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

Summary

Official Symbol: Emdprovided by MGI
Official Full Name: emerinprovided by MGI
Primary source: MGI:MGI:108117
See related: Ensembl:ENSMUSG00000001964 AllianceGenome:MGI:108117
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Sta
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]
Expression: Ubiquitous expression in bladder adult (RPKM 25.9), limb E14.5 (RPKM 24.1) and 28 other tissues See more
Orthologs: human all
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Genomic context

Location:: X A7.3; X 37.92 cM

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	X	NC_000086.8 (73298297..73305188)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	X	NC_000086.7 (74254674..74261563)

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery-Dreifuss muscular dystrophy caused by an LMNA gene mutation.
Title: Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery-Dreifuss muscular dystrophy caused by an LMNA gene mutation.
Postnatal development of mice with combined genetic depletions of lamin A/C, emerin and lamina-associated polypeptide 1.
Title: Postnatal development of mice with combined genetic depletions of lamin A/C, emerin and lamina-associated polypeptide 1.
The authors uncovered evidence for selective, vesicular transport-mediated turnover of a single inner nuclear membrane protein, emerin, that is potentiated by endoplasmic reticulum stress. Emerin is rapidly cleared from the inner nuclear membrane by a mechanism that requires emerin's LEM domain to mediate vesicular trafficking to lysosomes.
Title: Selective clearance of the inner nuclear membrane protein emerin by vesicular transport during ER stress.
Roles of emerin and lamin A/C in satellite cells function and regeneration of muscle fiber were also evaluated by cardiotoxin-induced muscle injury.
Title: Deficiency of emerin contributes differently to the pathogenesis of skeletal and cardiac muscles in LmnaH222P/H222P mutant mice.
these data indicate that Emerin, a conserved nuclear lamina protein, couples extracellular matrix mechanics and SRF-Mkl1-dependent transcription.
Title: Substrate stiffness-dependent regulation of the SRF-Mkl1 co-activator complex requires the inner nuclear membrane protein Emerin.
Emerin-null progenitors were delayed in their cell cycle exit, had decreased myosin heavy chain (MyHC) expression and formed fewer myotubes. Emerin binds to and activates histone deacetylase 3 (HDAC3).
Title: MAPK signaling pathways and HDAC3 activity are disrupted during differentiation of emerin-null myogenic progenitor cells.
changes in nuclear size and shape, which are mediated by nuclear envelope structural proteins lamin A/C and/or emerin, also impact gene regulation and lineage differentiation in early embryos.
Title: Nuclear envelope structural proteins facilitate nuclear shape changes accompanying embryonic differentiation and fidelity of gene expression.
Results suggest that emerin protein is an essential component of the cellular apparatus constraining and fine-tuning Wnt/b-catenin signaling in the heart providing tight control of cardiomyocyte numbers.
Title: Attenuation of Wnt/β-catenin activity reverses enhanced generation of cardiomyocytes and cardiac defects caused by the loss of emerin.
emerin functions with myosin IIB to polarize actin flow and nuclear movement in fibroblasts, suggesting a novel function for the nuclear envelope in organizing directional actin flow and cytoplasmic polarity.
Title: Emerin organizes actin flow for nuclear movement and centrosome orientation in migrating fibroblasts.
Interactions between HDAC3 and Emerin mediate the interaction of myogenic regulatory loci with the nuclear lamina.
Title: Emerin and histone deacetylase 3 (HDAC3) cooperatively regulate expression and nuclear positions of MyoD, Myf5, and Pax7 genes during myogenesis.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables actin binding	IBA Inferred from Biological aspect of Ancestor more info
enables actin binding	IEA Inferred from Electronic Annotation more info
enables actin binding	ISO Inferred from Sequence Orthology more info
enables beta-tubulin binding	IBA Inferred from Biological aspect of Ancestor more info
enables beta-tubulin binding	IEA Inferred from Electronic Annotation more info
enables beta-tubulin binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cellular response to growth factor stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to growth factor stimulus	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of canonical Wnt signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of canonical Wnt signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of fibroblast proliferation	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of fibroblast proliferation	ISO Inferred from Sequence Orthology more info
involved_in nuclear membrane organization	IEA Inferred from Electronic Annotation more info
involved_in nuclear membrane organization	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of protein export from nucleus	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of protein export from nucleus	ISO Inferred from Sequence Orthology more info
involved_in regulation of canonical Wnt signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within skeletal muscle cell differentiation	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within skeletal muscle cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in TMEM240-body	IDA Inferred from Direct Assay more info	PubMed
located_in cortical endoplasmic reticulum	IEA Inferred from Electronic Annotation more info
colocalizes_with cortical endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endoplasmic reticulum	ISO Inferred from Sequence Orthology more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
located_in nuclear envelope	IDA Inferred from Direct Assay more info	PubMed
colocalizes_with nuclear envelope	ISO Inferred from Sequence Orthology more info
located_in nuclear envelope	ISO Inferred from Sequence Orthology more info
is_active_in nuclear inner membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in nuclear inner membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear inner membrane	TAS Traceable Author Statement more info	PubMed
located_in nuclear lamina	TAS Traceable Author Statement more info	PubMed
located_in nuclear membrane	IDA Inferred from Direct Assay more info	PubMed
located_in nuclear membrane	ISO Inferred from Sequence Orthology more info
located_in nuclear outer membrane	IEA Inferred from Electronic Annotation more info
located_in nuclear outer membrane	ISO Inferred from Sequence Orthology more info
located_in nucleoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
is_active_in spindle	IBA Inferred from Biological aspect of Ancestor more info
located_in spindle pole centrosome	IEA Inferred from Electronic Annotation more info
colocalizes_with spindle pole centrosome	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred 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.