TERF2IP


Description

The TERF2IP (TERF2 interacting protein) is a protein-coding gene located on chromosome 16.

TERF2IP (Telomeric repeat-binding factor 2-interacting protein 1), also known as Rap1 (repressor activator protein 1), is a protein encoded by the TERF2IP gene in humans. It interacts with Ku80, Rad50, and TERF2.

TERF2IP acts as both a regulator of telomere function and a transcription regulator. It is involved in regulating telomere length and protection as part of the shelterin complex. Unlike other shelterin complex components, it is not essential for telomere capping and does not protect telomeres from non-homologous end-joining (NHEJ) repair. However, it is crucial for negatively regulating telomere recombination and inhibiting homology-directed repair (HDR), which can impact telomere length. TERF2IP does not directly bind to DNA but is recruited to telomeric double-stranded 5'-TTAGGG-3' repeats through its interaction with TERF2. Independent of its telomere function, it also acts as a transcription regulator. It is recruited to extratelomeric 5'-TTAGGG-3' sites through its association with TERF2 or other factors and regulates gene expression. When located in the cytoplasm, it associates with the I-kappa-B-kinase (IKK) complex and acts as a regulator of NF-kappa-B signaling by promoting IKK-mediated phosphorylation of RELA/p65, leading to the activation of NF-kappa-B target gene expression.

TERF2IP is also known as DRIP5, RAP1.

Associated Diseases


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