Property Summary

NCBI Gene PubMed Count 98
PubMed Score 617.58
PubTator Score 278.96

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
diabetes mellitus -1.200 2.1e-03

Protein-protein Interaction (3)

Gene RIF (56)

PMID Text
25502304 X-linked Emery-Dreifuss muscular dystrophy may occur along with dilative cardiomyopathy.
25052089 Association of emerin with nuclear BAF in cells required the LEM domain (residues 1-47).
24997722 Findings show a novel EMD deletion causing rare clinical presentations which broaden the heterogeneous spectrum of phenotypes attributed to EMD mutations and provide new insight of genotype-phenotype correlations between EMD mutations and EDMD symptoms.
24950247 the nucleoplasmic domains of Samp1 and Emerin can bind directly to each other.
24819607 These data suggest a new role of EMD as an enhancer of autophagosome formation in the C16-ceramide autophagy pathway in colon cancer cells.
24375709 Results highlight the interactions at the nuclear envelope where mutations in the EMD and TMPO gene in combination with mutations in SUN1 have an impact on several components of the network.
24014020 Emerin and BAF associated only in histone- and lamin-B-containing fractions. The S173D mutation specifically and selectively reduced GFP-emerin association with BAF by 58%
23873439 Emerin, a conserved LEM-domain protein, is among the few nuclear membrane proteins for which extensive basic knowledge--biochemistry, partners, functions, localizations, posttranslational regulation, roles in development and links to human disease
23623980 Immunofluorescence assay and biochemical analysis of infected or transfected cells showed that Kaposi's sarcoma-associated herpesvirus p29 expression resulted in delocalization and hyperphosphorylation of emerin.
22480903 Genetic testing identified the mutation in the EMD gene, confirming X-linked recessive (XR) EDMD. The patient's asymptomatic mother was confirmed as a carrier.
21697856 Data augment the number of EMD mutations by 13.8%, equating to an increase of 5.2% in the total known EMD mutations and to an increase of 6.0% in the number of different mutations.
21486941 Data provide evidence that 4.1R has functional interactions with emerin and A-type lamin that impact upon nuclear architecture, centrosome-nuclear envelope association and the regulation of beta-catenin transcriptional co-activator activity.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20474083 Observational study of genetic testing. (HuGE Navigator)
20054742 Certain patients presenting a typical EDMD phenotype in which no mutations in the EMD or LMNA genes can be confirmed. This may indicate that an Emery-Dreifuss-like dystrophy could also be associated with mutations in other genes.
19913121 Observational study of gene-disease association. (HuGE Navigator)
19789182 These findings suggest roles for emerin as a downstream effector and signal integrator for tyrosine kinase signaling pathway(s) at the nuclear envelope.
19759913 BAF and emerin have dynamic roles in genome integrity and might help couple DNA damage responses to the nuclear lamina network
19727227 An association of Mel18 with emerin was observed in Hutchinson-Gilford progeria syndrome, but not in WT cells.
19454010 Interaction of HIV-1 Tat with emerin in T-cells is identified by a proteomic strategy based on affinity chromatography
19323649 Non-farnesylated and farnesylated carboxymethylated lamin A precursors in human fibroblasts modifies emerin localization.
19302538 Decoration of the NM by emerin represents an original approach to identify papillary thyroid carcinomas nuclear shape
19126678 process of adipogenesis is affected by a dynamic link between complexes of emerin and lamins A/C at the nuclear envelope and nucleocytoplasmic distribution of beta-catenin, to influence cellular plasticity and differentiation.
19022376 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.
18646565 Mutations in the genes for nuclear envelope proteins of emerin (EMD) and lamin A/C (LMNA) are known to cause Emery-Dreifuss muscular dystrophy (EDMD) and limb girdle muscular dystrophy (LGMD).
18400857 emerin is dispensable for HIV-1 infections.
18266676 mutation of EMD can underlie X-linked familial atrial fibrillation; Lys37del is associated with epithelial cell emerin deficiency, as in Emery-Dreifuss muscular dystrophy, yet it causes electrical atriomyopathy in the absence of skeletal muscle disease
17785515 significant fraction of emerin is located at the outer nuclear membrane and peripheral ER, where it interacts directly with the centrosome.
17652388 The results suggest a model in which pUS3 and PKCdelta that has been recruited by pUL34 hyperphosphorylate emerin, leading to disruption of its connections with lamin proteins and contributing to the disruption of the nuclear lamina.
17620497 Mutations in EMD may indicate a limb-girdle muscular dystrophy phenotype. Identification of emerin deficiency among patients with limb-girdle muscular dystrophy is essential to prevent cardiac catastrophe.
17536044 findings highlight the crucial role of lamin A/C-emerin interactions, with evidence for synergistic effects of these mutations that lead to Emery-Dreifuss muscular dystrophy as the worsened result of digenic mechanism in this family
17462627 The characterisation of the residues both in emerin and in nesprin-1alpha and -2beta which are involved in their interaction is reported.
17117676 Neither emerin nor LMNA mutations in a subset of families with EDMD-like phenotypes that may imply an existence of other genes causing similar disorders.
17097067 Mislocalization of emerin to the endoplasmic reticulum in human cells lacking A-type lamins leads to its degradation and provides the first evidence that its degradation is mediated by the proteasome.
17067998 Lmo7 positively regulates many EDMD-relevant genes (including emerin), and is feedback-regulated by binding to emerin.
16997877 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.
16858403 Emerin regulates the flux of beta-catenin, an important transcription coactivator, into the nucleus.
16823856 We found that in inclusion-body myositis (IBM) muscle vacuoles were immunoreactive for the inner nuclear membrane proteins emerin and lamin A/C.
16761279 Review summarizes growing evidence that emerin has both architectural and gene-regulatory roles in the nucleus which may contribute to the pathology and mechanism of Emery-Dreifuss muscular dystrophy.
16738646 Interaction of HIV-1 Tat with emerin in T-cells is identified by a proteomic strategy based on affinity chromatography
16680152 emerin, an integral inner-nuclear-envelope protein, is necessary for HIV-1 infection
16680152 Interaction of HIV-1 Tat with emerin in T-cells is identified by a proteomic strategy based on affinity chromatography
16481476 Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation, with deficient cells displaying delayed differentiation kinetics that may underlie dystrophic phenotypes.
16371512 Ser-4 phosphorylation inhibits BAF binding to emerin and lamin A, and thereby weakens emerin-lamin interactions during both mitosis and interphase.
16283426 We show that epitope masking in the nucleus is often responsible for failure to detect emerin in human and rat tissues. Pig spleen had fewer emerin-positive nuclei than lung (5% vs. 32%), although their emerin content was similar by Western blotting.
16246140 Data show that chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations.
16204256 phosphorylation at Ser175 regulates the dissociation of emerin from BAF
15681850 Data describe the direct binding of the nuclear membrane protein MAN1 to emerin in vitro.
15328537 emerin may disrupt transcription factors and nuclear envelope architecture by weakening a nuclear actin network
15109603 Data describe the mobility of barrier-to-autointegration factor to its partners emerin, LAP2 beta, and MAN1 in the nuclear membrane of living HeLa cells.
15009215 These results suggest that Btf localization is regulated by apoptotic signals, and that loss of emerin binding to Btf may be relevant to muscle wasting in Emery-Dreifuss muscular dystrophy.
12783988 the lamin a-emerin complex might have a role in muscular dystrophy and cardiomyopathy
12755701 emerin has a regulatory role, as well as a structural role in the cell nucleus
12493765 emerin binds directly to a transcriptional repressor, GCL, and the emerin-repressor complexes might be regulated by barrier to autointegration factor
11973618 genes known to be responsible for Emery-Dreifuss muscular dystrophy
11792821 Disease-linked emerin proteins all remain active for binding directly to barrier-to-autointegration factor (BAF) both in vitro and in vivo, suggesting that disease results from loss of interactions between emerin and lamin A or putative novel partner(s).

AA Sequence

MDNYADLSDTELTTLLRRYNIPHGPVVGSTRRLYEKKIFEYETQRRRLSPPSSSAASSYSFSDLNSTRGD      1 - 70
ADMYDLPKKEDALLYQSKGYNDDYYEESYFTTRTYGEPESAGPSRAVRQSVTSFPDADAFHHQVHDDDLL     71 - 140
SSSEEECKDRERPMYGRDSAYQSITHYRPVSASRSSLDLSYYPTSSSTSFMSSSSSSSSWLTRRAIRPEN    141 - 210
RAPGAGLGQDRQVPLWGQLLLFLVFVIVLFFIYHFMQAEEGNPF                              211 - 254
//

Text Mined References (113)

PMID Year Title
27107012 2016 Pooled-matrix protein interaction screens using Barcode Fusion Genetics.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25502304 2015 Dilated, arrhythmogenic cardiomyopathy in emery-dreifuss muscular dystrophy due to the emerin splice-site mutation c.449 + 1G>A.
25468996 2014 E-cadherin interactome complexity and robustness resolved by quantitative proteomics.
25416956 2014 A proteome-scale map of the human interactome network.
25052089 2014 The molecular basis of emerin-emerin and emerin-BAF interactions.
24997722 2014 Whole exome sequencing identifies a novel EMD mutation in a Chinese family with dilated cardiomyopathy.
24950247 2014 MCLIP, an effective method to detect interactions of transmembrane proteins of the nuclear envelope in live cells.
24819607 2014 New role for EMD (emerin), a key inner nuclear membrane protein, as an enhancer of autophagosome formation in the C16-ceramide autophagy pathway.
24375709 2014 Contribution of SUN1 mutations to the pathomechanism in muscular dystrophies.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
24014020 2013 O-Linked ?-N-acetylglucosamine (O-GlcNAc) regulates emerin binding to barrier to autointegration factor (BAF) in a chromatin- and lamin B-enriched "niche".
23873439 The nuclear envelope LEM-domain protein emerin.
23623980 2013 KSHV ORF67 encoded lytic protein localizes on the nuclear membrane and alters emerin distribution.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22480903 Emery-Dreifuss humeroperoneal muscular dystrophy: cardiac manifestations.
22399800 2012 The endonuclease Ankle1 requires its LEM and GIY-YIG motifs for DNA cleavage in vivo.
22223895 2012 Comparative large scale characterization of plant versus mammal proteins reveals similar and idiosyncratic N-?-acetylation features.
21697856 2011 Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.
21486941 2011 Structural protein 4.1R is integrally involved in nuclear envelope protein localization, centrosome-nucleus association and transcriptional signaling.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20474083 2010 A novel custom resequencing array for dilated cardiomyopathy.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20054742 Emery-Dreifuss dystrophy: a 4-year follow-up on a laminopathy of special interest.
19946888 2010 Defining the membrane proteome of NK cells.
19933576 2010 Mammalian SUN protein interaction networks at the inner nuclear membrane and their role in laminopathy disease processes.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19789182 2009 Tyrosine phosphorylation of nuclear-membrane protein emerin by Src, Abl and other kinases.
19759913 2009 Barrier-to-autointegration factor proteome reveals chromatin-regulatory partners.
19727227 2009 Association of progerin-interactive partner proteins with lamina proteins: Mel18 is associated with emerin in HGPS.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
19369195 2009 Large-scale proteomics analysis of the human kinome.
19323649 2009 Emerin-prelamin A interplay in human fibroblasts.
19302538 2009 Emerin immunohistochemistry reveals diagnostic features of nuclear membrane arrangement in thyroid lesions.
19167377 2009 Involvement of an inner nuclear membrane protein, Nemp1, in Xenopus neural development through an interaction with the chromatin protein BAF.
19126678 2009 Dynamic complexes of A-type lamins and emerin influence adipogenic capacity of the cell via nucleocytoplasmic distribution of beta-catenin.
19022376 2009 Reduced expression of A-type lamins and emerin activates extracellular signal-regulated kinase in cultured cells.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
18646565 2007 Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan.
18400857 2008 The LEM domain proteins emerin and LAP2alpha are dispensable for human immunodeficiency virus type 1 and murine leukemia virus infections.
18266676 2008 X-linked nonsyndromic sinus node dysfunction and atrial fibrillation caused by emerin mutation.
18220336 2008 Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17785515 2007 A novel role for the nuclear membrane protein emerin in association of the centrosome to the outer nuclear membrane.
17652388 2007 Emerin is hyperphosphorylated and redistributed in herpes simplex virus type 1-infected cells in a manner dependent on both UL34 and US3.
17620497 2007 Limb-girdle muscular dystrophy due to emerin gene mutations.
17536044 2007 Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
17462627 2007 Distinct functional domains in nesprin-1alpha and nesprin-2beta bind directly to emerin and both interactions are disrupted in X-linked Emery-Dreifuss muscular dystrophy.
17117676 2006 [Clinical, genealogical and molecular genetic study of Emery-Dreifuss muscular dystrophy].
17097067 2006 Proteasome-mediated degradation of integral inner nuclear membrane protein emerin in fibroblasts lacking A-type lamins.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
17067998 2006 Lmo7 is an emerin-binding protein that regulates the transcription of emerin and many other muscle-relevant genes.
16997877 2006 Mechanical properties of the cell nucleus and the effect of emerin deficiency.
16972941 2006 The Emery-Dreifuss muscular dystrophy associated-protein emerin is phosphorylated on serine 49 by protein kinase A.
16858403 2006 The inner nuclear membrane protein emerin regulates beta-catenin activity by restricting its accumulation in the nucleus.
16823856 2006 Nuclear membrane proteins are present within rimmed vacuoles in inclusion-body myositis.
16761279 2006 Multiple roles for emerin: implications for Emery-Dreifuss muscular dystrophy.
16680152 2006 The inner-nuclear-envelope protein emerin regulates HIV-1 infectivity.
16481476 2006 Lamin A/C and emerin are critical for skeletal muscle satellite cell differentiation.
16381901 2006 The LIFEdb database in 2006.
16371512 2006 Barrier-to-autointegration factor phosphorylation on Ser-4 regulates emerin binding to lamin A in vitro and emerin localization in vivo.
16283426 2005 The apparent absence of lamin B1 and emerin in many tissue nuclei is due to epitope masking.
16246140 2005 Chromosome positioning is largely unaffected in lymphoblastoid cell lines containing emerin or A-type lamin mutations.
16212419 Phosphoproteome analysis of HeLa cells using stable isotope labeling with amino acids in cell culture (SILAC).
16204256 2005 Dissociation of emerin from barrier-to-autointegration factor is regulated through mitotic phosphorylation of emerin in a xenopus egg cell-free system.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
16169070 2005 A human protein-protein interaction network: a resource for annotating the proteome.
16094384 2005 Quantitative phosphoproteome analysis using a dendrimer conjugation chemistry and tandem mass spectrometry.
15772651 2005 The DNA sequence of the human X chromosome.
15681850 2005 Direct binding of nuclear membrane protein MAN1 to emerin in vitro and two modes of binding to barrier-to-autointegration factor.
15671068 2005 Nesprin-2 is a multi-isomeric protein that binds lamin and emerin at the nuclear envelope and forms a subcellular network in skeletal muscle.
15592455 2005 Immunoaffinity profiling of tyrosine phosphorylation in cancer cells.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15328537 2004 Emerin caps the pointed end of actin filaments: evidence for an actin cortical network at the nuclear inner membrane.
15144186 2004 Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry.
15109603 2004 Dynamic interaction between BAF and emerin revealed by FRAP, FLIP, and FRET analyses in living HeLa cells.
15009215 2004 Emerin binding to Btf, a death-promoting transcriptional repressor, is disrupted by a missense mutation that causes Emery-Dreifuss muscular dystrophy.
12783988 2003 Effect of pathogenic mis-sense mutations in lamin A on its interaction with emerin in vivo.
12755701 2003 Emerin interacts in vitro with the splicing-associated factor, YT521-B.
12670476 2003 Association of emerin with nuclear and cytoplasmic actin is regulated in differentiating myoblasts.
12665801 2003 Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.
12493765 2003 Transcriptional repressor germ cell-less (GCL) and barrier to autointegration factor (BAF) compete for binding to emerin in vitro.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12163176 2002 Nesprin-1alpha self-associates and binds directly to emerin and lamin A in vitro.
11973618 2002 Emery-Dreifuss muscular dystrophy.
11792822 2001 BAF is required for emerin assembly into the reforming nuclear envelope.
11792821 2001 Distinct functional domains in emerin bind lamin A and DNA-bridging protein BAF.
11587540 2001 How does a g993t mutation in the emerin gene cause Emery-Dreifuss muscular dystrophy?
11470279 2001 Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy.
11435115 2001 Structural characterization of the LEM motif common to three human inner nuclear membrane proteins.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11173535 2001 Interaction between emerin and nuclear lamins.
11076863 2000 DNA cloning using in vitro site-specific recombination.
11034899 2000 HA95 is a protein of the chromatin and nuclear matrix regulating nuclear envelope dynamics.
10965799 2000 Emerin presence in platelets.
10673356 2000 Direct interaction between emerin and lamin A.
10323252 1999 Changes at P183 of emerin weaken its protein-protein interactions resulting in X-linked Emery-Dreifuss muscular dystrophy.
9673989 1998 Immunocytochemical detection of emerin within the nuclear matrix.
9472006 1998 Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype.
9442884 1997 Nuclear assembly.
9361031 1997 Heart-specific localization of emerin: new insights into Emery-Dreifuss muscular dystrophy.
8733135 1996 Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci.
8655156 1996 A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy.
8595407 1995 Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease.
8589715 1996 Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy.
8248200 1993 Transcriptional organization of a 450-kb region of the human X chromosome in Xq28.
7894480 1994 Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy.