Nucleoporin 133

Nucleoporin 133 (Nup133) is a protein that in humans is encoded by the NUP133 gene. It is a component of the nuclear pore complex, a structure that regulates the transport of molecules between the nucleus and the cytoplasm.

Structure

Nup133 is a large protein with a molecular mass of approximately 133 kDa. It is composed of a N-terminal beta-propeller domain and a C-terminal alpha-helical domain. The N-terminal domain is involved in the interaction with other nucleoporins, while the C-terminal domain is responsible for the anchoring of the protein to the nuclear pore complex.

Function

Nup133 is involved in the formation of the nuclear pore complex and plays a crucial role in the regulation of nucleocytoplasmic transport. It is also involved in the regulation of cell division and cell cycle progression. Mutations in the NUP133 gene have been associated with various diseases, including cancer and primary autosomal recessive microcephaly.

Clinical significance

Mutations in the NUP133 gene have been associated with a variety of diseases. For example, a mutation in this gene has been linked to Seckel syndrome, a rare genetic disorder characterized by growth retardation, microcephaly, and a bird-like face. In addition, mutations in NUP133 have been found in patients with acute myeloid leukemia (AML), suggesting a role for this protein in the pathogenesis of this disease.

See also

• Nuclear pore
• Nucleoporin
• NUP107

References

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