UBN1

Chr 16

ubinuclein 1

Also known as: VT, VT4

NCBI Gene: 29855 ENSG00000118900 UniProt: Q9NPG3

The protein encoded by UBN1 regulates chromatin assembly and formation of senescence-associated heterochromatin foci that repress proliferation-promoting genes. Mutations cause autosomal dominant intellectual disability with microcephaly and seizures, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.21), indicating that haploinsufficiency is likely not tolerated.

ResearchSummary from RefSeq, UniProt

Cellular senescence is a hallmark of tumor suppression and tissue aging. Senescent cells contain domains of heterochromatin, called senescence-associated heterochromatin foci (SAHF), that repress proliferation-promoting genes. The protein encoded by this gene binds to proliferation-promoting genes and is required for SAHF formation, enhancing methylation of histone H3. [provided by RefSeq, Oct 2016]

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

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.21

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)