InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: EMD

Summary

InnateDB Protein

IDBP-91215.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

EMD

Protein Name

emerin

Synonyms

EDMD; LEMD5; STA;

Species

Homo sapiens

Ensembl Protein

ENSP00000358857

InnateDB Gene

IDBG-91213 (EMD)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:15328537, ECO:0000269PubMed:16680152, ECO:0000269PubMed:16858403, ECO:0000269PubMed:17785515, ECO:0000269PubMed:19323649}.

Subcellular Localization

Nucleus inner membrane; Single-pass membrane protein; Nucleoplasmic side. Nucleus outer membrane. Note=Colocalized with BANF1 at the central region of the assembling nuclear rim, near spindle-attachment sites. The accumulation of different intermediates of prelamin-A/C (non- farnesylated or carboxymethylated farnesylated prelamin-A/C) in fibroblasts modify its localization in the nucleus.

Disease Associations

Emery-Dreifuss muscular dystrophy 1, X-linked (EDMD1) [MIM:310300]: 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. {ECO:0000269PubMed:10323252, ECO:0000269PubMed:11587540}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Skeletal muscle, heart, colon, testis, ovary and pancreas.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 148 experimentally validated interaction(s) in this database.
They are also associated with 3 interaction(s) predicted by orthology.

Experimentally validated
Total	148 [view]
Protein-Protein	146 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	3 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003779	actin binding
GO:0005515	protein binding
GO:0048487	beta-tubulin binding

Biological Process

GO:0000278	mitotic cell cycle
GO:0006936	muscle contraction
GO:0007077	mitotic nuclear envelope disassembly
GO:0007084	mitotic nuclear envelope reassembly
GO:0007517	muscle organ development
GO:0035414	negative regulation of catenin import into nucleus
GO:0035914	skeletal muscle cell differentiation
GO:0046827	positive regulation of protein export from nucleus
GO:0048147	negative regulation of fibroblast proliferation
GO:0060828	regulation of canonical Wnt signaling pathway
GO:0071363	cellular response to growth factor stimulus

Cellular Component

GO:0005634	nucleus
GO:0005635	nuclear envelope
GO:0005637	nuclear inner membrane
GO:0005640	nuclear outer membrane
GO:0005783	endoplasmic reticulum
GO:0005874	microtubule
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0031965	nuclear membrane