EMD_HUMAN » Emerin

EMD_HUMAN » Emerin
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Topology in Nuclear inner membrane
Topologyintermembrane space
nucleus matrix side
EMD_HUMAN » Emerin »
Hydrophobic Thickness 32.0 ± 1.8 Å
Tilt Angle 2 ± 1°
ΔGtransfer -43.8 kcal/mol
ΔGfold -23.2 kcal/mol
Links UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, Reactome
Topology In
TM Segments 225-247 (224-249)
Pathways

Arrhythmogenic right ventricular cardiomyopathy (KEGG)

Cell Cycle (Reactome)

Dilated cardiomyopathy (KEGG)

Hypertrophic cardiomyopathy (KEGG)

Mitotic M-M/G1 phases (Reactome)

PDB 2odc (2-47), 1jei (2-54), 2odg (C=2-47)
OPM none
Complexes none
Interactions

CREB3, Complex: CREB3:EMD, PubMed

EGFR, Complex: EGFR:EMD, PubMed

EGF, Complex: EMD:EGF, PubMed

ESR1, Complex: EMD:ESR1, PubMed

FATE1, Complex: FATE1:EMD, PubMed

PLPL6, Complex: EMD:PLPL6

SUN2, Complex: SUN2:EMD, PubMed

SYNE1, Complex: SYNE1:EMD, PubMed

T3JAM, Complex: EMD:T3JAM

VCAM1, Complex: VCAM1:EMD, PubMed

Domains

AA: 3-42, PDBID: 1JEI, Subunit A, Seq Identity:100%, LEM domain

UniProt annotation for EMD_HUMAN » Emerin
FUNCTION: Stabilizes and promotes the formation of a nuclear actin cortical network. Stimulates actin polymerization in vitro by binding and stabilizing the pointed end of growing filaments. Inhibits beta-catenin activity by preventing its accumulation in the nucleus. Acts by influencing the nuclear accumulation of beta- catenin through a CRM1-dependent export pathway. Links centrosomes to the nuclear envelope via a microtubule association. EMD and BAF are cooperative cofactors of HIV-1 infection. Association of EMD with the viral DNA requires the presence of BAF and viral integrase. The association of viral DNA with chromatin requires the presence of BAF and EMD. Required for proper localization of non-farnesylated prelamin-A/C.

SUBUNIT: Interacts with lamins A and C, BANF1, GMCL, BCLAF1 and YTHDC1/YT521. Interacts with TMEM43; the interaction retains emerin in the nuclear inner membrane. Interacts with SUN1 and SUN2 (By similarity). Interacts with ACTB, SPTAN1, F-actin, CTNNB1 and beta-tubulin.

TISSUE SPECIFICITY: Skeletal muscle, heart, colon, testis, ovary and pancreas.

DISEASE: Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) OMIM: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. Note=The disease is caused by mutations affecting the gene represented in this entry.

UniProt features for EMD_HUMAN » Emerin
CHAIN 1 254 Emerin.
DOMAIN 1 45 LEM.
REGION 46 222 Interaction with F-actin (Probable).
REGION 168 186 Interaction with CTNNB1.
Amino Acid Sequence for EMD_HUMAN » Emerin
MDNYADLSDT ELTTLLRRYN IPHGPVVGST RRLYEKKIFE YETQRRRLSP PSSSAASSYS FSDLNSTRGD ADMYDLPKKE DALLYQSKGY NDDYYEESYF TTRTYGEPES AGPSRAVRQS VTSFPDADAF HHQVHDDDLL SSSEEECKDR ERPMYGRDSA YQSITHYRPV SASRSSLDLS YYPTSSSTSF MSSSSSSSSW LTRRAIRPEN RAPGAGLGQD RQVPLWGQLL LFLVFVIVLF FIYHFMQAEE GNPF