Human AT-rich interactive domain-containing protein 1A(ARID1A)

Human AT-rich interactive domain-containing protein 1A (ARID1A) is a protein that belongs to the SWI/SNF family of proteins, which have the ability to unwind DNA and use ATP as an energy source to regulate gene expression. They do this by modifying the structure of chromatin, which is the complex of DNA and proteins that makes up chromosomes, around specific genes. ARID1A is part of a large protein complex called SWI/SNF that is required for the activation of genes that are normally repressed by chromatin.

It has two important domains that contribute to its function. The first is the ARID domain, which is a DNA-binding domain that allows it to bind to a specific AT-rich DNA sequence that is recognized by the SWI/SNF complex at the beta-globin locus. The second is the C-terminus of the protein, which can stimulate the transcriptional activation of the glucocorticoid receptor. It is thought that ARID1A helps to give the SWI/SNF complex specificity and may target it to specific genes through either protein-DNA or protein-protein interactions. Two different isoforms of this gene have been identified.

ARID1A has been found to be commonly mutated in several types of cancer, including gastric cancer, ovarian clear cell carcinoma, and pancreatic cancer. In breast cancer, mutations in ARID1A have been found in distant metastases but not in the primary tumor, and reduced expression of ARID1A has been linked to resistance to certain drugs such as trastuzumab and mTOR inhibitors. These findings suggest that the accumulation of ARID1A mutations may be important in cancer development.