NUP133 Chromosome 1
Nucleoporin 133
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What This Gene Does
The nuclear envelope creates distinct nuclear and cytoplasmic compartments in eukaryotic cells. It consists of two concentric membranes perforated by nuclear pores, large protein complexes that form aqueous channels to regulate the flow of macromolecules between the nucleus and the cytoplasm. These complexes are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. The nucleoporin protein encoded by this gene displays evolutionarily conserved interactions with other nucleoporins. This protein, which localizes to both sides of the nuclear pore complex at interphase, remains associated with the complex during mitosis and is targeted at early stages to the reforming nuclear envelope. This protein also localizes to kinetochores of mitotic cells. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Minor histocompatibility antigens|Nucleoporins"
Locus Type
gene with protein product
Location
1q42.13
Ensembl
ENSG00000069248
Associated Conditions (3)
Nephrotic syndrome
type 18
Galloway-Mowat syndrome 8
Key Variants
RS200757782
Conflicting classifications of pathogenicity
Health Risk
RS376476266
Conflicting classifications of pathogenicity
Nephrotic syndrome, type 18, Nephrotic syndrome
Health Risk
RS755831030
Conflicting classifications of pathogenicity
Health Risk
RS1558091788
Likely pathogenic
Nephrotic syndrome, type 18, Nephrotic syndrome
Health Risk
RS1558108130
Likely pathogenic
Nephrotic syndrome, type 18, Nephrotic syndrome
Health Risk
RS1660478193
Likely pathogenic
Galloway-Mowat syndrome 8, Galloway-Mowat syndrome 8
Health Risk
RS760521214
Likely pathogenic
Nephrotic syndrome, type 18, Nephrotic syndrome
Health Risk
RS1433513056
Pathogenic
Galloway-Mowat syndrome 8, Galloway-Mowat syndrome 8
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200757782 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376476266 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome, type 18, Nephrotic syndrome |
| RS755831030 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1558091788 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 18, Nephrotic syndrome |
| RS1558108130 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 18, Nephrotic syndrome |
| RS1660478193 | Health Risk | Likely pathogenic | Galloway-Mowat syndrome 8, Galloway-Mowat syndrome 8 |
| RS760521214 | Health Risk | Likely pathogenic | Nephrotic syndrome, type 18, Nephrotic syndrome |
| RS1433513056 | Health Risk | Pathogenic | Galloway-Mowat syndrome 8, Galloway-Mowat syndrome 8 |