OTUD1

Description

The OTUD1 (OTU deubiquitinase 1) is a protein-coding gene located on chromosome 10.

OTUD1 is a protein encoded by the OTUD1 gene in humans. It belongs to a family of deubiquitinating enzymes (DUBs) that remove ubiquitin tags from proteins. OTUD1 specifically contains an ovarian tumor (OTU) domain. DUBs counter the effects of ubiquitin ligases, which attach ubiquitin tags to proteins. Ubiquitination can alter the stability, localization, and function of proteins.

OTUD1 is a deubiquitinating enzyme that specifically breaks down 'Lys-63'-linked polyubiquitin chains into individual ubiquitin molecules. This activity is important for the stability and translation of certain mRNAs that contain a high number of rare codons. OTUD1 achieves this by removing ubiquitin from the 40S ribosomal protein RPS10/eS10, thus counteracting the ubiquitination activity of ZNF598. Rare codons can slow down translation, leading to ribosome collisions and activation of the ribosome quality control (RQC) pathway by ZNF598. However, OTUD1's deubiquitinating action prevents RQC activation, stops ribosomes from detaching, and promotes the formation of polysomes, ultimately boosting translation.

OTUD1 is also known as DUBA7, OTDC1.

Associated Diseases

WES Whole Exome Sequencing