protein EMSY (EMSY, C11orf30, GL002)

Function

• transcriptional repressor via interaction with a multiprotein chromatin remodeling complex that modifies chromatin
• interaction with transactivation domain of BRCA2 suggests a role in DNA repair
• interacts with the chromoshadow domain of CBX1
• interacts with ZMYND11
• does not interact with CBX3 or CBX5.

Structure

• homodimer
• contains 1 ENT domain (EMSY N-terminal domain)

Compartment

• nucleus
• localizes to DNA damage markers in irradiated cells
• role in DNA repair

Alternative splicing

named isoforms=3

Pathology

• defects in EMSY may be a cause of sporadic breast cancer & higher-grade ovarian cancers
• overexpressed through amplification almost exclusively in sporadic breast cancer (13%) & higher-grade ovarian cancer (17%)
• amplification is associated with worse survival, especially in node-negative breast cancer

More general terms

• transcriptional silencer (transcriptional repressor)
• phosphoprotein
• glycoprotein

Database

• OMIM: https://mirror.omim.org/entry/608574
• UniProt: http://www.uniprot.org/uniprot/Q7Z589.html