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FLASH GENE

Symbol

EMD

contributors: mct/pgu - updated : 23-04-2020

HGNC name	emerin
HGNC id	3331

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000117 6 - 1370 NP_000108 29 254 - 1994 7894480

EXPRESSION

Type

widely

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Skin/Tegument skin       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone       Muscular striatum skeletal

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed cardiovascular aquired heart failure emerin and the nuclear Ca2+ transient are possible therapeutic targets in heart failure and EMD

ANIMAL & CELL MODELS