Mbnl3 muscleblind like splicing factor 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Mbnl3provided by MGI
Official Full Name: muscleblind like splicing factor 3provided by MGI
Primary source: MGI:MGI:2444912
See related: Ensembl:ENSMUSG00000036109 AllianceGenome:MGI:2444912
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: CHCR; MBLX; MBXL; MBLX39; A530038J18Rik; E430034C16Rik
Summary: Predicted to enable RNA binding activity. Acts upstream of or within negative regulation of myoblast differentiation. Predicted to be located in nucleus. Predicted to be active in cytoplasm and nucleoplasm. Is expressed in several structures, including 1st branchial arch; early conceptus; genitourinary system; hemolymphoid system gland; and sensory organ. Orthologous to human MBNL3 (muscleblind like splicing regulator 3). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in placenta adult (RPKM 12.8), genital fat pad adult (RPKM 8.0) and 9 other tissues See more
Orthologs: human all
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Genomic context

Location:: X; X A5

Exon count:: 14

Annotation release	Status	Assembly	Chr	Location
109	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (50202371..50294867, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (51113494..51205990, complement)

Chromosome X - NC_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Loss of Mbnl3 expression is associated with myotonic dystrophy.
Title: Muscleblind-like 3 deficit results in a spectrum of age-associated pathologies observed in myotonic dystrophy.
by inhibiting the expression of miR-674 and miR-155, H9N2 avian influenza virus neuraminidase lost the ability to promote dendritic cell maturation
Title: MiR674 inhibits the neuraminidase-stimulated immune response on dendritic cells via down-regulated Mbnl3.
Data show that Muscleblind-like 1 (Mbnl1) and Muscleblind-Like 3 (Mbnl3) bind skeletal muscle chloride channel CIC-1 (Clc-1) mRNA.
Title: Muscleblind-Like 1 and Muscleblind-Like 3 Depletion Synergistically Enhances Myotonia by Altering Clc-1 RNA Translation.
depletion of Mbnl proteins in mouse embryo fibroblasts leads to misregulation of thousands of alternative polyadenylation events.
Title: Loss of MBNL leads to disruption of developmentally regulated alternative polyadenylation in RNA-mediated disease.
study reports Mbnl3, which encodes protein isoforms that differ in the number of tandem zinc-finger RNA-binding motifs and subcellular localization, is expressed primarily during embryonic development but also transiently during injury-induced adult skeletal muscle regeneration
Title: Progressive impairment of muscle regeneration in muscleblind-like 3 isoform knockout mice.
Punctate localization pattern of MBNL3 within interchromatin regions of the nucleus is highly predictive of proteins involved in pre-mRNA processing.
Title: Monoclonal antibodies against Muscleblind-like 3, a protein with punctate nuclear localization.
RNA-binding protein Muscleblind-like 3 (MBNL3) disrupts myocyte enhancer factor 2 (Mef2) {beta}-exon splicing
Title: RNA-binding protein Muscleblind-like 3 (MBNL3) disrupts myocyte enhancer factor 2 (Mef2) {beta}-exon splicing.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (2) 1 citation
Endonuclease-mediated (2)

General gene information

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Homology

Homologs of the Mbnl3 gene: The Mbnl3 gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, rat, chicken, zebrafish, fruit fly, and frog.
Orthologs from Annotation Pipeline: 317 organisms have orthologs with human gene Mbnl3
Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA binding	IBA Inferred from Biological aspect of Ancestor more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within RNA splicing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within mRNA processing	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within multicellular organism development	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within negative regulation of myoblast differentiation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of RNA splicing	IBA Inferred from Biological aspect of Ancestor more info	PubMed
involved_in regulation of RNA splicing	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info	PubMed

General protein information

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Preferred Names: muscleblind-like protein 3

Names: cys3His CCG1-required protein; muscleblind-like 3; muscleblind-like X-linked protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001310515.1 → NP_001297444.1 muscleblind-like protein 3 isoform 2

See identical proteins and their annotated locations for NP_001297444.1

Status: VALIDATED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream start codon, compared to variant 1. The encoded protein (isoform 2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AK040522, AL671848, AL844490

Consensus CDS

CCDS81126.1

UniProtKB/TrEMBL

Q3TJQ3, Q8BYC7

Related

ENSMUSP00000110525.2, ENSMUST00000114875.8

Conserved Domains (1) summary

smart00356
Location:80 → 104

ZnF_C3H1; zinc finger
NM_134163.5 → NP_598924.1 muscleblind-like protein 3 isoform 1

See identical proteins and their annotated locations for NP_598924.1

Status: VALIDATED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AK040522, AL671848, AL844490

Consensus CDS

CCDS40969.1

UniProtKB/Swiss-Prot

Q8R003

UniProtKB/TrEMBL

Q542D8, Q8BYC7

Related

ENSMUSP00000110526.3, ENSMUST00000114876.9

Conserved Domains (1) summary

smart00356
Location:176 → 200

ZnF_C3H1; zinc finger