NUP155
Nucleoporins are proteins that play an important role in the assembly and functioning of the nuclear pore complex (NPC) which regulates the movement of macromolecules across the nuclear envelope (NE). The protein encoded by this gene plays a role in the fusion of NE vesicles and formation of the double membrane NE. The protein may also be involved in cardiac physiology and may be associated with the pathogenesis of atrial fibrillation. Alternative splicing results in multiple transcript variants of this gene. A pseudogene associated with this gene is located on chromosome 6.
Full Name
nucleoporin 155
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.
Biological Process
Atrial cardiac muscle cell action potentialIEA:Ensembl
mRNA export from nucleusIEA:Ensembl
Nuclear envelope organizationManual Assertion Based On ExperimentIDA:MGI
Nucleocytoplasmic transport1 PublicationIC:ComplexPortal
Protein import into nucleusManual Assertion Based On ExperimentIBA:GO_Central
Protein localization to nuclear inner membraneManual Assertion Based On ExperimentIBA:GO_Central
RNA export from nucleusManual Assertion Based On ExperimentIBA:GO_Central
Transcription-dependent tethering of RNA polymerase II gene DNA at nuclear peripheryManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Nucleus, nuclear pore complex
Nucleus membrane By Similarity; Peripheral membrane protein
Nucleus membrane By Similarity; Peripheral membrane protein
In mitosis, assumes a diffuse cytoplasmic distribution probably as a monomer, before reversing back into a punctate nuclear surface localization at the end of mitosis.
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.
PTM
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).