NUP62
Domain
Contains FG repeats.
Function
Essential component of the nuclear pore complex (PubMed:1915414). The N-terminal is probably involved in nucleocytoplasmic transport (PubMed:1915414). The C-terminal is involved in protein-protein interaction probably via coiled-coil formation, promotes its association with centrosomes and may function in anchorage of p62 to the pore complex (PubMed:1915414, PubMed:24107630). Plays a role in mitotic cell cycle progression by regulating centrosome segregation, centriole maturation and spindle orientation (PubMed:24107630). It might be involved in protein recruitment to the centrosome after nuclear breakdown (PubMed:24107630).
Involvement in disease
Infantile striatonigral degeneration
SNDI
Neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
O-glycosylated. Contains about 10 N-acetylglucosamine side chain sites predicted for the entire protein, among which only one in the C-terminal.
The inner channel of the NPC has a different redox environment from the cytoplasm and allows the formation of interchain disulfide bonds between some nucleoporins, the significant increase of these linkages upon oxidative stress reduces the permeability of the NPC.
Sequence Similarities
Belongs to the nucleoporin NSP1/NUP62 family.
Cellular localization
- Nucleus
- Nuclear pore complex
- Cytoplasm
- Cytoskeleton
- Spindle pole
- Nucleus envelope
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
- Central region of the nuclear pore, within the transporter (PubMed:1915414). During mitotic cell division, it associates with the poles of the mitotic spindle (PubMed:24107630).
Alternative names
Nuclear pore glycoprotein p62, 62 kDa nucleoporin, Nucleoporin Nup62, NUP62