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Whole exome sequencing identified a novel and rare missense variant in the NUP107 gene (c.1063C>T, p.R355C) in both sisters with HH.
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NUP107 was suggested as a candidate in a family with nephrotic syndrome and developmental delay.
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Associations between biallelic NUP107 mutations and age at onset in children with steroid-resistant nephrotic syndrome.
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a variant in the 3'-UTR region Nup107 unique to sensitivity to platinum in ovarian cancer, was identified.
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Nup107-160 complex and its partner Elys dynamically colocalize with Nup98 and CRM1 into endogenous GLFG bodies present in specific HeLa sublines.
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a recessive missense mutation in nucleoporin-107 (NUP107, c.1339G>A, p.D447N). This mutation segregated with the XX-GD phenotype and was not present in available databases or in 150 healthy ethnically matched controls.
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The central domain of Nup107 interfered with Apaf-1 nuclear translocation upon genotoxic stress, resulting in a marked reduction of Chk-1 activation and cell cycle arrest.
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Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
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The functions have been ascribed to the NUP107 complex, ranging from Nuclear Pore Complex (NPC) assembly to mRNA export to cell differentiation.
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Study shows that 32 copies of the Nup107 subcomplex assemble into two reticulated rings, one each at the cytoplasmic and nuclear face of the nuclear pore complex.
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The SUMO-specific isopeptidase SENP2 associates dynamically with nuclear pore complexes through interactions with karyopherins and the Nup107-160 nucleoporin subcomplex.
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did a Trypan Blue cell viability assay and it showed increased cell death in NUP107 transfected cells than untreated control
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These findings support the notion that Nup107 may contribute significantly to the regulation of cell fate in aged and transformed cells by modulating nuclear trafficking of signal molecules.
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A major function of the Nup107 complex in mitosis is to ensure the proper localization of the chromosome passenger complex at the centromere.
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Data show that Nup107-160 promotes spindle assembly through Ran-GTP-regulated nucleation of microtubules by gamma-TuRC at kinetochores, and reveal a relationship between nucleoporins and the microtubule cytoskeleton.
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Nup107 functions as a keystone Nup that is required for the assembly of a subset of Nups into the nuclear pore complex
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Nup107-160 complex is dynamic in mitosis and that it promotes spindle assembly in a manner that is distinct from its functions at interphase nuclear pores.
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phosphorylation does not affect interactions within the Nup107-160 subcomplex, but regulates the association of the subcomplex with the NPC and other proteins
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These data thus provide the first molecular clues underlying the function of the human Nup107-160 complex at kinetochores.
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When complexed with NUP133, this complex will give the first insights into the protein-protein interactions within a core module of the nuclear pore complex.
