Description: Homo sapiens BCL6 corepressor (BCOR), transcript variant 3, mRNA. (from RefSeq NM_001123383) RefSeq Summary (NM_001123383): 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. Several transcript variants encoding different isoforms have been found for this gene. A pseudogene of this gene is found on chromosome Y.[provided by RefSeq, Jun 2010]. Gencode Transcript: ENST00000342274.8 Gencode Gene: ENSG00000183337.17 Transcript (Including UTRs) Position: hg38 chrX:40,051,248-40,177,329 Size: 126,082 Total Exon Count: 15 Strand: - Coding Region Position: hg38 chrX:40,052,109-40,077,929 Size: 25,821 Coding Exon Count: 14
ID:BCOR_HUMAN DESCRIPTION: RecName: Full=BCL-6 corepressor; Short=BCoR; FUNCTION: Transcriptional corepressor. May specifically inhibit gene expression when recruited to promoter regions by sequence specific DNA-binding proteins such as BCL6 and MLLT3. This repression may be mediated at least in part by histone deacetylase activities which can associate with this corepressor. Involved in the repression of TFAP2A; impairs binding of BCL6 and KDM2B to TFAP2A promoter regions. Via repression of TFAP2A acts as a negative regulator of osteo-dentiogenic capacity in adult stem cells; the function implies inhibition of methylation on histone H3 'Lys-4' (H3K4me3) and 'Lys-36' (H3K36me2). SUBUNIT: Isoform 1 may interact with MLLT3/AF9 (By similarity). Interacts with BCL6; the interaction is direct. Can interact with HDAC1, HDAC3 and HDAC5. Interacts with PCGF1; the interaction is direct. Interacts with KDM2B. Component of an approximative 800 kDa repressive BCOR complex at least composed of BCOR, RYBP, PCGF1, RING1, RNF2/RING2, KDM2B and SKP1. INTERACTION: Q8NHM5:KDM2B; NbExp=2; IntAct=EBI-950027, EBI-3955564; Q9BSM1:PCGF1; NbExp=6; IntAct=EBI-950027, EBI-749901; SUBCELLULAR LOCATION: Nucleus. TISSUE SPECIFICITY: Ubiquitously expressed. DISEASE: Defects in BCOR are the cause of microphthalmia syndromic type 2 (MCOPS2) [MIM:300166]. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities. MCOPS2 is a very rare multiple congenital anomaly syndrome characterized by eye anomalies (congenital cataract, microphthalmia, or secondary glaucoma), facial abnormalities (long narrow face, high nasal bridge, pointed nose with cartilages separated at the tip, cleft palate, or submucous cleft palate), cardiac anomalies (atrial septal defect, ventricular septal defect, or floppy mitral valve) and dental abnormalities (canine radiculomegaly, delayed dentition, oligodontia, persistent primary teeth, or variable root length). SIMILARITY: Belongs to the BCOR family. SIMILARITY: Contains 3 ANK repeats. SEQUENCE CAUTION: Sequence=AAH63536.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Presence of complementary strand sequence in the clone; Sequence=BAA91061.1; Type=Miscellaneous discrepancy; Note=Intron retention; Sequence=BAB13401.2; Type=Erroneous initiation; Sequence=BAB85037.1; Type=Frameshift; Positions=1353; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/BCOR";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q6W2J9
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.