NUP133

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]

nucleoporin 133kDa

Involved in poly(A)+ RNA transport. Involved in nephrogenesis (PubMed:30179222).

mRNA export from nucleusManual Assertion Based On ExperimentIDA:UniProtKB
Nephron developmentManual Assertion Based On ExperimentIMP:UniProtKB
Neural tube developmentIEA:Ensembl
NeurogenesisIEA:Ensembl
Nuclear pore organizationManual Assertion Based On ExperimentIMP:UniProtKB
Nucleocytoplasmic transport1 PublicationIC:ComplexPortal
Paraxial mesoderm developmentIEA:Ensembl
Poly(A)+ mRNA export from nucleusManual Assertion Based On ExperimentIBA:GO_Central
Protein import into nucleusManual Assertion Based On ExperimentIBA:GO_Central
Somite developmentIEA:Ensembl
Transcription-dependent tethering of RNA polymerase II gene DNA at nuclear peripheryManual Assertion Based On ExperimentIBA:GO_Central

Nucleus, nuclear pore complex
Chromosome, centromere, kinetochore
Located on both the cytoplasmic and nuclear sides of the nuclear pore (PubMed:11564755).
During mitosis, localizes to the kinetochores (PubMed:11564755).

Nephrotic syndrome 18 (NPHS18):
A form of nephrotic syndrome, a renal disease clinically characterized by severe proteinuria, resulting in complications such as hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show non-specific histologic changes such as focal segmental glomerulosclerosis and diffuse mesangial proliferation. Some affected individuals have an inherited steroid-resistant form that progresses to end-stage renal failure. NPHS18 is an autosomal recessive, steroid-resistant progressive form with onset in the first decade of life.
Galloway-Mowat syndrome 8 (GAMOS8):
A form of Galloway-Mowat syndrome, a severe renal-neurological disease characterized by early-onset nephrotic syndrome associated with microcephaly, central nervous system abnormalities, developmental delays, and a propensity for seizures. Brain anomalies include gyration defects ranging from lissencephaly to pachygyria and polymicrogyria, and cerebellar hypoplasia. Most patients show facial dysmorphism characterized by a small, narrow forehead, large/floppy ears, deep-set eyes, hypertelorism and micrognathia. Additional variable features are visual impairment and arachnodactyly. Most patients die in early childhood. GAMOS8 inheritance is autosomal recessive.