OTUD1

OTUD1 (OTU Deubiquitinase 1) is a protein that in humans is encoded by the OTUD1 gene. This protein is part of the OTU (ovarian tumor) domain-containing enzyme family, which is involved in protein deubiquitination.

Function

OTUD1 is a deubiquitinating enzyme (DUB) that controls levels of cellular ubiquitin through a proteolytic mechanism. Ubiquitin is a small protein that can be attached to certain other proteins to mark them for degradation. OTUD1 removes these ubiquitin tags, thereby preventing the degradation of the tagged proteins.

Clinical significance

Mutations in the OTUD1 gene have been associated with a variety of human diseases. For example, a study published in 2018 found that mutations in OTUD1 were associated with neurodevelopmental disorders and congenital heart disease.

Structure

The OTUD1 protein contains an OTU domain, a catalytic domain that is responsible for its deubiquitinating activity. This domain is highly conserved, meaning that it is found in similar forms in many different species, indicating its importance in cellular function.

See also

• OTU domain
• Ubiquitin
• Deubiquitinating enzyme

References

‎