NUP214
Description
The NUP214 (nucleoporin 214) is a protein-coding gene located on chromosome 9.
NUP214 is a gene encoding a protein called Nucleoporin 214, which is a key component of the nuclear pore complex. This complex acts as a gateway between the nucleus and cytoplasm, regulating the transport of macromolecules. NUP214 is one of the FG-repeat-containing nucleoporins and is found on the cytoplasmic side of the nuclear pore complex. It plays a vital role in cell cycle progression and nucleocytoplasmic transport. The 3' end of the NUP214 gene can fuse with the DEK gene on chromosome 6 due to a t(6,9) translocation, which is associated with acute myeloid leukemia and myelodysplastic syndrome. The N-terminal domain of NUP214 has a seven-bladed beta-propeller structure with a 30-residue C-terminal extended peptide segment (CTE) that binds to its bottom face. This structure interacts with the helicase Ddx19 in its ADP-bound state, explaining their molecular interaction.
NUP214 is a component of the nuclear pore complex, playing a crucial role in nucleocytoplasmic transport. It acts as a docking site for receptor-mediated import of substrates across the nuclear pore complex.
NUP214 is also known as CAIN, CAN, IIAE9.
Associated Diseases
- Leukemia, acute lymphocytic, susceptibility to, 1
- Encephalopathy, acute, infection-induced, susceptibility to, 9
- Leukemia, acute myeloid
