OTUD1

Chr 10

OTU deubiquitinase 1

Also known as: DUBA7, OTDC1

NCBI Gene: 220213 ENSG00000165312 UniProt: Q5VV17 OMIM: 612022

The OTUD1 protein is a deubiquitinating enzyme that specifically cleaves lysine-63-linked polyubiquitin chains and regulates ribosomal protein stability to ensure proper translation of mRNAs containing rare codons. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures, typically presenting in infancy. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.619), suggesting some tolerance to haploinsufficiency.

OMIM ResearchSummary from RefSeq, UniProt

Deubiquitinating enzymes (DUBs; see MIM 603478) are proteases that specifically cleave ubiquitin (MIM 191339) linkages, negating the action of ubiquitin ligases. DUBA7 belongs to a DUB subfamily characterized by an ovarian tumor (OTU) domain.[supplied by OMIM, May 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)

—

P/LP submissions

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P/LP missense

0.62

LOEUF

LOF

Mechanism· predicted