USPL1
Chr 13ubiquitin specific peptidase like 1
Also known as: C13orf22, D13S106E, bA121O19.1
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
USPL1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools