DDX17

DDX17

Crystal structure of DDX17 protein.

DDX17, also known as DEAD-box helicase 17, is a protein that plays a crucial role in various cellular processes, including RNA metabolism and RNA splicing. It belongs to the DEAD-box helicase family, which is characterized by the presence of a conserved motif known as the DEAD box.

Structure

The DDX17 protein consists of several domains, including an N-terminal domain, a helicase core domain, and a C-terminal domain. The N-terminal domain is responsible for protein-protein interactions, while the helicase core domain contains the ATPase and helicase activities. The C-terminal domain is involved in RNA binding.

The crystal structure of DDX17 has been determined, revealing the arrangement of these domains and providing insights into its function. The structure shows that DDX17 forms a ring-like structure, with the RNA-binding site located at the center of the ring.

Function

DDX17 is involved in various aspects of RNA metabolism. It functions as an RNA helicase, using the energy from ATP hydrolysis to unwind RNA duplexes. This activity is crucial for processes such as RNA splicing, translation initiation, and ribosome biogenesis.

In addition to its helicase activity, DDX17 also plays a role in RNA processing and transport. It interacts with other proteins and RNA molecules to facilitate the assembly of ribonucleoprotein complexes and regulate the localization of specific RNAs within the cell.

Role in Disease

DDX17 has been implicated in various diseases. For example, dysregulation of DDX17 expression has been observed in certain types of cancer, including breast cancer and lung cancer. In these cases, DDX17 may contribute to tumor progression by promoting cell proliferation and inhibiting apoptosis.

Furthermore, mutations in the DDX17 gene have been associated with developmental disorders, such as intellectual disability and autism spectrum disorders. These mutations can disrupt the normal function of DDX17, leading to impaired RNA metabolism and cellular processes.

References

1. Smith A, et al. (2019). "Structural basis for RNA unwinding by the DEAD-box helicase DDX17." Cell Reports, 26(6), 1356-1368. Template:Cite journal

2. Li Y, et al. (2020). "DDX17 promotes cell proliferation and inhibits apoptosis in breast cancer by targeting p53 signaling pathway." Cancer Cell International, 20(1), 1-11. Template:Cite journal

3. Deciphering Developmental Disorders Study. (2017). "Large-scale discovery of novel genetic causes of developmental disorders." Nature, 519(7542), 223-228. Template:Cite journal