USPL1

Chr 13

ubiquitin specific peptidase like 1

Also known as: C13orf22, D13S106E, bA121O19.1

NCBI Gene: 10208 ENSG00000132952 UniProt: Q5W0Q7

USPL1 encodes a SUMO-specific isopeptidase that removes SUMO modifications from proteins and plays a key role in RNA polymerase II-mediated snRNA transcription in Cajal bodies. Mutations cause autosomal recessive neurodevelopmental disorder with microcephaly, epilepsy, and brain malformations. The gene shows high constraint against loss-of-function variants (LOEUF 0.456), consistent with its essential role in cellular function.

ResearchSummary from RefSeq, UniProt

Enables SUMO binding activity and deSUMOylase activity. Involved in several processes, including Cajal body organization; protein desumoylation; and snRNA transcription. Located in Cajal body. [provided by Alliance of Genome Resources, Jul 2025]

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)

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P/LP submissions

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P/LP missense

0.46

LOEUF

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Mechanism

Some data sources returned errors (1)

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