BCL-6 corepressor

BCL6 corepressor

Available structures

Ortholog search: PDBe, RCSB

List of PDB id codes
3BIM, 4HPL

Identifiers

Symbols

BCOR ; ANOP2; MAA2; MCOPS2

External IDs

OMIM: 300485 MGI: 1918708 HomoloGene: 9809 GeneCards: BCOR Gene

Gene ontology
Molecular function	• transcription corepressor activity • ubiquitin-protein transferase activity • protein binding • transcription factor binding • heat shock protein binding • histone deacetylase binding • transcription regulatory region DNA binding
Cellular component	• nucleus • PcG protein complex
Biological process	• negative regulation of transcription from RNA polymerase II promoter • negative regulation of histone H3-K36 methylation • transcription, DNA-templated • heart development • negative regulation of bone mineralization • histone H2A monoubiquitination • odontogenesis • negative regulation of transcription, DNA-templated • negative regulation of histone H3-K4 methylation • palate development • specification of axis polarity • negative regulation of tooth mineralization
Sources: Amigo / QuickGO

RNA expression pattern

More reference expression data

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr X:
40.05 – 40.18 Mb

Chr X:
12.04 – 12.16 Mb

PubMed search

BCL-6 corepressor is a protein that in humans is encoded by the BCOR gene.^[1]^[2]

Function

The protein encoded by this gene was identified as an interacting corepressor of BCL6, a POZ/zinc finger transcription repressor that is required for germinal center formation and may influence apoptosis. This protein selectively interacts with the POZ domain of BCL6, but not with eight other POZ proteins. Specific class I and II histone deacetylases (HDACs) have been shown to interact with this protein, which suggests a possible link between the two classes of HDACs. At least four alternatively spliced transcript variants, which encode different isoforms, have been reported for this gene.^[2]

Clinical significance

Mutations in the BCOR gene cause a form of syndromic microphthalmia (small eye) called MCOPS2. This syndrome incorporates microphthalmia, congenital cataracts, cardiac defects, dental defects and skeletal anomalies. Mutations in this gene have also been found associated to acute myeloid leukemia.^[3]

Interactions

BCOR has been shown to interact with MLLT3^[4] and BCL6.^[1]

References

1 2 Huynh KD, Fischle W, Verdin E, Bardwell VJ (Jul 2000). "BCoR, a novel corepressor involved in BCL-6 repression". Genes & Development 14 (14): 1810–23. doi:10.1101/gad.14.14.1810. PMC 316791. PMID 10898795.
1 2 "Entrez Gene: BCOR BCL6 co-repressor".
↑ Grossmann V, Tiacci E, Holmes AB, Kohlmann A, Martelli MP, Kern W, Spanhol-Rosseto A, Klein HU, Dugas M, Schindela S, Trifonov V, Schnittger S, Haferlach C, Bassan R, Wells VA, Spinelli O, Chan J, Rossi R, Baldoni S, De Carolis L, Goetze K, Serve H, Peceny R, Kreuzer KA, Oruzio D, Specchia G, Di Raimondo F, Fabbiano F, Sborgia M, Liso A, Farinelli L, Rambaldi A, Pasqualucci L, Rabadan R, Haferlach T, Falini B (Dec 2011). "Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype". Blood 118 (23): 6153–63. doi:10.1182/blood-2011-07-365320. PMID 22012066.
↑ Srinivasan RS, de Erkenez AC, Hemenway CS (May 2003). "The mixed lineage leukemia fusion partner AF9 binds specific isoforms of the BCL-6 corepressor". Oncogene 22 (22): 3395–406. doi:10.1038/sj.onc.1206361. PMID 12776190.

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Ng D, Hadley DW, Tifft CJ, Biesecker LG (Jul 2002). "Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder?". American Journal of Medical Genetics 110 (4): 308–14. doi:10.1002/ajmg.10484. PMID 12116202.
Tomsig JL, Snyder SL, Creutz CE (Mar 2003). "Identification of targets for calcium signaling through the copine family of proteins. Characterization of a coiled-coil copine-binding motif". The Journal of Biological Chemistry 278 (12): 10048–54. doi:10.1074/jbc.M212632200. PMID 12522145.
Srinivasan RS, de Erkenez AC, Hemenway CS (May 2003). "The mixed lineage leukemia fusion partner AF9 binds specific isoforms of the BCL-6 corepressor". Oncogene 22 (22): 3395–406. doi:10.1038/sj.onc.1206361. PMID 12776190.
Ng D, Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AO, van der Smagt JJ, Gorlin RJ, Burgess SM, Bardwell VJ, Black GC, Biesecker LG (Apr 2004). "Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR". Nature Genetics 36 (4): 411–6. doi:10.1038/ng1321. PMID 15004558.
Beausoleil SA, Jedrychowski M, Schwartz D, Elias JE, Villén J, Li J, Cohn MA, Cantley LC, Gygi SP (Aug 2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proceedings of the National Academy of Sciences of the United States of America 101 (33): 12130–5. doi:10.1073/pnas.0404720101. PMC 514446. PMID 15302935.
Horn D, Chyrek M, Kleier S, Lüttgen S, Bolz H, Hinkel GK, Korenke GC, Riess A, Schell-Apacik C, Tinschert S, Wieczorek D, Gillessen-Kaesbach G, Kutsche K (May 2005). "Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome". European Journal of Human Genetics 13 (5): 563–9. doi:10.1038/sj.ejhg.5201391. PMID 15770227.
Lee JA, Suh DC, Kang JE, Kim MH, Park H, Lee MN, Kim JM, Jeon BN, Roh HE, Yu MY, Choi KY, Kim KY, Hur MW (Jul 2005). "Transcriptional activity of Sp1 is regulated by molecular interactions between the zinc finger DNA binding domain and the inhibitory domain with corepressors, and this interaction is modulated by MEK". The Journal of Biological Chemistry 280 (30): 28061–71. doi:10.1074/jbc.M414134200. PMID 15878880.
Lim J, Hao T, Shaw C, Patel AJ, Szabó G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabási AL, Vidal M, Zoghbi HY (May 2006). "A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration". Cell 125 (4): 801–14. doi:10.1016/j.cell.2006.03.032. PMID 16713569.
Gearhart MD, Corcoran CM, Wamstad JA, Bardwell VJ (Sep 2006). "Polycomb group and SCF ubiquitin ligases are found in a novel BCOR complex that is recruited to BCL6 targets". Molecular and Cellular Biology 26 (18): 6880–9. doi:10.1128/MCB.00630-06. PMC 1592854. PMID 16943429.
Hilton EN, Manson FD, Urquhart JE, Johnston JJ, Slavotinek AM, Hedera P, Stattin EL, Nordgren A, Biesecker LG, Black GC (Jul 2007). "Left-sided embryonic expression of the BCL-6 corepressor, BCOR, is required for vertebrate laterality determination". Human Molecular Genetics 16 (14): 1773–82. doi:10.1093/hmg/ddm125. PMID 17517692.

External links

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