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NUP155

Function

Essential component of nuclear pore complex. Could be essessential for embryogenesis. Nucleoporins may be involved both in binding and translocating proteins during nucleocytoplasmic transport.

Involvement in disease

Atrial fibrillation, familial, 15

ATFB15

A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.

None

The disease is caused by variants affecting the gene represented in this entry.

Post-translational modifications

Phosphorylated. Phosphorylation and dephosphorylation may be important for the function of NUP155 and may play a role in the reversible disassembly of the nuclear pore complex during mitosis (By similarity).

Disulfide-linked to NUP62. 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 (By similarity).

Sequence Similarities

Belongs to the non-repetitive/WGA-negative nucleoporin family.

Tissue Specificity

Expressed in all tissues tested, including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.

Cellular localization

Alternative names

KIAA0791, NUP155, Nuclear pore complex protein Nup155, 155 kDa nucleoporin, Nucleoporin Nup155

swissprot:O75694 omim:606694 entrezGene:9631