Nucleoporin 50

Nucleoporin 50 (also known as Nup50) is a protein that in humans is encoded by the NUP50 gene. It is a component of the nuclear pore complex, a structure that regulates the transport of molecules between the nucleus and the cytoplasm.

Function

Nucleoporin 50 is a member of the nucleoporin family. Nucleoporins are proteins that play crucial roles in the nuclear pore complex structure and function. Nup50 is located on the nuclear side of the nuclear pore complex and is involved in the nuclear export of proteins and RNA molecules. It interacts with several other nucleoporins and is thought to play a role in the nuclear transport process.

Structure

The NUP50 gene is located on the short (p) arm of chromosome 5 at position 13.2. The protein encoded by this gene has a molecular weight of approximately 50 kDa (hence the name Nucleoporin 50). It contains a nuclear localization signal (NLS) at its N-terminus, which is necessary for its import into the nucleus.

Clinical significance

Mutations in the NUP50 gene have been associated with various diseases. For example, a mutation in this gene has been linked to primary biliary cirrhosis, a chronic disease of the liver. Additionally, alterations in the expression of NUP50 have been observed in several types of cancer, including breast cancer and colorectal cancer.

See also

• Nuclear pore
• Nucleoporin
• Nuclear transport