Nucleoporin 214

Nucleoporin 214 (NUP214), also known as CAN, is a protein that in humans is encoded by the NUP214 gene. It is a component of the nuclear pore complex (NPC), which is essential for the transport of molecules between the nucleus and the cytoplasm in eukaryotic cells.

Structure

NUP214 is a large nucleoporin that is located on the cytoplasmic side of the NPC. It is part of the nuclear pore complex's outer ring structure and interacts with other nucleoporins such as NUP88 and NUP62. The protein contains multiple FG repeat domains, which are characteristic of nucleoporins and are involved in the binding of transport receptors.

Function

NUP214 plays a critical role in the regulation of nucleocytoplasmic transport. It is involved in the export of mRNA and ribosomal subunits from the nucleus to the cytoplasm. NUP214 also participates in the import of proteins into the nucleus. The protein is essential for maintaining the proper function and integrity of the nuclear pore complex.

Clinical significance

Mutations or alterations in the NUP214 gene have been associated with various diseases. For example, a chromosomal translocation involving NUP214 and the ABL1 gene can result in the formation of the NUP214-ABL1 fusion protein, which is implicated in certain types of leukemia, such as acute lymphoblastic leukemia (ALL). This fusion protein has constitutive tyrosine kinase activity, leading to uncontrolled cell proliferation.

Interactions

NUP214 interacts with several other proteins and components of the nuclear pore complex. It forms a complex with NUP88 and NUP62, and these interactions are crucial for its function in nucleocytoplasmic transport. NUP214 also interacts with transport receptors such as CRM1 (also known as Exportin 1), which mediates the export of proteins and RNA from the nucleus.

See also

• Nuclear pore complex
• Nucleocytoplasmic transport
• Nucleoporin

External links

• Template:GeneReviews
• Online Mendelian Inheritance in Man (OMIM) 164920