Browse MBNL1

Summary
SymbolMBNL1
Namemuscleblind-like splicing regulator 1
Aliases KIAA0428; EXP42; EXP40; EXP35; EXP; MBNL; muscleblind (Drosophila)-like; muscleblind-like (Drosophila); trip ......
Chromosomal Location3q25
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Basic function annotation.
> Subcellular Location, Domain and Function
> Gene Ontology
> KEGG and Reactome Pathway
> Subcellular Location, Domain and Function
 
Subcellular Location Nucleus Cytoplasm Cytoplasmic granule Note=Localized with DDX1, TIAL1 and YBX1 in stress granules upon stress (PubMed:18335541). Localized in the cytoplasm of multinucleated myotubes (PubMed:18335541). Colocalizes with nuclear foci of retained expanded-repeat transcripts in myotubes from patients affected by myotonic dystrophy (PubMed:10970838, PubMed:11590133, PubMed:11929853).
Domain PF00642 Zinc finger C-x8-C-x5-C-x3-H type (and similar)
Function

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.

> Gene Ontology
 
Biological Process GO:0001701 in utero embryonic development
GO:0006397 mRNA processing
GO:0008380 RNA splicing
GO:0030326 embryonic limb morphogenesis
GO:0035107 appendage morphogenesis
GO:0035108 limb morphogenesis
GO:0035113 embryonic appendage morphogenesis
GO:0042692 muscle cell differentiation
GO:0043484 regulation of RNA splicing
GO:0045445 myoblast differentiation
GO:0048736 appendage development
GO:0060173 limb development
Molecular Function GO:0001069 regulatory region RNA binding
GO:0003725 double-stranded RNA binding
Cellular Component GO:0005813 centrosome
GO:0010494 cytoplasmic stress granule
GO:0035770 ribonucleoprotein granule
GO:0036464 cytoplasmic ribonucleoprotein granule
> KEGG and Reactome Pathway
 
KEGG -
Reactome -
Summary
SymbolMBNL1
Namemuscleblind-like splicing regulator 1
Aliases KIAA0428; EXP42; EXP40; EXP35; EXP; MBNL; muscleblind (Drosophila)-like; muscleblind-like (Drosophila); trip ......
Chromosomal Location3q25
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Literatures that report relations between MBNL1 and anti-tumor immunity. The specific mechanism were also collected if the literature reports that a gene specifically promotes or inhibits the infiltration or function of T/NK cells.
> Text Mining
 

There is no record.

Summary
SymbolMBNL1
Namemuscleblind-like splicing regulator 1
Aliases KIAA0428; EXP42; EXP40; EXP35; EXP; MBNL; muscleblind (Drosophila)-like; muscleblind-like (Drosophila); trip ......
Chromosomal Location3q25
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content High-throughput screening data (e.g. CRISPR-Cas9, shRNA and RNAi) for T cell-mediated killing. Genetic screen techniques can identify mechanisms of tumor cell resistance (e.g., PTPN2) and sensitivity (e.g., APLNR) to killing by cytotoxic T cells, the central effectors of anti-tumor immunity. After comprehensively searching, eight groups of screening data sets were collected in the current database. In this tab, users can check whether their selected genes cause resistance or increase sensitivity to T cell-mediated killing in various data sets.
> High-throughput Screening
  Statistical results of MBNL1 in screening data sets for detecting immune reponses.
PMID Screening System Cancer Type Cell Line Data Set Statistical Results Relation to immunity
29301958CRISPR-Cas9 melanomaB16F10Pmel-1 T cell logFC: 2.15; FDR: 0.000150 Sensitive to T cell-mediated killing
29301958CRISPR-Cas9 melanomaB16F10OT-1 T cell NA/NS NA/NS
28783722CRISPR-Cas9 melanomaMel6242CT-CRISPR NA/NS NA/NS
28723893CRISPR-Cas9 melanomaB16GVAX+Anti-PD1 NA/NS NA/NS
28723893CRISPR-Cas9 melanomaB16GVAX NA/NS NA/NS
25691366RNAiBreast cancerMCF7Luc-CTL assay NA/NS NA/NS
24476824shRNAmelanomaB16Primary screen NA/NS NA/NS
24476824shRNAmelanomaB16Secondary screen NA/NS NA/NS
Summary
SymbolMBNL1
Namemuscleblind-like splicing regulator 1
Aliases KIAA0428; EXP42; EXP40; EXP35; EXP; MBNL; muscleblind (Drosophila)-like; muscleblind-like (Drosophila); trip ......
Chromosomal Location3q25
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Transcriptomic and genomic profiling of pre-treated tumor biopsies from responders and non-responders to immunotherapy. These data were used to identify signatures and mechanisms of response to checkpoint blockade (e.g., anti-PDL1 and anti-PD1). One example is that mutations in the gene PBRM1 benefit clinical survival of patients with clear cell renal cell carcinoma. After comprehensively searching, we collected 5 and 6 of transcriptomic and genomic data sets, respectively. In this tab, users can check whether their selected genes have significant difference of expression or mutation between responders and non-responders in various data sets.
> Expression difference between responders and non-responders
> Mutation difference between responders and non-responders
> Expression difference between responders and non-responders
 
Points in the above scatter plot represent the expression difference of MBNL1 in various data sets.
No PMID Cancer type Group Drug # Res # NRes Log2 (Fold Change) P value Anno
126997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)1412-0.0340.923
226997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)650.1330.953
326997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)87-0.1480.924
428552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160.0810.858
528552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 59-0.2910.894
628552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470.5550.845
729033130MelanomaallAnti-PD-1 (nivolumab) 26230.2150.655
829033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 15110.4940.812
929033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 1112-0.1190.96
1029301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 480.4410.786
1129301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 2001
1229301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 280.7890.754
1329443960Urothelial cancerallAnti-PD-L1 (atezolizumab) 68230-0.110.0894
> Mutation difference between responders and non-responders
 
Points in the above scatter plot represent the mutation difference of MBNL1 in various data sets.
No PMID Cancer type Group Drug # Res # NRes % Mut/Res % Mut/NRes % Diff (R vs NR) Pval Anno
125765070Non-small cell lung cancer (NSCLC)allAnti-PD-1 (pembrolizumab) 14170001
225765070Non-small cell lung cancer (NSCLC)smokingAnti-PD-1 (pembrolizumab) 1030001
325765070Non-small cell lung cancer (NSCLC)non-smokingAnti-PD-1 (pembrolizumab) 4140001
426359337MelanomaallAnti-CTLA-4 (ipilimumab) 27733.71.42.30.469
526359337MelanomaBRAFiAnti-CTLA-4 (ipilimumab) 0140001
626359337Melanomanon-BRAFiAnti-CTLA-4 (ipilimumab) 27593.71.720.532
726997480MelanomaallAnti-PD-1 (pembrolizumab and nivolumab)211705.9-5.90.447
826997480MelanomaMAPKiAnti-PD-1 (pembrolizumab and nivolumab)860001
926997480Melanomanon-MAPKiAnti-PD-1 (pembrolizumab and nivolumab)131109.1-9.10.458
1028552987Urothelial cancerallAnti-PD-L1 (atezolizumab) 9160001
1128552987Urothelial cancersmokingAnti-PD-L1 (atezolizumab) 590001
1228552987Urothelial cancernon-smokingAnti-PD-L1 (atezolizumab) 470001
1329033130MelanomaallAnti-PD-1 (nivolumab) 382703.7-3.70.415
1429033130MelanomaNIV3-PROGAnti-PD-1 (nivolumab) 22130001
1529033130MelanomaNIV3-NAIVEAnti-PD-1 (nivolumab) 161407.1-7.10.467
1629301960Clear cell renal cell carcinoma (ccRCC)allAnti-PD-1 (nivolumab) 11130001
1729301960Clear cell renal cell carcinoma (ccRCC)VEGFRiAnti-PD-1 (nivolumab) 610001
1829301960Clear cell renal cell carcinoma (ccRCC)non-VEGFRiAnti-PD-1 (nivolumab) 5120001
Summary
SymbolMBNL1
Namemuscleblind-like splicing regulator 1
Aliases KIAA0428; EXP42; EXP40; EXP35; EXP; MBNL; muscleblind (Drosophila)-like; muscleblind-like (Drosophila); trip ......
Chromosomal Location3q25
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between abundance of tumor-infiltrating lymphocytes (TILs) and expression, copy number, methylation, or mutation of MBNL1. The immune-related signatures of 28 TIL types from Charoentong's study, which can be viewed in the download page. For each cancer type, the relative abundance of TILs were inferred by using gene set variation analysis (GSVA) based on gene expression profile. In this tab, users can examine which kinds of TILs might be regulated by the current gene.
> Lymphocyte
 
Summary
SymbolMBNL1
Namemuscleblind-like splicing regulator 1
Aliases KIAA0428; EXP42; EXP40; EXP35; EXP; MBNL; muscleblind (Drosophila)-like; muscleblind-like (Drosophila); trip ......
Chromosomal Location3q25
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between three kinds of immunomodulators and expression, copy number, methylation, or mutation of MBNL1. These immunomo-dulators were collected from Charoentong's study. In this tab, users can examine which immunomodulators might be regulated by MBNL1.
> Immunoinhibitor
> Immunostimulator
> MHC molecule
> Immunoinhibitor
 
> Immunostimulator
 
> MHC molecule
 
Summary
SymbolMBNL1
Namemuscleblind-like splicing regulator 1
Aliases KIAA0428; EXP42; EXP40; EXP35; EXP; MBNL; muscleblind (Drosophila)-like; muscleblind-like (Drosophila); trip ......
Chromosomal Location3q25
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Relations between chemokines (or receptors) and expression, copy number, methylation, or mutation of MBNL1. In this tab, users can examine which chemokines (or receptors) might be regulated by the current gene.
> Chemokine
> Receptor
> Chemokine
 
> Receptor
 
Summary
SymbolMBNL1
Namemuscleblind-like splicing regulator 1
Aliases KIAA0428; EXP42; EXP40; EXP35; EXP; MBNL; muscleblind (Drosophila)-like; muscleblind-like (Drosophila); trip ......
Chromosomal Location3q25
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Distribution of MBNL1 expression across immune and molecular subtypes.
> Immune subtype
> Molecular subtype
> Immune subtype
 
> Molecular subtype
 
Summary
SymbolMBNL1
Namemuscleblind-like splicing regulator 1
Aliases KIAA0428; EXP42; EXP40; EXP35; EXP; MBNL; muscleblind (Drosophila)-like; muscleblind-like (Drosophila); trip ......
Chromosomal Location3q25
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Associations between MBNL1 and clinical features.
> Overall survival analysis
> Cancer stage
> Tumor grade
> Overall survival
 
> Stage
 
> Grade
 
Summary
SymbolMBNL1
Namemuscleblind-like splicing regulator 1
Aliases KIAA0428; EXP42; EXP40; EXP35; EXP; MBNL; muscleblind (Drosophila)-like; muscleblind-like (Drosophila); trip ......
Chromosomal Location3q25
External Links HGNC, NCBI, Ensembl, Uniprot, GeneCards
Content Drugs targeting MBNL1 collected from DrugBank database.
> Drugs from DrugBank database
 

There is no record.