Property Summary

NCBI Gene PubMed Count 56
Grant Count 191
R01 Count 95
Funding $27,549,117.09
PubMed Score 222.23
PubTator Score 244.63

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (41)

Synonym

Accession Q9NR56 E9PBW7 O43311 O43797 Q86UV8 Q86UV9 Q96P92 Q96RE3
Symbols EXP
MBNL

Gene

PDB

3D2N   3D2Q   3D2S  

MLP Assay (4)

AID Type Active / Inconclusive / Inactive Description
2675 confirmatory 100 / 29714 / 248993 qHTS Assay for Inhibitors of MBNL1-poly(CUG) RNA binding
2700 summary 0 / 0 / 0 qHTS Assay for Inhibitors of MBNL1-poly(CUG) RNA binding: Summary
493199 confirmatory 66 / 39 / 30 qHTS Assay for Inhibitors of MBNL1-poly(CUG) RNA binding: Initial hit validation from the primary screen
493205 confirmatory 45 / 29 / 61 qHTS Assay for Inhibitors of MBNL1-poly(CUG) RNA binding: Initial hit validation in AlphaScreen assay for MBNL1-(CUG)12 binding

Gene RIF (44)

PMID Text
26883358 muscleblind-like 1 (MBNL1) is a robust suppressor of multiorgan breast cancer metastasis. It binds the 3' untranslated regions of DBNL and TACC1 -two genes that are implicated as metastasis suppressors.
26339785 Sense DMPK RNA foci clearly co-localize with MBNL1 and MBNL2 proteins and accumulate in myotonic dystrophy 1 tissues during development.
26218986 Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65
26018658 abnormal splicing of DMD exon 78 found in dystrophic muscles of DM1 patients is due to the functional loss of MBNL1 and leads to the re-expression of an embryonic dystrophin in place of the adult isoform.
25977444 MBNL1 binds with C allelic pre-miR-1307 leading to low expression of miR-1307-3p in colorectal cancer.
25403273 The result is consistent with the hypothesis that MBNL proteins are trapped by expanded CUG repeats and inactivated in myotonic dystrophy type 1 (DM1) and that CELF1 is activated in DM1.
25274774 Results show that nuclear localization is a major determinant of MBNL1 function. It promotes the nuclear retention of repeat-containing transcripts, which results in repression of aberrant protein expression from the expanded repeats.
25211016 Reduced RBFOX1 activity in myotonic dystrophy type 1 tissues may amplify several of the splicing alterations caused by the deficiency in MBNL1.
24440524 both MBNL1 and MBNL2 are involved in the regulation of Tau exon 2 splicing and the mis-splicing of Tau in DM1 is due to the combined inactivation of both.
24373687 Results highlight the importance of RNA binding by MBNL Zinc Finger domains 1 and 2 for splicing regulatory activity, even when the protein is artificially recruited to its regulatory location on target RNAs.
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AA Sequence

MAVSVTPIRDTKWLTLEVCREFQRGTCSRPDTECKFAHPSKSCQVENGRVIACFDSLKGRCSRENCKYLH      1 - 70
PPPHLKTQLEINGRNNLIQQKNMAMLAQQMQLANAMMPGAPLQPVPMFSVAPSLATNASAAAFNPYLGPV     71 - 140
SPSLVPAEILPTAPMLVTGNPGVPVPAAAAAAAQKLMRTDRLEVCREYQRGNCNRGENDCRFAHPADSTM    141 - 210
IDTNDNTVTVCMDYIKGRCSREKCKYFHPPAHLQAKIKAAQYQVNQAAAAQAAATAAAMTQSAVKSLKRP    211 - 280
LEATFDLGIPQAVLPPLPKRPALEKTNGATAVFNTGIFQYQQALANMQLQQHTAFLPPVPMVHGATPATV    281 - 350
SAATTSATSVPFAATATANQIPIISAEHLTSHKYVTQM                                    351 - 388
//

Text Mined References (63)

PMID Year Title
27222292 2016 Identification of variants in MBNL1 in patients with a myotonic dystrophy-like phenotype.
26883358 2016 Muscleblind-like 1 suppresses breast cancer metastatic colonization and stabilizes metastasis suppressor transcripts.
26339785 2015 Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.
26218986 2015 Nuclear retention of full-length HTT RNA is mediated by splicing factors MBNL1 and U2AF65.
26018658 2015 Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy.
25977444 2015 The polymorphic terminal-loop of pre-miR-1307 binding with MBNL1 contributes to colorectal carcinogenesis via interference with Dicer1 recruitment.
25593321 2015 RNA toxicity and missplicing in the common eye disease fuchs endothelial corneal dystrophy.
25416956 2014 A proteome-scale map of the human interactome network.
25403273 2015 ABLIM1 splicing is abnormal in skeletal muscle of patients with DM1 and regulated by MBNL, CELF and PTBP1.
25274774 2015 Nuclear localization of MBNL1: splicing-mediated autoregulation and repression of repeat-derived aberrant proteins.
More...