AFF1

Ideogram human chromosome 4

AFF1

AFF1 is a protein that plays a crucial role in cellular functions. It is encoded by the AFF1 gene located on chromosome 4 in humans. This gene is associated with various biological processes, including transcriptional regulation and cell differentiation.

Structure

The AFF1 protein consists of multiple domains, including the N-terminal homology domain and the C-terminal homology domain. These domains are essential for the protein's function in mediating protein-protein interactions and regulating gene expression.

Function

AFF1 functions as a transcriptional activator by interacting with other proteins involved in gene regulation. It is known to be a component of the super elongation complex, which is responsible for promoting the elongation phase of transcription by RNA polymerase II.

Clinical Significance

Mutations in the AFF1 gene have been linked to certain diseases, including leukemia and other hematological malignancies. Dysregulation of AFF1 expression can lead to abnormal cell growth and differentiation, contributing to the development of cancer.

Interactions

AFF1 interacts with various proteins, such as ENL, AF9, and DOT1L, forming complexes that regulate gene expression. These interactions are crucial for the proper functioning of AFF1 in transcriptional activation and elongation.