Property Summary

NCBI Gene PubMed Count 56
PubMed Score 222.23
PubTator Score 244.63

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count
IGA Glomerulonephritis 454
Myotonia 3
Disease Target Count P-value
lung carcinoma 2844 1.24443027578522E-35
breast carcinoma 1614 7.18773991680864E-19
non-small cell lung cancer 2798 2.88374783796126E-13
Breast cancer 3099 6.95756124481201E-8
Pick disease 1893 7.37735475964337E-6
medulloblastoma, large-cell 6234 2.0661683530855E-5
lung cancer 4473 2.54415495729947E-5
group 4 medulloblastoma 1875 3.49577765476346E-5
ovarian cancer 8492 5.41768048768027E-5
juvenile dermatomyositis 1189 6.86217394097109E-5
atypical teratoid / rhabdoid tumor 4369 9.96139854781129E-5
invasive ductal carcinoma 2950 1.15781725780791E-4
osteosarcoma 7933 1.78877027059243E-4
psoriasis 6685 2.31210349716055E-4
glioblastoma 5572 5.6852394432058E-4
acute quadriplegic myopathy 1157 5.89262625805733E-4
astrocytic glioma 2241 6.53190740875518E-4
colon cancer 1475 0.00104971999128081
ulcerative colitis 2087 0.00120790874285378
pancreatic cancer 2300 0.00124720632305621
primary Sjogren syndrome 789 0.00132744307706635
interstitial cystitis 2299 0.00281571170018454
dermatomyositis 967 0.00293279851022194
adult high grade glioma 2148 0.00295617950437016
ependymoma 2514 0.00348301312993953
cystic fibrosis 1670 0.00449415535080664
progressive supranuclear palsy 674 0.00556017100723865
Amyotrophic Lateral Sclerosis 432 0.00577778295116819
pancreatic ductal adenocarcinoma liver metastasis 1795 0.00591572104678733
Waldenstrons macroglobulinemia 765 0.00706439335599183
Gaucher disease type 1 171 0.0124812621361031
limb girdle muscular dystrophy 2B 74 0.0128651436567278
intraductal papillary-mucinous adenoma (IPMA) 2956 0.0136831036505517
oligodendroglioma 2849 0.0139906522671259
hereditary spastic paraplegia 313 0.0146277814443441
lung adenocarcinoma 2714 0.0150593862950653
aldosterone-producing adenoma 664 0.0282896988154175
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.0330048580294084
Rheumatoid Arthritis 1171 0.0335118388549396
subependymal giant cell astrocytoma 2287 0.0439055936041249
pituitary cancer 1972 0.0461344138478531

Expression

  Differential Expression (41)

Synonym

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

Gene

PDB

3D2N   3D2Q   3D2S  

  Ortholog (8)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG
Xenopus OMA EggNOG

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...