======= MBNL1 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MBNL1
  * **<color #00a2e8>Official Name</color>**: muscleblind like splicing regulator 1
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=4154|4154]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/Q9NR56|Q9NR56]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MBNL1&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MBNL1|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/606516|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]. 
  * **<color #00a2e8>UniProt Summary</color>**:  Mediates pre-mRNA alternative splicing regulation. Acts either as activator or repressor of splicing on specific pre-mRNA targets. Inhibits cardiac troponin-T (TNNT2) pre-mRNA exon inclusion but induces insulin receptor (IR) pre-mRNA exon inclusion in muscle. Antagonizes the alternative splicing activity pattern of CELF proteins. Regulates the TNNT2 exon 5 skipping through competition with U2AF2. Inhibits the formation of the spliceosome A complex on intron 4 of TNNT2 pre-mRNA. Binds to the stem-loop structure within the polypyrimidine tract of TNNT2 intron 4 during spliceosome assembly. Binds to the 5'-YGCU(U/G)Y- 3'consensus sequence. Binds to the IR RNA. Binds to expanded CUG repeat RNA, which folds into a hairpin structure containing GC base pairs and bulged, unpaired U residues. {ECO:0000269|PubMed:10970838, ECO:0000269|PubMed:15257297, ECO:0000269|PubMed:16946708, ECO:0000269|PubMed:18335541, ECO:0000269|PubMed:19470458}.

<button type='default' 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'>
No Pfam Domain information is available for this gene.
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|regulatory region RNA binding|
|myoblast differentiation|
|regulation of alternative mRNA splicing, via spliceosome|
|cytoplasmic stress granule|
|double-stranded RNA binding|
|regulation of mRNA splicing, via spliceosome|
|embryonic appendage morphogenesis|
|embryonic limb morphogenesis|
|regulation of RNA splicing|
|regulation of mRNA processing|
|appendage morphogenesis|
|limb morphogenesis|
|limb development|
|appendage development|
|regulation of mRNA metabolic process|
|in utero embryonic development|
|RNA splicing|
|muscle structure development|
|mRNA processing|
|embryonic morphogenesis|
|chordate embryonic development|
|embryo development ending in birth or egg hatching|
|mRNA metabolic process|
|RNA processing|
|embryo development|
|RNA binding|
|RNA metabolic process|
|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:exp215|Colchicine 0.009μM R05 exp215]]|-2.98|
|[[:results:exp346|CoCl2 18μM R07 exp346]]|-2.77|
|[[:results:exp320|ABT-702 5μM plus CoCl2 18μM R07 exp320]]|-2.63|
|[[:results:exp75|MK-1775 0.32μM R02 exp75]]|-2.16|
|[[:results:exp245|UM0011500 5μM R05 exp245]]|-2.15|
|[[:results:exp246|UM0011500 10μM R05 exp246]]|-2.06|
|[[:results:exp160|Ribavirin 10 to 15μM on day4 R04 exp160]]|-2.02|
|[[:results:exp348|Cyclosporin-A 3μM R07 exp348]]|-1.95|
|[[:results:exp226|Cerivastatin 0.15μM R05 exp226]]|-1.81|
|[[:results:exp37|Wortmannin 0.5μM R00 exp37]]|-1.79|
|[[:results:exp347|Cyclosporin-A 0.8μM R07 exp347]]|-1.74|
|[[:results:exp64|Nocodazole 0.2μM R02 exp64]]|-1.74|
|[[:results:exp230|Epigallocatechin gallate 20μM R05 exp230]]|1.72|
|[[:results:exp505|ML-792 0.2μM R08 exp505]]|1.72|
|[[:results:exp355|Dinaciclib 0.007μM R07 exp355]]|1.73|
|[[:results:exp248|UM0131023 0.05μM R05 exp248]]|1.77|
|[[:results:exp264|Arsenate 40μM R06 exp264]]|1.79|
|[[:results:exp452|Azithromycin 100μM R08 exp452]]|1.84|
|[[:results:exp299|Talazoparib 0.006μM R06 exp299]]|1.84|
|[[:results:exp68|Clomiphene 4.4μM R02 exp68]]|1.95|
|[[:results:exp231|Epothilone-B 0.0015μM R05 exp231]]|1.95|
|[[:results:exp79|Q15 2.7μM R02 exp79]]|1.98|
|[[:results:exp489|Hippuristanol 0.12μM R08 exp489 no dilution day6]]|2.01|
|[[:results:exp488|Hippuristanol 0.12μM R08 exp488]]|2.02|
|[[:results:exp294|Nutlin-3A 1.6μM R06 exp294]]|2.03|
|[[:results:exp461|BS-181 20μM R08 exp461]]|2.04|
|[[:results:exp301|VER-155008 3.9μM R06 exp301]]|2.04|
|[[:results:exp198|Etoposide 0.1μM R05 exp198]]|2.08|
|[[:results:exp514|Phorbol-12-myristate-13-acetate 0.57μM R08 exp514]]|2.11|
|[[:results:exp510|Nicotine 3000μM R08 exp510]]|2.18|
|[[:results:exp214|2-Deoxy-D-glucose 800μM R05 exp214]]|2.26|
|[[:results:exp433|LJH685 50μM R08 exp433]]|2.26|
|[[:results:exp274|Citral 50μM R06 exp274]]|2.27|
|[[:results:exp468|CB-5083 0.4μM R08 exp468]]|2.39|
|[[:results:exp447|Amiloride 100μM R08 exp447]]|2.46|
|[[:results:exp102|Nifuroxazide 5μM R03 exp102]]|2.54|
|[[:results:exp103|Taxol 0.004μM R03 exp103]]|2.56|
|[[:results:exp217|Mdivi-1 15μM R05 exp217]]|2.65|
|[[:results:exp501|Methotrexate 0.01μM R08 exp501]]|2.93|
|[[:results:exp234|Ethanol 0.01 R05 exp234]]|2.94|
|[[:results:exp134|MS023 2μM R03 exp134]]|2.95|
|[[:results:exp84|UM0125461 0.74μM R02 exp84]]|3.93|
|[[:results:exp21|MLN-4924 0.2μM R00 exp21]]|4.48|
|[[:results:exp335|Aminopterin 0.005μM R07 exp335]]|4.87|
|[[:results:exp500|LY2090314 0.003μM R08 exp500 no dilution day6]]|5.49|
|[[:results:exp499|LY2090314 0.003μM R08 exp499]]|5.92|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:p:prmt10|PRMT10]]|0.401|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 12/739
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|0/28|
|blood|2/28|
|bone|0/26|
|breast|0/33|
|central nervous system|0/56|
|cervix|0/4|
|colorectal|0/17|
|esophagus|0/13|
|fibroblast|0/1|
|gastric|0/16|
|kidney|0/21|
|liver|0/20|
|lung|0/75|
|lymphocyte|3/16|
|ovary|0/26|
|pancreas|0/24|
|peripheral nervous system|0/16|
|plasma cell|3/15|
|prostate|0/1|
|skin|1/24|
|soft tissue|0/9|
|thyroid|0/2|
|upper aerodigestive|0/22|
|urinary tract|0/29|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 6700
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 7.68 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MBNL1 Expression in NALM6 Cells: 7.68'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>