NUP58

Chr 13

nucleoporin 58

Also known as: NUP45, NUPL1, PRO2463

NCBI Gene: 9818 ENSG00000139496 UniProt: Q9BVL2

This protein is a component of the nuclear pore complex that regulates trafficking of molecules across the nuclear membrane. Mutations cause autosomal dominant or autosomal recessive neurodevelopmental disorders with intellectual disability, developmental delay, and seizures. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the nucleoporin family that shares 87% sequence identity with rat nucleoporin p58. The protein is localized to the nuclear rim and is a component of the nuclear pore complex (NPC). All molecules entering or leaving the nucleus either diffuse through or are actively transported by the NPC. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.35

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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