MBNL1

Gene Information

Official Symbol: MBNL1
Official Name: muscleblind like splicing regulator 1
Aliases and Previous Symbols: N/A
Entrez ID: 4154
UniProt: Q9NR56
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: 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].
UniProt Summary: 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}.

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Screen	Score
Colchicine 0.009μM R05 exp215	-2.98
CoCl2 18μM R07 exp346	-2.77
ABT-702 5μM plus CoCl2 18μM R07 exp320	-2.63
MK-1775 0.32μM R02 exp75	-2.16
UM0011500 5μM R05 exp245	-2.15
UM0011500 10μM R05 exp246	-2.06
Ribavirin 10 to 15μM on day4 R04 exp160	-2.02
Cyclosporin-A 3μM R07 exp348	-1.95
Cerivastatin 0.15μM R05 exp226	-1.81
Wortmannin 0.5μM R00 exp37	-1.79
Cyclosporin-A 0.8μM R07 exp347	-1.74
Nocodazole 0.2μM R02 exp64	-1.74
Epigallocatechin gallate 20μM R05 exp230	1.72
ML-792 0.2μM R08 exp505	1.72
Dinaciclib 0.007μM R07 exp355	1.73
UM0131023 0.05μM R05 exp248	1.77
Arsenate 40μM R06 exp264	1.79
Azithromycin 100μM R08 exp452	1.84
Talazoparib 0.006μM R06 exp299	1.84
Clomiphene 4.4μM R02 exp68	1.95
Epothilone-B 0.0015μM R05 exp231	1.95
Q15 2.7μM R02 exp79	1.98
Hippuristanol 0.12μM R08 exp489 no dilution day6	2.01
Hippuristanol 0.12μM R08 exp488	2.02
Nutlin-3A 1.6μM R06 exp294	2.03
BS-181 20μM R08 exp461	2.04
VER-155008 3.9μM R06 exp301	2.04
Etoposide 0.1μM R05 exp198	2.08
Phorbol-12-myristate-13-acetate 0.57μM R08 exp514	2.11
Nicotine 3000μM R08 exp510	2.18
2-Deoxy-D-glucose 800μM R05 exp214	2.26
LJH685 50μM R08 exp433	2.26
Citral 50μM R06 exp274	2.27
CB-5083 0.4μM R08 exp468	2.39
Amiloride 100μM R08 exp447	2.46
Nifuroxazide 5μM R03 exp102	2.54
Taxol 0.004μM R03 exp103	2.56
Mdivi-1 15μM R05 exp217	2.65
Methotrexate 0.01μM R08 exp501	2.93
Ethanol 0.01 R05 exp234	2.94
MS023 2μM R03 exp134	2.95
UM0125461 0.74μM R02 exp84	3.93
MLN-4924 0.2μM R00 exp21	4.48
Aminopterin 0.005μM R07 exp335	4.87
LY2090314 0.003μM R08 exp500 no dilution day6	5.49
LY2090314 0.003μM R08 exp499	5.92

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

Essentiality in NALM6

Essentiality Rank: 6700
Expression level (log2 read counts): 7.68

Expression Distribution

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