USP1
Chr 1ubiquitin specific peptidase 1
Also known as: UBP
This protein is a deubiquitinating enzyme that removes ubiquitin from key DNA repair proteins, specifically regulating the Fanconi anemia pathway and DNA translesion synthesis through deubiquitination of FANCD2 and PCNA. Biallelic mutations cause Fanconi anemia with short stature, microcephaly, and developmental delay, following an autosomal recessive inheritance pattern. The gene is highly constrained against loss-of-function variants, reflecting its critical role in DNA repair mechanisms.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
USP1 · 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