
NUP133 Gene - GeneCards | NU133 Protein | NU133 Antibody
Dec 25, 2024 · NUP133 (Nucleoporin 133) is a Protein Coding gene. Diseases associated with NUP133 include Galloway-Mowat Syndrome 8 and Nephrotic Syndrome, Type 18. Among its related pathways are Transport of the SLBP independent Mature mRNA and EML4 and NUDC in mitotic spindle formation.
Nuclear pore complex protein Nup133 - Wikipedia
Nuclear pore complex protein Nup133, or Nucleoporin Nup133, is a protein that in humans is encoded by the NUP133 gene. [5][6][7] The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells.
Nup133 Is Required for Proper Nuclear Pore Basket Assembly and …
May 22, 2018 · Souquet et al. report that Nup133, a structural component of the nuclear pore complex (NPC), is dispensable for NPC scaffold formation during post-mitotic and interphase pore assembly in embryonic stem cells. Yet, they also find that Nup133’s central domain is required for a properly configured nuclear basket in all NPCs.
NUP133 Controls Nuclear Pore Assembly, Transcriptome …
Here, we generated an in vitro model of NUP133 -linked nucleoporopathies using CRISPR/Cas9-mediated genome editing in human podocytes. Transcriptome, nuclear pore assembly, and cytoskeleton regulation of NUP133 loss-of-function, mutant, …
NUP133 nucleoporin 133 [Homo sapiens (human)] - Gene - NCBI
Jan 4, 2025 · Title: NUP133 Controls Nuclear Pore Assembly, Transcriptome Composition, and Cytoskeleton Regulation in Podocytes. These data of this study indicated that the biallelic NUP133 loss-of-function mutation causes Galloway-Mowat syndrome.
Structural and functional analysis of Nup133 domains reveals …
Here, we explore the domain structure of Nup133, a nucleoporin in a conserved NPC subcomplex that is crucial for NPC biogenesis and is believed to form part of the NPC scaffold.
Integrative Structure–Function Mapping of the Nucleoporin Nup133 ...
The nuclear pore complex (NPC) is the sole passageway for the transport of macromolecules across the nuclear envelope. Nup133, a major component in the essential Y-shaped Nup84 complex, is a large scaffold protein of the NPC's outer ring structure. ...
NUP133 nucleoporin 133 - NIH Genetic Testing Registry (GTR)
Apr 7, 2024 · Steroid-resistant nephrotic syndrome caused by nuclear pore gene NUP133 variation. Wang Q, Gu R, Li FW, Gu WY, Zhang JJWang Q, et al. Clin Genet, 2023 Aug. PMID 37041680; NUP133 Controls Nuclear Pore Assembly, Transcriptome Composition, and Cytoskeleton Regulation in Podocytes.
55746 - Gene ResultNUP133 nucleoporin 133 [ (human)]
Feb 8, 2025 · Steroid-resistant nephrotic syndrome caused by nuclear pore gene NUP133 variation. NUP133 Controls Nuclear Pore Assembly, Transcriptome Composition, and Cytoskeleton Regulation in Podocytes. These data of this study indicated that the biallelic NUP133 loss-of-function mutation causes Galloway-Mowat syndrome.
NUP133 Controls Nuclear Pore Assembly, Transcriptome
Apr 7, 2022 · Here, we generated an in vitro model of NUP133-linked nucleoporopathies using CRISPR/Cas9-mediated genome editing in human podocytes. Transcriptome, nuclear pore assembly, and cytoskeleton regulation of NUP133 loss-of-function, mutant, and wild-type podocytes were analyzed.