CDGSH Iron Sulfur Domain 1 (CISD1), also known as mitoNEET, is a protein encoded by the CISD1 gene. This protein is characterized by the presence of a CDGSH iron-sulfur domain, which is crucial for its function. CISD1 is primarily localized to the outer membrane of mitochondria and plays a significant role in cellular iron homeostasis and redox regulation .
CISD1 contains a CDGSH domain that binds a redox-active [2Fe-2S] cluster. This domain is essential for the protein’s ability to regulate oxidative stress within cells. The protein’s structure includes an N-terminal membrane-anchoring domain and a C-terminal cytosolic domain, which contains the iron-sulfur cluster binding site .
The primary function of CISD1 is to act as a sensor of oxidative signals in cells. It is involved in the regulation of cell death and proliferation, particularly in cancer cells. The protein’s ability to bind iron-sulfur clusters allows it to participate in various cellular processes, including electron transport and redox reactions .
The CISD1 gene is located on chromosome 10 and is a protein-coding gene. It has several aliases, including C10orf70, ZCD1, and MDS029. The gene is highly conserved across different species, indicating its essential role in cellular functions .
Mutations in the CISD1 gene have been associated with various diseases, including Amelogenesis Imperfecta, Hypomaturation Type, and Hereditary Combined Deficiency of Vitamin K-Dependent Clotting Factors. These mutations can disrupt the protein’s function, leading to impaired cellular processes and disease development .
Research on CISD1 has revealed its potential as a therapeutic target for various diseases. For instance, the protein’s role in regulating oxidative stress makes it a potential target for cancer therapy. Additionally, studies have shown that CISD1 may be involved in the regulation of mitochondrial function and cellular metabolism, further highlighting its importance in maintaining cellular homeostasis .
In clinical settings, antibodies targeting CISD1, such as mouse anti-human CISD1 antibodies, are used in research to study the protein’s expression and function. These antibodies help in understanding the protein’s role in different cellular processes and its involvement in disease mechanisms .