Entity Details

Primary name NU133_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8WUM0
EntryNameNU133_HUMAN
FullNameNuclear pore complex protein Nup133
TaxID9606
Evidenceevidence at protein level
Length1156
SequenceStatuscomplete
DateCreated2003-03-28
DateModified2021-06-02

Ontological Relatives

GenesNUP133

GO terms

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GOName
GO:0000972 transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery
GO:0005635 nuclear envelope
GO:0005643 nuclear pore
GO:0005829 cytosol
GO:0006110 regulation of glycolytic process
GO:0006406 mRNA export from nucleus
GO:0006409 tRNA export from nucleus
GO:0006606 protein import into nucleus
GO:0006999 nuclear pore organization
GO:0007052 mitotic spindle organization
GO:0007084 mitotic nuclear membrane reassembly
GO:0016020 membrane
GO:0016032 viral process
GO:0016925 protein sumoylation
GO:0016973 poly(A)+ mRNA export from nucleus
GO:0017056 structural constituent of nuclear pore
GO:0019058 viral life cycle
GO:0019083 viral transcription
GO:0021915 neural tube development
GO:0022008 neurogenesis
GO:0031080 nuclear pore outer ring
GO:0031965 nuclear membrane
GO:0043657 host cell
GO:0048339 paraxial mesoderm development
GO:0060964 regulation of gene silencing by miRNA
GO:0061053 somite development
GO:0072006 nephron development
GO:0075733 intracellular transport of virus
GO:1900034 regulation of cellular response to heat

Subcellular Location

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Subcellular Location
Chromosome
Nucleus

Domains

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DomainNameCategoryType
IPR007187 Nucleoporin, Nup133/Nup155-like, C-terminalDomainDomain
IPR015943 WD40/YVTN repeat-like-containing domain superfamilyFamilyHomologous superfamily
IPR037624 Nuclear pore complex protein Nup133-likeFamilyFamily

Diseases

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Disease IDSourceNameDescription
618349 OMIMGalloway-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. The disease is caused by variants affecting the gene represented in this entry.
618177 OMIMNephrotic 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. The disease is caused by variants affecting the gene represented in this entry.