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FLASH GENE
Symbol EMD contributors: mct/pgu - updated : 23-04-2020
HGNC name emerin
HGNC id 3331
Corresponding disease
ATFB13 atrial fibrillation, familial, 13
EMD Emery-Dreifuss muscular dystrophy
Location Xq28      Physical location : 153.607.596 - 153.609.881
Synonym name
  • emerin (Emery-Dreifuss muscular dystrophy)
  • LEM domain containing 5
  • Synonym symbol(s) STA, STAX, LEMD5, EDMD
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text flanked by two copies of 11.3 kb repeat in an inverted orientation observed in 33% females and prone to rearrangement
    STRUCTURE 2.29 kb     6 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see FLNA
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    6 - 1370 29 254 - 1994 7894480
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Skin/Tegumentskin   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectivebone   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion lymph
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophilic
    STRUCTURE
    motifs/domains
  • a N terminal LEM globular domain (LAP2-emerin MAN1) of 40 AAs, and N-terminal region from AA1 to AA132 that is necessary and sufficient for formation of long curvilinear filaments
  • immunoglobulin domain
  • tyrosine-phosphorylation sites critical for interactions of emerin with lamin A, actin or the transcriptional regulators
  • a C terminal hydrophobic anchoring region
  • several serine protein kinase sites
  • HOMOLOGY
    interspecies homolog to murine Emd
    homolog to rattus Emd
    Homologene
    FAMILY
  • LAP2 (lamina-associated protein 2) family
  • CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytoskeleton,microtubule,mitotic spindle
    intracellular,nucleus,nucleoplasm
    intracellular,nucleus,chromatin/chromosome
    intracellular,nuclear envelope,int
    intracellular,nuclear envelope,ext
    text
  • membrane protein type 2, inner nuclear membrane
  • LMNA interacts with EMD at the inner nuclear membrane
  • basic FUNCTION
  • involved in nuclear lamina organization and in the stability and function of rigorously moving nuclei in tissues such as skeletal muscle, heart, joints
  • regulating gene expression in heart and muscle by interacting with specific transcription factors or DNA sequences
  • type II inner nuclear membrane (INM) protein
  • regulate the flux of beta-catenin, an important transcription coactivator, into the nucleus
  • can influence signaling pathways by restricting access of transcription coactivators to the nucleus
  • having functions in cell polarization
  • nuclear-membrane protein with roles in nuclear architecture, gene regulation and signaling
  • having roles as a downstream effector and signal integrator for tyrosine kinase signaling pathway(s) at the nuclear envelope
  • is involved in maintaining the mechanical integrity of the nuclear membrane
  • at the nuclear envelope, the inner nuclear membrane protein EMD contributes to the interface between the nucleoskeleton and the chromatin, and is an essential actor of the nuclear response to a mechanical signal
  • plays likely a crucial role in nuclear structure and in the nuclear Ca2+ transient
  • is a mediator of nuclear shape stability in cancer and destabilization of EMD can promote metastasis
  • remarkable role for LMNA and EMD as modulators of cytoskeletal and chromatin organization in the interphase nucleus
  • LMNA, and EMD modulate subcellular distribution and organization of actin in cells
  • nuclear envelope protein that contributes to genome organization and cell mechanics
  • role of emerin in centrosome positioning
  • mislocalization of LINC complex proteins (SUN1, SUN2, LMNA, EMD, SYNE1) is a significant characteristic of cellular senescence phenotypes and may influence complex events at the nuclear membrane, including trafficking and heterochromatin attachment
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component LMNA, EMD are part of a nuclear sub-complex, that partner with Nuclear Myosin 1 (MYO1C) and actin
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • LMNA, barrier to integration factor (BAF), through the LEM domain
  • interacting with nuclear actin
  • LMO7 positively regulating many EDMD-relevant genes (including emerin)
  • feedback-regulating LMO7
  • molecularly connected with the nuclear lamina, a protein meshwork composed of lamins and lamin-binding proteins underlying the inner nuclear membrane (emerin-prelamin A interplay influences nuclear organization)
  • interacting with SYNE2 (Nesprin-2 and emerin localize to the nuclear enveloppe)
  • binds to and inhibits the activity of LMO7, a transcription factor that regulates the expression of genes implicated in EMD (binding to LMO7 inhibited LMO7 binding to and activation of the MYOD and PAX3 promoters)
  • binds directly to HDAC3, the catalytic subunit of the nuclear co-repressor (NCoR) complex, and recruits HDAC3 to the nuclear periphery
  • EMD functions with MYH10 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
  • negatively regulates NOTCH1 signaling by promoting the retention of the NOTCH1 intracellular domain (NICD) at the nuclear membrane
  • EMD and RAN are direct binding partners of TMEM201, but RAN attenuates the interaction between EMD and TMEM201
  • LMNA domain both directly binds self-assembled EMD and interacts with monomeric EMD LEM domain through the dimeric BANF1 protein
  • STIP1 stabilises EMD and loss of STIP1 alters nuclear structure via EMD degradation
  • TMEM201 binds EMD, which in turn binds to the chromatin protein barrier-to-autointergration factor (BANF1)
  • LMNA, and EMD modulate the nuclear localization of MYO1C
  • LMNA is a modulator of MYO1C localization in cells, as it regulates the stability of EMD-MYO1C interactions
  • LMNA and EMD partner to modulate genome organization via their cytoskeletal interactors actin and MYO1C
  • through its N-terminal LAP2-emerin-MAN1 (LEM)-domain, EMD interacts with the DNA-binding protein barrier-to-autointegration BANF1
  • EMD regulation of HDAC3 activity to affect H4K5 acetylation dynamics is important for myogenic differentiation
  • cell & other
    REGULATION
    Other phosphorylated on serine 49 by protein kinase A
    its function is regulated by multiple tyrosine kinases, including ERBB2, SRC and ABL1, two of which (ERBB2, SRC) regulate striated muscle
    ASSOCIATED DISORDERS
    corresponding disease(s) EMD , ATFB13
    related resource Emery-Dreifuss Muscular Dystrophy, EMD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    at the inner nuclear membrane leads to unprocessed (non-farnesylated) prelamin A aberrant localization only
    tumoral     --over  
    in Papillary thyroid carcinoma (PTC)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cardiovascularaquiredheart failure
    emerin and the nuclear Ca2+ transient are possible therapeutic targets in heart failure and EMD
    ANIMAL & CELL MODELS