Emd emerin [Mus musculus (house mouse)] - Gene

Summary

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Official Symbol: Emdprovided by MGI
Official Full Name: emerinprovided by MGI
Primary source: MGI:108117
Locus tag: RP23-436K3.2
See related: Ensembl:ENSMUSG00000001964; Vega:OTTMUSG00000017684
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Sciurognathi; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sta; AW550900
Summary: This gene is the founding member of the LEM (Lap2beta, Emerin, and Man1) domain gene family. It encodes an integral membrane protein of the inner nuclear membrane. This gene may be involved in transcriptional regulation and genomic organization. In humans, mutations in this gene cause a class of diseases called laminopathies, which includes Emery-Dreifuss muscular dystrophy (EDMD). [provided by RefSeq, Apr 2013]

Genomic context

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Location :: X A7.3; X 37.92 cM

Sequence :: Chromosome: X; NC_000086.7 (74254839..74257747)

See Emd in Epigenomics, MapViewer

Chromosome X - NC_000086.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

Bibliography

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GeneRIFs: Gene References Into Functions What's a GeneRIF?

report significant perturbations in the expression and activation of p38/Mapk14 in emerin-null myogenic progenitors, showing that perturbed expression of Wnt, IGF-1, TGF-beta, and Notch signaling components disrupts normal downstream myogenic signaling
Title: Loss of emerin alters myogenic signaling and miRNA expression in mouse myogenic progenitors.
emerin facilitates repressive chromatin formation at the nuclear periphery by increasing the catalytic activity of HDAC
Title: The nuclear envelope protein emerin binds directly to histone deacetylase 3 (HDAC3) and activates HDAC3 activity.
Perturbation to or total loss of the emerin-beta-catenin complex compromises both intercalated disc function and beta-catenin signalling in cardiomyocytes.
Title: Identification of an emerin-beta-catenin complex in the heart important for intercalated disc architecture and beta-catenin localisation.
These findings suggest roles for emerin as a downstream effector and signal integrator for tyrosine kinase signaling pathway(s) at the nuclear envelope.
Title: Tyrosine phosphorylation of nuclear-membrane protein emerin by Src, Abl and other kinases.
Deregulation of cell signaling contributes to nuclear envelope-linked disorders and suggests that mutations in NET25 and MAN1 may cause muscle diseases.
Title: Overlapping functions of nuclear envelope proteins NET25 (Lem2) and emerin in regulation of extracellular signal-regulated kinase signaling in myoblast differentiation.
Knockdown of A-type lamins and emerin in HeLa and C2C12 stimulated phosphorylation and nuclear translocation of ERK as well as activation of genes encoding downstream transcription factors.
Title: Reduced expression of A-type lamins and emerin activates extracellular signal-regulated kinase in cultured cells.
Data show that both downregulation of LUMA and overexpression of dominant-negative acting LUMA fragments causes redistribution of emerin.
Title: LUMA interacts with emerin and influences its distribution at the inner nuclear membrane.
Emerin deficiency causes minimal motor and cardiac dysfunctions in mice with a structural fragility of myonuclei.
Title: Emerin-lacking mice show minimal motor and cardiac dysfunctions with nuclear-associated vacuoles.
emerin and lamin A/C are bound to actin at the late stages of myotube differentiation
Title: Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts.
Altered nuclear envelope elasticity caused by loss of emerin could contribute to increased nuclear fragility in Emery-Dreifuss muscular dystrophy patients with mutations in the emerin gene.
Title: Mechanical properties of the cell nucleus and the effect of emerin deficiency.

Submit: New GeneRIF Correction See all (12)

Alleles

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

Targeted (knock-out) (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Source	Pubs	Description
BioGRID:199436	BioGRID:200261	Hdac3	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex
BioGRID:199436	BioGRID:201176	Lmna	BioGRID	PubMed	Affinity Capture-MS
BioGRID:199436	BioGRID:202313	Pou5f1	BioGRID	PubMed	Affinity Capture-MS

Pathways from BioSystems

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Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem (from KEGG)
Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem (from KEGG)
Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystemArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart muscle disease that may result in arrhythmia, heart failure, and sudden death. The hallmark pathological findings are prog...
Cell Cycle, organism-specific biosystem (from REACTOME)
Cell Cycle, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Cell Cycle, Mitotic, organism-specific biosystem (from REACTOME)
Cell Cycle, Mitotic, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Clearance of Nuclear Envelope Membranes from Chromatin, organism-specific biosystem (from REACTOME)
Clearance of Nuclear Envelope Membranes from Chromatin, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Dilated cardiomyopathy, organism-specific biosystem (from KEGG)
Dilated cardiomyopathy, organism-specific biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
Dilated cardiomyopathy, conserved biosystem (from KEGG)
Dilated cardiomyopathy, conserved biosystemDilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac d...
Hypertrophic cardiomyopathy (HCM), organism-specific biosystem (from KEGG)
Hypertrophic cardiomyopathy (HCM), organism-specific biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
Hypertrophic cardiomyopathy (HCM), conserved biosystem (from KEGG)
Hypertrophic cardiomyopathy (HCM), conserved biosystemHypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological feat...
Initiation of Nuclear Envelope Reformation, organism-specific biosystem (from REACTOME)
Initiation of Nuclear Envelope Reformation, organism-specific biosystemcomputationally inferred pathway (not manually curated)
M Phase, organism-specific biosystem (from REACTOME)
M Phase, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Mitotic Anaphase, organism-specific biosystem (from REACTOME)
Mitotic Anaphase, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Mitotic Metaphase and Anaphase, organism-specific biosystem (from REACTOME)
Mitotic Metaphase and Anaphase, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Mitotic Prophase, organism-specific biosystem (from REACTOME)
Mitotic Prophase, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Nuclear Envelope Breakdown, organism-specific biosystem (from REACTOME)
Nuclear Envelope Breakdown, organism-specific biosystemcomputationally inferred pathway (not manually curated)
Nuclear Envelope Reassembly, organism-specific biosystem (from REACTOME)
Nuclear Envelope Reassembly, organism-specific biosystemcomputationally inferred pathway (not manually curated)

General gene information

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Homology

Homologs of the Emd gene: The Emd gene is conserved in human, chimpanzee, Rhesus monkey, dog, cow, and rat.
Map Viewer (Human, Rat)
OrthoDB: The Hierarchical Catalog of Eukaryotic Orthologs

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
actin binding	ISO Inferred from Sequence Orthology more info
beta-tubulin binding	ISO Inferred from Sequence Orthology more info
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cellular response to growth factor stimulus	ISO Inferred from Sequence Orthology more info
negative regulation of catenin import into nucleus	ISO Inferred from Sequence Orthology more info
negative regulation of fibroblast proliferation	ISO Inferred from Sequence Orthology more info
positive regulation of protein export from nucleus	ISO Inferred from Sequence Orthology more info
regulation of canonical Wnt receptor signaling pathway	ISO Inferred from Sequence Orthology more info
skeletal muscle cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
skeletal muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
integral to membrane	ISO Inferred from Sequence Orthology more info
membrane	IEA Inferred from Electronic Annotation more info
microtubule	IEA Inferred from Electronic Annotation more info
nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
nuclear envelope	ISO Inferred from Sequence Orthology more info
nuclear inner membrane	TAS Traceable Author Statement more info	PubMed
nuclear lamina	TAS Traceable Author Statement more info	PubMed
nuclear membrane	ISO Inferred from Sequence Orthology more info
nuclear outer membrane	ISO Inferred from Sequence Orthology more info
nucleus	IEA Inferred from Electronic Annotation more info
spindle	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: emerin

Names: emerin

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_007927.3 → NP_031953.1 emerin

Status: REVIEWED

Source sequence(s)

AK160531, AL807376, BY260524, CN694597

Consensus CDS

CCDS30222.1

UniProtKB/Swiss-Prot

O08579

UniProtKB/TrEMBL

Q3UJP3

Related

ENSMUSP00000002029, OTTMUSP00000019267, ENSMUST00000002029, OTTMUST00000042882

Conserved Domains (1) summary

pfam03020
Location:2 – 44
Blast Score: 177

LEM; LEM domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 103

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm38.p1 C57BL/6J

Genomic

NC_000086.7 Reference GRCm38.p1 C57BL/6J

Range

74254839..74257747

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate Mm_Celera

Genomic

AC_000042.1 Alternate Mm_Celera

Range

65508981..65511889

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Nucleotide		Protein	Strain
Heading	Accession and Version	Protein	Strain
genomic	AAHY01212727.1 (8913..11821)	None
genomic	AC091473.2 (175891..178799)	None
genomic	AL807376.4	CAM24330.1
		CAM24331.1
genomic	CH466650.2	EDL29837.1	mixed
genomic	U79753.1	AAB51239.1	129
mRNA	AK146361.1	BAE27112.1	DBA/2
mRNA	AK160531.1	None	C57BL/6J
mRNA	AK167852.1	BAE39870.1	DBA/2
mRNA	AK180037.1	None
mRNA	AK188967.1	None
mRNA	BC132131.1	AAI32132.1
mRNA	BC132133.1	AAI32134.1
mRNA	BY260524.1	None	C57BL/6J
mRNA	CN694597.1	None	C57BL/6J
mRNA	U73902.1	AAD00238.1	ICR x Swiss