|EMD_HUMAN » Emerin »|
|Hydrophobic Thickness||32.0 ± 1.8 Å|
|Tilt Angle||2 ± 1°|
|Links||UniProtKB, Pfam, Interpro, iHOP, STRING, HGNC, Reactome|
|TM Segments||225-247 (224-249)|
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)|
PLPL6, Complex: EMD:PLPL6
T3JAM, Complex: EMD:T3JAM
|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|