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BCL-6 corepressor (BCoR, KIAA1575)
Function:
1) transcriptional corepressor.
2) inhibits gene expression when recruited to promoter regions by sequence specific DNA-binding proteins, including BCL6 & MLLT3
3) associates with histone deacetylase
4) isoform 1 interacts with MLLT3/AF9
5) interacts with BCL6, HDAC1, HDAC3, HDAC5
Structure:
- contains 3 ANK repeats
Compartment: nucleus
Alternative splicing: named isoforms=4
Expression: ubiquitously expressed
Pathology:
- defects in BCOR are a cause of microphthalmia with associated anomalies 2
General
transcriptional silencer (transcriptional repressor)
Properties
SIZE: MW = 192 kD
entity length = 1755 aa
COMPARTMENT: cell nucleus
MOTIF: Ser phosphorylation site {S423}
proline-rich region
SITE: 634-711
MOTIF: proline residue (SEVERAL)
ankyrin repeat
NAME: ankyrin repeat
SITE: 1462-1495
ankyrin repeat
NAME: ankyrin repeat
SITE: 1496-1525
ankyrin repeat
NAME: ankyrin repeat
SITE: 1529-1558
Database Correlations
OMIM correlations
MORBIDMAP 300485
UniProt Q6W2J9
Pfam PF00023
References
- UniProt :accession Q6W2J9
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=BCOR