MBNL1 (muscleblind like splicing regulator 1)

2007-06-01  

Identity

HGNC
LOCATION
3q25.1
LOCUSID
ALIAS
EXP,MBNL
FUSION GENES

Other Information

Locus ID:

NCBI: 4154
MIM: 606516
HGNC: 6923
Ensembl: ENSG00000152601

Variants:

dbSNP: 4154
ClinVar: 4154
TCGA: ENSG00000152601
COSMIC: MBNL1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000152601ENST00000282486Q9NR56
ENSG00000152601ENST00000282488A0A0A0MQX8
ENSG00000152601ENST00000324196Q9NR56
ENSG00000152601ENST00000324210Q9NR56
ENSG00000152601ENST00000355460Q9NR56
ENSG00000152601ENST00000357472Q9NR56
ENSG00000152601ENST00000459747C9J4T8
ENSG00000152601ENST00000460591C9JCX1
ENSG00000152601ENST00000463374Q9NR56
ENSG00000152601ENST00000464596H7C4T5
ENSG00000152601ENST00000465907Q9NR56
ENSG00000152601ENST00000478535H7C4Y1
ENSG00000152601ENST00000485509Q9NR56
ENSG00000152601ENST00000485910Q9NR56
ENSG00000152601ENST00000492948Q9NR56
ENSG00000152601ENST00000493459Q86VM6
ENSG00000152601ENST00000495875C9J7P7
ENSG00000152601ENST00000498502C9JP00
ENSG00000152601ENST00000545754Q9NR56

Expression (GTEx)

0
50
100
150
200
250

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
152572972004Muscleblind proteins regulate alternative splicing.200
237393262013MBNL proteins repress ES-cell-specific alternative splicing and reprogramming.127
216859202011Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy.115
179427442007MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T.98
155468722005MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1.90
159614062005Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy.90
223557232012CUGBP1 and MBNL1 preferentially bind to 3' UTRs and facilitate mRNA decay.85
190434152008Structural insights into RNA recognition by the alternative-splicing regulator muscleblind-like MBNL1.83
169467082006Interaction of muscleblind, CUG-BP1 and hnRNP H proteins in DM1-associated aberrant IR splicing.77
198052602009A simple ligand that selectively targets CUG trinucleotide repeats and inhibits MBNL protein binding.77

Citation

Dessen P

MBNL1 (muscleblind like splicing regulator 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-06-01

Online version: http://atlasgeneticsoncology.org/gene/44023/mbnl1