linked moiety X)-type motif 4 pseudogene 1 LOC388677 1 similar to NOTCH2 protein LOC148738 TXNIP 1q12 thioredoxin interacting protein MGC3200 1q21.2 hypothetical protein MGC3200 LOC284615 1q21.2 hypothetical protein LOC284615 MGC46719 1q21.2 hypothetical protein MGC46719 RBM8A 1q12 RNA binding motif protein 8A GNRHR2 1q12 gonadotropin-releasing hormone (type 2) receptor 2 PEX11B 1q21.2 peroxisomal biogenesis factor 11B ITGA10 1q21 integrin, alpha 10 FLJ25124 1q21.2 hypothetical protein FLJ25124 PIAS3 1q21 hypothetical protein FLJ25124 RPC62 1q21.2 polymerase (RNA) III (DNA directed) (62kD) ZNF364 1q21.1 zinc finger protein 364 CD160 1q21.1 CD160 antigen PDZK1 1q21 PDZ domain containing 1 LOC388678 1 LOC388678 LOC391090 1 hypothetical gene supported by AB007923; AL833273 LOC200030 1q21.2 hypothetical protein LOC200030 LOC391091 1 similar to Profilin I LOC91632 1q21.2 similar to MGC5244 protein LOC388679 1 LOC388679
    RNA
    TRANSCRIPTS type messenger
    text
  • two alternative start codons result in two forms of the protein
  • using also multiple polyadenylation sites
  • identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 2787 - 174 - Muromoto (2009)
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestivemouth   highly
     pharynx   moderately
    Lymphoid/Immunethymus   moderately
    Nervousbrain   moderately
    Reproductivemale systemtestis  moderately
    Respiratoryrespiratory tracttrachea  predominantly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Lymphoid    
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Lymphoid/Immunelymphocyte
    cell lineage
    cell lines
    fluid/secretion moderately in blood
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N terminal bipartite nuclear localization signal, nuclear localization signal that also confers its nuclear export, YNS
  • a central region by one copy of the RNA recognition motif RRM (RNA binding domain RBD) containing one set of the two consensus nucleic and acid binding motifs (RNP1, RNP2)
  • a stretch of glycine residues
  • binding
  • amidation site
  • eukaryotic putative RNA-binding region RNP-1 signature
  • at the C terminus an arginine/glycine (RG) and a serine/arginine (SR) rich domains, and 12-amino-acid peptide near C-terminus that is required for its association with spliced mRNAs, as well as for MAGOH
  • secondary structure an RNA-binding domain composed of 2 amphipathic alpha helices packed against a 4-stranded beta sheet
    conjugated PhosphoP
    HOMOLOGY
    interspecies homolog to rattus Rbm8 (100 pc)
    homolog to murine Rbm8a (99.4 pc)
    intraspecies homolog to RBM8B
    Homologene
    FAMILY
  • RNA binding proteins family
  • CATEGORY RNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytosolic
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    text
  • spliceosome complex
  • predominantly in the nucleus
  • localization of RBM8A, MAGOH in centrosome in addition to nuclei
  • basic FUNCTION
  • potentially involved in postsplicing of mRNA in the nucleus or after export to cytoplasm
  • involved in both mRNA nuclear export and mRNA surveillance
  • involved in nonsense-mediated decay (NMD) of mRNAs containing premature stop codons
  • core component of the exon-junction complex (EJC) bound to STAT3 and upregulated the transcriptional activity of STAT3 by influencing its DNA-binding activity (Muromoto 2009)
  • RNA-binding protein that forms the exon-junction complex (EJC) with MAGOH (Muromoto 2009)
  • exon-junction complex protein that with MAGOH remain bound to spliced mRNAs after their export from the nucleus to the cytoplasm and are removed only when these mRNAs are translated (Diem 2007)
  • provides potentially a regulatory link between pre-mRNA splicing and snRNP biogenesis
  • RBM8A-MAGOH complex is required for M-phase progression via direct localization to centrosome rather than indirect effect
  • CELLULAR PROCESS nucleotide, RNA splicing
    PHYSIOLOGICAL PROCESS
    text
  • mRNA transport
  • PATHWAY
    metabolism
    signaling
    a component
  • part of a post-splicing multiprotein complex
  • Complexed with MAGOH is a component of the nonsense mediated decay (NMD) pathway
  • mRNA splicing-dependent exon junction complex (EJC) with DEK, NCBP1, NCBP2, NXF1, RBM8A, RNPS1, RENT2, RENT3A, RENT3B, SRRM1 and THOC4
  • post-splicing complex with NXF1, RBM8A, UPF1, RENT2, RENT3A, RENT3B and RNPS1
  • RBM8A forms the tight heterodimer with MAGOH
  • INTERACTION
    DNA
    RNA
  • associated preferentially with mRNAs produced by splicing
  • associated with both nuclear mRNAs and newly exported cytoplasmic mRNAs
  • small molecule
    protein
  • interacting with BAT1, MAGOH, DPH1, RENT3B, RNPS1, SRRM1 and THOC4
  • RNA-binding protein, and STAT3 binding partner (interacts with STAT3 and regulates the transcriptional activation of STAT3 by influencing the tyrosine-phosphorylation of STAT3) (Ohbayashi 2008)
  • regulates IL6-induced STAT3 activation
  • positively regulates signals for TNF-induced IL6 production at multiple steps beyond an exon junction complex protein
  • cell & other
    REGULATION
    Other serum inducible in quiescent NIH3T3 fibroblasts
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL1Q21P , TAR
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS