SMARCE1

Ideogram human chromosome 17

SMARCE1

SMARCE1 is a gene that encodes a protein involved in chromatin remodeling. It is also known as SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1.

Function

The protein encoded by SMARCE1 is a core subunit of the SWI/SNF chromatin remodeling complex. This complex plays a crucial role in regulating gene expression by altering the structure of chromatin. SMARCE1 is involved in various cellular processes such as transcriptional regulation, DNA repair, and cell differentiation.

Structure

SMARCE1 contains several functional domains, including a DNA-binding domain and an ATPase domain. These domains enable the protein to interact with DNA and other proteins within the SWI/SNF complex, facilitating chromatin remodeling activities.

Clinical Significance

Mutations in the SMARCE1 gene have been associated with certain genetic disorders and cancers. Dysregulation of chromatin remodeling processes due to SMARCE1 mutations can lead to abnormal gene expression patterns, contributing to disease development.

Role in Cancer

Aberrant expression of SMARCE1 has been observed in various types of cancer, including breast cancer, lung cancer, and colorectal cancer. Studies have shown that targeting SMARCE1 and other components of the SWI/SNF complex may have therapeutic potential in cancer treatment.

Interactions

SMARCE1 interacts with other subunits of the SWI/SNF complex, as well as with transcription factors and epigenetic regulators. These interactions are essential for the proper functioning of the complex and its role in chromatin remodeling.