USP1

Chr 1

ubiquitin specific peptidase 1

Also known as: UBP

NCBI Gene: 7398 ENSG00000162607 UniProt: O94782 OMIM: 603478

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.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the ubiquitin-specific processing (UBP) family of proteases that is a deubiquitinating enzyme (DUB) with His and Cys domains. This protein is located in the cytoplasm and cleaves the ubiquitin moiety from ubiquitin-fused precursors and ubiquitinylated proteins. The protein specifically deubiquitinates a protein in the Fanconi anemia (FA) DNA repair pathway. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008]

OMIM 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

0.26

LOEUF· LoF intol.

LOF

Mechanism· predicted