======= RBM8A =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: RBM8A
  * **<color #00a2e8>Official Name</color>**: RNA binding motif protein 8A
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=9939|9939]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9Y5S9|Q9Y5S9]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=RBM8A&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20RBM8A|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/605313|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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. {ECO:0000269|PubMed:12121612, ECO:0000269|PubMed:12718880, ECO:0000269|PubMed:12730685, ECO:0000269|PubMed:16209946, ECO:0000269|PubMed:19409878, ECO:0000269|PubMed:22203037}.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|RRM 1|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|U2-type catalytic step 1 spliceosome|
|exon-exon junction complex|
|regulation of alternative mRNA splicing, via spliceosome|
|mRNA 3-end processing|
|catalytic step 2 spliceosome|
|regulation of mRNA splicing, via spliceosome|
|mRNA-containing ribonucleoprotein complex export from nucleus|
|mRNA export from nucleus|
|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|
|ribonucleoprotein complex export from nucleus|
|ribonucleoprotein complex localization|
|RNA export from nucleus|
|RNA 3-end processing|
|regulation of RNA splicing|
|regulation of mRNA processing|
|protein export from nucleus|
|mRNA transport|
|nuclear export|
|mRNA binding|
|RNA transport|
|nucleic acid transport|
|establishment of RNA localization|
|nuclear-transcribed mRNA catabolic process|
|RNA localization|
|mRNA catabolic process|
|nucleobase-containing compound transport|
|RNA catabolic process|
|protein-containing complex localization|
|nucleocytoplasmic transport|
|nuclear transport|
|mRNA splicing, via spliceosome|
|RNA splicing, via transesterification reactions with bulged adenosine as nucleophile|
|RNA splicing, via transesterification reactions|
|regulation of mRNA metabolic process|
|regulation of translation|
|neuronal cell body|
|nucleobase-containing compound catabolic process|
|RNA splicing|
|nuclear speck|
|regulation of cellular amide metabolic process|
|dendrite|
|heterocycle catabolic process|
|cellular nitrogen compound catabolic process|
|aromatic compound catabolic process|
|mRNA processing|
|organic cyclic compound catabolic process|
|posttranscriptional regulation of gene expression|
|mRNA metabolic process|
|RNA processing|
|cellular macromolecule catabolic process|
|intracellular protein transport|
|macromolecule catabolic process|
|RNA binding|
|protein transport|
|intracellular transport|
|peptide transport|
|amide transport|
|cellular protein localization|
|cellular macromolecule localization|
|establishment of protein localization|
|RNA metabolic process|
|negative regulation of gene expression|
|organic substance catabolic process|
|cellular catabolic process|
|establishment of localization in cell|
|nitrogen compound transport|
|gene expression|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp126|GSK461364A 0.1μM R03 exp126]]|-1.95|
|[[:results:exp95|BI-2536 0.0042μM R03 exp95]]|-1.82|
|[[:results:exp211|AICAR 240μM R05 exp211]]|-1.71|
|[[:results:exp281|Disulfiram 4.3μM R06 exp281]]|1.7|
|[[:results:exp537|WNT3A 44ng/ml R08 exp537]]|1.75|
|[[:results:exp453|B02 10μM R08 exp453]]|1.8|
|[[:results:exp177|Apcin 25μM plus proTAME 2μM R04 exp177]]|1.95|
|[[:results:exp292|Menadione 5μM R06 exp292]]|2.05|
|[[:results:exp390|Pifithrin-alpha 20μM R07 exp390]]|2.05|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:c:cdca3|CDCA3]]|0.453|
|[[:human genes:p:psmd7|PSMD7]]|0.442|
|[[:human genes:i:ik|IK]]|0.43|
|[[:human genes:n:napa|NAPA]]|0.425|
|[[:human genes:x:xrcc6|XRCC6]]|0.405|
|[[:human genes:c:c1qtnf9b|C1QTNF9B]]|0.4|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 712/726
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|1/1|
|909776.0|1/1|
|bile duct|28/28|
|blood|28/28|
|bone|24/25|
|breast|31/33|
|central nervous system|55/56|
|cervix|4/4|
|colorectal|17/17|
|esophagus|13/13|
|fibroblast|1/1|
|gastric|15/15|
|kidney|20/21|
|liver|20/20|
|lung|73/75|
|lymphocyte|14/14|
|ovary|26/26|
|pancreas|24/24|
|peripheral nervous system|15/16|
|plasma cell|15/15|
|prostate|1/1|
|skin|24/24|
|soft tissue|7/7|
|thyroid|2/2|
|upper aerodigestive|22/22|
|urinary tract|28/29|
|uterus|5/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 787
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.32 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='RBM8A Expression in NALM6 Cells: 7.32'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>