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protein EMSY (EMSY, C11orf30, GL002)
Function:
1) transcriptional repressor via interaction with a multiprotein chromatin remodeling complex that modifies chromatin
2) interaction with transactivation domain of BRCA2 suggests a role in DNA repair
3) interacts with the chromoshadow domain of CBX1
4) interacts with ZMYND11
5) 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
General
glycoprotein
phosphoprotein
transcriptional silencer (transcriptional repressor)
Properties
SIZE: MW = 141 kD
entity length = 1322 aa
COMPARTMENT: cell nucleus
MOTIF: interaction with BRCA2 {1-478}
MOTIF: ENT {16-100}
interaction with ZMYND11 {104-108}
serine-rich region {209-213}
MOTIF: serine residue (SEVERAL)
Ser phosphorylation site {S209}
Ser glycosylation site {S228}
Ser phosphorylation site {S238}
serine-rich region {326-391}
MOTIF: serine residue (SEVERAL)
glutamine-rich region {395-464}
MOTIF: glutamine residue (SEVERAL)
threonine-rich region {496-636}
MOTIF: threonine residue (SEVERAL)
serine-rich region {719-723}
MOTIF: serine residue (SEVERAL)
glutamine-rich region {945-1099}
MOTIF: glutamine residue (SEVERAL)
Ser phosphorylation site {S1136}
Database Correlations
OMIM 608574
UniProt Q7Z589
Pfam PF03735
References
- UniProt :accession Q7Z589
- Atlas of Genetics and Cytogenetics in Oncology and Haematology
http://atlasgeneticsoncology.org/Genes/C11ORF30ID173.html
Component-of
histone H3-specific methyltransferase complex