Entity Details

Primary name NUP93_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N1F7
EntryNameNUP93_HUMAN
FullNameNuclear pore complex protein Nup93
TaxID9606
Evidenceevidence at protein level
Length819
SequenceStatuscomplete
DateCreated2004-01-16
DateModified2021-06-02

Ontological Relatives

GenesNUP93

GO terms

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GOName
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:0006998 nuclear envelope 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:0031965 nuclear membrane
GO:0034399 nuclear periphery
GO:0043657 host cell
GO:0051292 nuclear pore complex assembly
GO:0060391 positive regulation of SMAD protein signal transduction
GO:0060395 SMAD protein signal transduction
GO:0060964 regulation of gene silencing by miRNA
GO:0075733 intracellular transport of virus
GO:1900034 regulation of cellular response to heat

Subcellular Location

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Subcellular Location
Nucleus
Nucleus envelope
Nucleus membrane

Domains

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DomainNameCategoryType
IPR007231 Nucleoporin interacting component Nup93/Nic96FamilyFamily

Diseases

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Disease IDSourceNameDescription
616892 OMIMNephrotic syndrome 12 (NPHS12)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 and progress to end-stage renal failure. NPHS12 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.