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For Research Use Only. Not For Clinical Use.


Background

This gene belongs to the BORIS + CTCF gene family and encodes a transcriptional regulator protein. It features 11 highly conserved zinc finger (ZF) domains, enabling this nuclear protein to utilize various combinations of these domains to bind diverse DNA target sequences and proteins. Depending on the cellular context, the protein can act as a transcriptional activator by associating with a histone acetyltransferase (HAT)-containing complex, or as a transcriptional repressor by binding a histone deacetylase (HDAC)-containing complex. When bound to a transcriptional insulator element, it can disrupt communication between enhancers and upstream promoters, thereby regulating imprinted expression. Mutations within this gene have been linked to invasive breast cancers, prostate cancers, and Wilms' tumors. Furthermore, alternatively spliced transcript variants give rise to different protein isoforms.
Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Transcription factors

Predicted location

Intracellular

Single cell type specificity

Low cell type specificity

Immune cell specificity

Low immune cell specificity

Cell line specificity

Low cell line specificity

Interaction

Interacts with CHD8 (PubMed:16949368). Interacts with LLPH (By similarity). Interacts with CENPE (PubMed:26321640).

Molecular function

Activator, Chromatin regulator, DNA-binding, Repressor

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