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This gene is a member of the BORIS + CTCF gene family and encodes a transcriptional regulator protein with 11 highly conserved zinc finger (ZF) domains. This nuclear protein is able to use different combinations of the ZF domains to bind different DNA target sequences and proteins. Depending upon the context of the site, the protein can bind a histone acetyltransferase (HAT)-containing complex and function as a transcriptional activator or bind a histone deacetylase (HDAC)-containing complex and function as a transcriptional repressor. If the protein is bound to a transcriptional insulator element, it can block communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations in this gene have been associated with invasive breast cancers, prostate cancers, and Wilms' tumors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000775 [chromosome, centromeric region] GO:0000793 [condensed chromosome] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0003714 [transcription corepressor activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005730 [nucleolus] GO:0006306 [DNA methylation] GO:0006349 [regulation of gene expression by genetic imprinting] GO:0006355 [regulation of transcription, DNA-templated] GO:0006366 [transcription from RNA polymerase II promoter] GO:0007059 [chromosome segregation] GO:0008270 [zinc ion binding] GO:0010216 [maintenance of DNA methylation] GO:0010628 [positive regulation of gene expression] GO:0010629 [negative regulation of gene expression] GO:0016568 [chromatin modification] GO:0016584 [nucleosome positioning] GO:0031060 [regulation of histone methylation] GO:0035065 [regulation of histone acetylation] GO:0040029 [regulation of gene expression, epigenetic] GO:0040030 [regulation of molecular function, epigenetic] GO:0043035 [chromatin insulator sequence binding] GO:0043565 [sequence-specific DNA binding] GO:0044212 [transcription regulatory region DNA binding] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0046872 [metal ion binding] GO:0070602 [regulation of centromeric sister chromatid cohesion]
Predicted intracellular proteins Transcription factors Zinc-coordinating DNA-binding domains Cancer-related genes Mutated cancer genes Mutational cancer driver genes Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter] GO:0000775 [chromosome, centromeric region] GO:0000793 [condensed chromosome] GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding] GO:0001078 [transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding] GO:0003700 [transcription factor activity, sequence-specific DNA binding] GO:0003714 [transcription corepressor activity] GO:0005515 [protein binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005730 [nucleolus] GO:0007059 [chromosome segregation] GO:0008270 [zinc ion binding] GO:0010628 [positive regulation of gene expression] GO:0016568 [chromatin modification] GO:0016584 [nucleosome positioning] GO:0040029 [regulation of gene expression, epigenetic] GO:0040030 [regulation of molecular function, epigenetic] GO:0043035 [chromatin insulator sequence binding] GO:0043565 [sequence-specific DNA binding] GO:0044212 [transcription regulatory region DNA binding] GO:0045892 [negative regulation of transcription, DNA-templated] GO:0045893 [positive regulation of transcription, DNA-templated] GO:0046872 [metal ion binding] GO:0070602 [regulation of centromeric sister chromatid cohesion]