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Guidelines

MIRAGE

muscleblind like splicing regulator 1

Summary

Gene Symbol

MBNL1

Organism

Homo sapiens (human)

External Links

NCBI Gene

4154

PubChem

4154

Alliance of Genome Resources

HGNC:6923

Annotation

Keyword

3D-structure
Alternative splicing
Corneal dystrophy
Cytoplasm
Disease variant
Nucleus
Phosphoprotein
Proteomics identification
RNA-binding
Reference proteome
Repeat
Zinc-finger
mRNA splicing

Proteins

Displaying **all 4** entries
UniProt	Protein Name
Q86VM6
Q9NR56	Triplet-expansion RNA-binding protein
C9JP00
A0A0A0MQX8

Annotation information from UniProt.

Gene Ontology (GO)

Displaying entries **1 - 5** of 8 in total

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GO Term	Evidence Code	PMID
in utero embryonic development	ISS
mRNA processing	IEA
nervous system development	ISS
RNA splicing	IDA	18335541
embryonic limb morphogenesis	ISS

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

primary metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

organic cyclic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

cellular process [inference]

cellular metabolic process [inference]

cellular aromatic compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

cellular nitrogen compound metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

heterocycle metabolic process [inference]

nucleobase-containing compound metabolic process [inference]

nucleic acid metabolic process [inference]

RNA metabolic process [inference]

RNA processing [inference]

mRNA metabolic process [inference]

mRNA processing

cellular developmental process [inference]

cell differentiation [inference]

myoblast differentiation

multicellular organismal process [inference]

multicellular organism development [inference]

embryo development [inference]

embryo development ending in birth or egg hatching [inference]

chordate embryonic development [inference]

in utero embryonic development

developmental process [inference]

anatomical structure morphogenesis [inference]

appendage morphogenesis [inference]

limb morphogenesis [inference]

embryonic limb morphogenesis

embryonic appendage morphogenesis [inference]

embryonic limb morphogenesis

embryonic morphogenesis [inference]

embryonic appendage morphogenesis [inference]

embryonic limb morphogenesis

anatomical structure development [inference]

multicellular organism development [inference]

embryo development [inference]

embryo development ending in birth or egg hatching [inference]

chordate embryonic development [inference]

in utero embryonic development

system development [inference]

nervous system development

cellular developmental process [inference]

cell differentiation [inference]

myoblast differentiation

biological regulation [inference]

regulation of biological process [inference]

regulation of metabolic process [inference]

regulation of biosynthetic process [inference]

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of RNA splicing

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA splicing

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of RNA splicing

regulation of nitrogen compound metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA splicing

regulation of macromolecule metabolic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of RNA splicing

regulation of RNA metabolic process [inference]

regulation of RNA splicing

regulation of primary metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA splicing

regulation of cellular process [inference]

regulation of cellular metabolic process [inference]

regulation of nucleobase-containing compound metabolic process [inference]

regulation of RNA metabolic process [inference]

regulation of RNA splicing

regulation of cellular biosynthetic process [inference]

regulation of macromolecule biosynthetic process [inference]

regulation of gene expression [inference]

regulation of RNA splicing

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
nucleus	IDA	10970838 15257297 16717059
nucleoplasm	IDA
nucleoplasm	IBA
cytoplasm	IDA	10970838
cytoplasm	IBA

GO Hierarchy

cellular component

cellular anatomical entity [inference]

organelle [inference]

membrane-bounded organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule [inference]

cytoplasmic stress granule

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

nucleus

intracellular non-membrane-bounded organelle [inference]

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule [inference]

cytoplasmic stress granule

supramolecular complex [inference]

ribonucleoprotein granule [inference]

cytoplasmic ribonucleoprotein granule [inference]

cytoplasmic stress granule

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
RNA binding	IDA	15257297 16946708
RNA binding	IBA
RNA binding	HDA	22658674 22681889
double-stranded RNA binding	IDA	10970838
protein binding	IPI	16946708 18335541 25416956 29892012 32814053 37548402

GO Hierarchy

molecular function

binding [inference]

protein binding

ion binding [inference]

cation binding [inference]

metal ion binding

transition metal ion binding [inference]

zinc ion binding

organic cyclic compound binding [inference]

nucleic acid binding [inference]

double-stranded RNA binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

protein muscleblind-like

Functional Category

E: Amino acid transport and metabolism
M: Cell wall/membrane/envelope biogenesis
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
metal ion binding
regulation of RNA splicing

Displaying 1 entry
InterPro
Zinc finger, CCCH-type

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025