Human Gene RBM8A (ENST00000583313.7_11) from GENCODE V47lift37
  Description: RNA binding motif protein 8A (from RefSeq NM_005105.5)
Gencode Transcript: ENST00000583313.7_11
Gencode Gene: ENSG00000265241.8_14
Transcript (Including UTRs)
   Position: hg19 chr1:145,507,609-145,513,536 Size: 5,928 Total Exon Count: 6 Strand: +
Coding Region
   Position: hg19 chr1:145,507,667-145,509,211 Size: 1,545 Coding Exon Count: 6 

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Gene AllelesMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr1:145,507,609-145,513,536)mRNA (may differ from genome)Protein (174 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: RBM8A_HUMAN
DESCRIPTION: RecName: Full=RNA-binding protein 8A; AltName: Full=Binder of OVCA1-1; Short=BOV-1; AltName: Full=RNA-binding motif protein 8A; AltName: Full=RNA-binding protein Y14; AltName: Full=Ribonucleoprotein RBM8A;
FUNCTION: Component of a splicing-dependent multiprotein exon junction complex (EJC) deposited at splice junction on mRNAs. The EJC is a dynamic structure consisting of a few core proteins and several more peripheral nuclear and cytoplasmic associated factors that join the complex only transiently either during EJC assembly or during subsequent mRNA metabolism. Core components of the EJC, that remains bound to spliced mRNAs throughout all stages of mRNA metabolism, functions to mark the position of the exon-exon junction in the mature mRNA and thereby influences downstream processes of gene expression including mRNA splicing, nuclear mRNA export, subcellular mRNA localization, translation efficiency and nonsense-mediated mRNA decay (NMD). The heterodimer MAGOH-RBM8A interacts with PYM that function to enhance the translation of EJC-bearing spliced mRNAs by recruiting them to the ribosomal 48S preinitiation complex. Remains associated with mRNAs in the cytoplasm until the mRNAs engage the translation machinery. 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. Complex with MAGOH is a component of the nonsense mediated decay (NMD) pathway.
SUBUNIT: Heterodimer with MAGOH. Part of the exon junction complex (EJC) core complex that contains CASC3, EIF4A3, MAGOH and RBM8A. Found in a mRNA splicing-dependent EJC, at least composed of ACIN1, CASC3, DEK, EIF4A3, MAGOH, NCBP1, NCBP2, PNN, NXF1, RBM8A, UPF2, UPF3A, UPF3B, RNPS1, SAP18, SRRM1 and ALYREF/THOC4. 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. Identified in the spliceosome C complex. Interacts with WIBG/PYM; the interaction is direct and leads to dissociate the EJC from spliced mRNAs. Associates with polysomes.
INTERACTION: P38919:EIF4A3; NbExp=8; IntAct=EBI-447231, EBI-299104; P61326:MAGOH; NbExp=19; IntAct=EBI-447231, EBI-299134; Q9H1J1:UPF3A; NbExp=4; IntAct=EBI-447231, EBI-521530; Q9BZI7:UPF3B; NbExp=8; IntAct=EBI-447231, EBI-372780;
SUBCELLULAR LOCATION: 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.
TISSUE SPECIFICITY: Ubiquitous.
SIMILARITY: Belongs to the RBM8A family.
SIMILARITY: Contains 1 RRM (RNA recognition motif) domain.
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;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: RBM8A
Diseases sorted by gene-association score: thrombocytopenia-absent radius syndrome* (1393), suppurative periapical periodontitis (7), amyotrophic lateral sclerosis type 10 (7), common bile duct disease (7), valproate embryopathy, susceptibility to (6), thoracic outlet syndrome (6), factor x deficiency (5), human immunodeficiency virus infectious disease (1), dementia, frontotemporal (1), amyotrophic lateral sclerosis 1 (1)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -12.9058-0.222 Picture PostScript Text
3' UTR -1444.704325-0.334 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR012677 - Nucleotide-bd_a/b_plait
IPR008111 - RNA-bd_8
IPR000504 - RRM_dom

Pfam Domains:
PF00076 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)
PF08777 - RNA binding motif
PF13893 - RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain)

SCOP Domains:
54928 - RNA-binding domain, RBD

Protein Data Bank (PDB) 3-D Structure
MuPIT help
1P27 - X-ray MuPIT 2HYI - X-ray MuPIT 2J0Q - X-ray MuPIT 2J0S - X-ray MuPIT 2XB2 - X-ray MuPIT 3EX7 - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9Y5S9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003676 nucleic acid binding
GO:0003723 RNA binding
GO:0003729 mRNA binding
GO:0005515 protein binding

Biological Process:
GO:0000184 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay
GO:0000381 regulation of alternative mRNA splicing, via spliceosome
GO:0000398 mRNA splicing, via spliceosome
GO:0006396 RNA processing
GO:0006397 mRNA processing
GO:0006405 RNA export from nucleus
GO:0006406 mRNA export from nucleus
GO:0006417 regulation of translation
GO:0008380 RNA splicing
GO:0031124 mRNA 3'-end processing
GO:0051028 mRNA transport

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005681 spliceosomal complex
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0016607 nuclear speck
GO:0030425 dendrite
GO:0035145 exon-exon junction complex
GO:0043025 neuronal cell body
GO:0071013 catalytic step 2 spliceosome


-  Descriptions from all associated GenBank mRNAs
  BC071577 - Homo sapiens RNA binding motif protein 8A, mRNA (cDNA clone IMAGE:5269855).
BC017088 - Homo sapiens RNA binding motif protein 8A, mRNA (cDNA clone MGC:9713 IMAGE:3850355), complete cds.
AF198620 - Homo sapiens RNA binding motif protein 8 (RBM8) mRNA, complete cds.
AF182415 - Homo sapiens MDS014 (MDS014) mRNA, complete cds.
BC017770 - Homo sapiens RNA binding motif protein 8A, mRNA (cDNA clone IMAGE:4687764), complete cds.
AK075009 - Homo sapiens cDNA FLJ90528 fis, clone NT2RP4001877, highly similar to RNA-binding protein 8A.
AF161463 - Homo sapiens HSPC114 mRNA, complete cds.
AF231511 - Homo sapiens RNA binding motif protein 8A (RBM8A) mRNA, complete cds.
AF127761 - Homo sapiens ribonucleoprotein RBM8 (RBM8) mRNA, complete cds.
FZ414102 - WO 2011007801-A/1: An anti cancer agent, a method to induce cancer cell to apoptosis, and a method of screening of anticancer agent.
JD571915 - Sequence 2 from Patent EP2455103.
KJ906015 - Synthetic construct Homo sapiens clone ccsbBroadEn_15685 RBM8A gene, encodes complete protein.
AB528879 - Synthetic construct DNA, clone: pF1KE0615, Homo sapiens RBM8A gene for RNA binding motif protein 8A, without stop codon, in Flexi system.
CR541823 - Homo sapiens full open reading frame cDNA clone RZPDo834C0332D for gene RBM8A, RNA binding motif protein 8A; complete cds, without stopcodon.
GQ129283 - Synthetic construct Homo sapiens clone HAIB:100068672; DKFZo004C1036 RNA binding motif protein 8A protein (RBM8A) gene, partial cds.
AF299118 - Homo sapiens RNA-binding protein Y14 mRNA, complete cds.
CR541805 - Homo sapiens full open reading frame cDNA clone RZPDo834G0531D for gene RBM8A, RNA binding motif protein 8A; complete cds, incl. stopcodon.
GQ129284 - Synthetic construct Homo sapiens clone HAIB:100068575; DKFZo008C1035 RNA binding motif protein 8A protein (RBM8A) gene, complete cds.
KF051020 - Homo sapiens RNA-binding protein 8A (Y14/RBM8) mRNA, complete cds.
JD153718 - Sequence 134742 from Patent EP1572962.
JD038399 - Sequence 19423 from Patent EP1572962.
JD273286 - Sequence 254310 from Patent EP1572962.
JD549455 - Sequence 530479 from Patent EP1572962.
JD499102 - Sequence 480126 from Patent EP1572962.
JD183906 - Sequence 164930 from Patent EP1572962.
JD084928 - Sequence 65952 from Patent EP1572962.
JD248828 - Sequence 229852 from Patent EP1572962.
JD110445 - Sequence 91469 from Patent EP1572962.
JD508638 - Sequence 489662 from Patent EP1572962.
JD337732 - Sequence 318756 from Patent EP1572962.
JD156307 - Sequence 137331 from Patent EP1572962.
JD072818 - Sequence 53842 from Patent EP1572962.
JD262221 - Sequence 243245 from Patent EP1572962.
JD386094 - Sequence 367118 from Patent EP1572962.
JD061063 - Sequence 42087 from Patent EP1572962.
JD547261 - Sequence 528285 from Patent EP1572962.
JD064524 - Sequence 45548 from Patent EP1572962.
JD483616 - Sequence 464640 from Patent EP1572962.
JD530855 - Sequence 511879 from Patent EP1572962.
JD205624 - Sequence 186648 from Patent EP1572962.
JD058688 - Sequence 39712 from Patent EP1572962.
JD074192 - Sequence 55216 from Patent EP1572962.
JD326444 - Sequence 307468 from Patent EP1572962.
JD344368 - Sequence 325392 from Patent EP1572962.
JD045858 - Sequence 26882 from Patent EP1572962.
JD068733 - Sequence 49757 from Patent EP1572962.
JD445603 - Sequence 426627 from Patent EP1572962.
JD541007 - Sequence 522031 from Patent EP1572962.
JD087606 - Sequence 68630 from Patent EP1572962.
JD082883 - Sequence 63907 from Patent EP1572962.
JD279747 - Sequence 260771 from Patent EP1572962.
JD212121 - Sequence 193145 from Patent EP1572962.
JD167860 - Sequence 148884 from Patent EP1572962.
JD216357 - Sequence 197381 from Patent EP1572962.
JD203216 - Sequence 184240 from Patent EP1572962.
JD286430 - Sequence 267454 from Patent EP1572962.
JD506923 - Sequence 487947 from Patent EP1572962.
JD244114 - Sequence 225138 from Patent EP1572962.
JD249087 - Sequence 230111 from Patent EP1572962.
AL049219 - Homo sapiens mRNA; cDNA DKFZp564J1616 (from clone DKFZp564J1616).
JD379031 - Sequence 360055 from Patent EP1572962.
JD176915 - Sequence 157939 from Patent EP1572962.
JD546252 - Sequence 527276 from Patent EP1572962.
JD150906 - Sequence 131930 from Patent EP1572962.
JD134359 - Sequence 115383 from Patent EP1572962.
JD064640 - Sequence 45664 from Patent EP1572962.
JD091275 - Sequence 72299 from Patent EP1572962.
JD333319 - Sequence 314343 from Patent EP1572962.
JD057477 - Sequence 38501 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y5S9 (Reactome details) participates in the following event(s):

R-HSA-156661 Formation of Exon Junction Complex
R-HSA-8849157 TREX complex binds spliced, capped mRNA:CBC:EJC cotranscriptionally
R-HSA-72185 mRNA polyadenylation
R-HSA-72180 Cleavage of mRNA at the 3'-end
R-HSA-75096 Docking of the TAP:EJC Complex with the NPC
R-HSA-159101 NXF1:NXT1 (TAP:p15) binds capped mRNA:CBC:EJC:TREX (minus DDX39B)
R-HSA-927832 UPF1 binds an mRNP with a termination codon preceding an Exon Junction Complex
R-HSA-75098 mRNP complex dissociates from cytosolic face of NPC
R-HSA-927889 SMG1 phosphorylates UPF1 (enhanced by Exon Junction Complex)
R-HSA-72163 mRNA Splicing - Major Pathway
R-HSA-72172 mRNA Splicing
R-HSA-72203 Processing of Capped Intron-Containing Pre-mRNA
R-HSA-9010553 Regulation of expression of SLITs and ROBOs
R-HSA-72187 mRNA 3'-end processing
R-HSA-109688 Cleavage of Growing Transcript in the Termination Region
R-HSA-159236 Transport of Mature mRNA derived from an Intron-Containing Transcript
R-HSA-8953854 Metabolism of RNA
R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
R-HSA-376176 Signaling by ROBO receptors
R-HSA-73856 RNA Polymerase II Transcription Termination
R-HSA-72202 Transport of Mature Transcript to Cytoplasm
R-HSA-927802 Nonsense-Mediated Decay (NMD)
R-HSA-422475 Axon guidance
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-1266738 Developmental Biology
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B3KQI9, ENST00000583313.1, ENST00000583313.2, ENST00000583313.3, ENST00000583313.4, ENST00000583313.5, ENST00000583313.6, HSPC114, MDS014, NM_005105, Q6FHD1, Q6IQ40, Q9GZX8, Q9NZI4, Q9Y5S9, RBM8, RBM8A_HUMAN, uc326mfz.1, uc326mfz.2
UCSC ID: ENST00000583313.7_11
RefSeq Accession: NM_005105.5
Protein: Q9Y5S9 (aka RBM8A_HUMAN or RBM8_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene RBM8A:
tar (Thrombocytopenia Absent Radius Syndrome)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.