NCBI and Uniprot Product Information
NCBI Description
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]
Uniprot Description
CTCF: a widely expressed, sequence-specific DNA-binding transcriptional regulator, insulator, and organizer of higher-order chromatin structure. Acts as a tumor suppressor. Contains 11 C2H2-type zinc fingers. Involved in promoter activation or repression, hormone-responsive gene silencing, methylation-dependent chromatin insulation, and genomic imprinting. Mediates pairing between X chromosomes and interactions between distant regulatory elements. Binds to promoters of c-myc, PLK, PIM1 and APP. A critical regulator of cell-cycle arrest and death after B cell receptor signaling in immature B cells. CTCF, together with YY1 and Tsix, form a regulated epigenetic switch for X-inactivation.
Protein type: Tumor suppressor; C2H2-type zinc finger protein; Transcription factor
Chromosomal Location of Human Ortholog: 16q21-q22.3
Cellular Component: nucleoplasm; nucleolus; condensed chromosome; nucleus; chromosome, pericentric region
Molecular Function: protein binding; zinc ion binding; sequence-specific DNA binding; chromatin insulator sequence binding; transcription factor activity; transcription corepressor activity
Biological Process: genetic imprinting; transcription, DNA-dependent; maintenance of DNA methylation; positive regulation of transcription, DNA-dependent; regulation of histone methylation; regulation of histone acetylation; negative regulation of transcription from RNA polymerase II promoter; chromatin modification; regulation of gene expression, epigenetic; nucleosome positioning; chromosome segregation; regulation of molecular function, epigenetic; DNA methylation; negative regulation of transcription, DNA-dependent
Disease: Mental Retardation, Autosomal Dominant 21