CTCF

CTCF (CCCTC-Binding Factor) is a Protein Coding gene. Diseases associated with CTCF include Mental Retardation, Autosomal Dominant 21 and Spherocytosis, Type 4. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and chromatin binding. An important paralog of this gene is CTCFL.

CCCTC-Binding Factor

Chromatin binding factor that binds to DNA sequence specific sites. Involved in transcriptional regulation by binding to chromatin insulators and preventing interaction between promoter and nearby enhancers and silencers. Acts as transcriptional repressor binding to promoters of vertebrate MYC gene and BAG1 gene. Also binds to the PLK and PIM1 promoters. Acts as a transcriptional activator of APP. Regulates APOA1/C3/A4/A5 gene cluster and controls MHC class II gene expression. Plays an essential role in oocyte and preimplantation embryo development by activating or repressing transcription. Seems to act as tumor suppressor. Plays a critical role in the epigenetic regulation. Participates in the allele-specific gene expression at the imprinted IGF2/H19 gene locus. On the maternal allele, binding within the H19 imprinting control region (ICR) mediates maternally inherited higher-order chromatin conformation to restrict enhancer access to IGF2. Plays a critical role in gene silencing over considerable distances in the genome. Preferentially interacts with unmethylated DNA, preventing spreading of CpG methylation and maintaining methylation-free zones. Inversely, binding to target sites is prevented by CpG methylation. Plays an important role in chromatin remodeling. Can dimerize when it is bound to different DNA sequences, mediating long-range chromatin looping. Mediates interchromosomal association between IGF2/H19 and WSB1/NF1 and may direct distant DNA segments to a common transcription factory. Causes local loss of histone acetylation and gain of histone methylation in the beta-globin locus, without affecting transcription. When bound to chromatin, it provides an anchor point for nucleosomes positioning. Seems to be essential for homologous X-chromosome pairing. May participate with Tsix in establishing a regulatable epigenetic switch for X chromosome inactivation. May play a role in preventing the propagation of stable methylation at the escape genes from X- inactivation. Involved in sister chromatid cohesion. Associates with both centromeres and chromosomal arms during metaphase and required for cohesin localization to CTCF sites. Regulates asynchronous replication of IGF2/H19. Plays a role in the recruitment of CENPE to the pericentromeric/centromeric regions of the chromosome during mitosis (PubMed:26321640).

Chromosome segregation Source: UniProtKB-KW
DNA methylation Source: Ensembl
Genetic imprinting Source: GO_Central
Maintenance of DNA methylation Source: Ensembl
Negative regulation of cell population proliferation Source: UniProtKB
Negative regulation of gene expression Source: Ensembl
Negative regulation of transcription, DNA-templated Source: UniProtKB
Nnegative regulation of transcription by RNA polymerase II Source: NTNU_SB
Nucleosome positioning Source: UniProtKB
Positive regulation of gene expression Source: UniProtKB
Positive regulation of transcription, DNA-templated Source: UniProtKB
Protein localization to chromosome, centromeric region Source: UniProtKB
Regulation of centromeric sister chromatid cohesion Source: UniProtKB
Regulation of gene expression, epigenetic Source: UniProtKB
Regulation of gene expression by genetic imprinting Source: Ensembl
Regulation of histone acetylation Source: Ensembl
Regulation of histone methylation Source: Ensembl
Regulation of molecular function, epigenetic Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central

Nucleoplasm; Chromosome; Centromere. May translocate to the nucleolus upon cell differentiation. Associates with both centromeres and chromosomal arms during metaphase. Associates with the H19 ICR in mitotic chromosomes. May be preferentially excluded from heterochromatin during interphase.

Mental retardation, autosomal dominant 21 (MRD21):
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Additional MRD21 features include short stature, microcephaly, and developmental delay.

Sumoylated on Lys-74 and Lys-689; sumoylation of CTCF contributes to the repressive function of CTCF on the MYC P2 promoter.