MBNL1 report

I. Expression across cell types

II. Expression across tissues

III. Associated gene sets

GO_0043484Biological processregulation of RNA splicing
GO_0045445Biological processmyoblast differentiation
GO_0008380Biological processRNA splicing
GO_0006397Biological processmRNA processing
GO_0030326Biological processembryonic limb morphogenesis
GO_0001701Biological processin utero embryonic development
GO_0007399Biological processnervous system development
GO_0005654Cellular componentnucleoplasm
GO_0005829Cellular componentcytosol
GO_0010494Cellular componentcytoplasmic stress granule
GO_0005737Cellular componentcytoplasm
GO_0005634Cellular componentnucleus
GO_0001069Molecular functionregulatory region RNA binding
GO_0005515Molecular functionprotein binding
GO_0046872Molecular functionmetal ion binding
GO_0003725Molecular functiondouble-stranded RNA binding
GO_0003723Molecular functionRNA binding

IV. Literature review

[source]
Gene nameMBNL1
Protein nameMuscleblind-like protein 1 (Triplet-expansion RNA-binding protein)
MBNL1 protein (Muscleblind like splicing regulator 1) (Muscleblind-like (Drosophila), isoform CRA_f)
Muscleblind like splicing regulator 1
SynonymsMBNL
KIAA0428
EXP
hCG_28028
DescriptionFUNCTION: 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. Together with RNA binding proteins RBPMS and RBFOX2, activates vascular smooth muscle cells alternative splicing events . Regulates NCOR2 alternative splicing (By similarity). .

AccessionsC9J7P7
ENST00000282486.10 [Q9NR56-1]
C9JP00
ENST00000498502.5
ENST00000464596.5
ENST00000465907.6 [Q9NR56-4]
ENST00000460591.5
C9JCX1
ENST00000478535.1
ENST00000357472.7 [Q9NR56-6]
ENST00000495875.6
ENST00000485910.5 [Q9NR56-3]
Q86VM6
ENST00000492948.5 [Q9NR56-6]
ENST00000493459.5
A0A0A0MQX8
ENST00000355460.6 [Q9NR56-2]
ENST00000463374.5 [Q9NR56-1]
ENST00000545754.5 [Q9NR56-4]
ENST00000459747.1
ENST00000282488.11
H7C4T5
Q9NR56
ENST00000324196.9 [Q9NR56-7]
ENST00000324210.10 [Q9NR56-5]
C9J4T8
H7C4Y1
ENST00000485509.5 [Q9NR56-7]