USP39

USP39

USP39, also known as Ubiquitin Specific Peptidase 39, is a protein-coding gene that is located on chromosome 2 in humans. It is a member of the ubiquitin-specific protease (USP) family, which plays a crucial role in the regulation of various cellular processes.

Structure and Function

The USP39 gene encodes a protein that consists of 1,160 amino acids. It contains several functional domains, including a catalytic domain responsible for its deubiquitinating activity. USP39 is primarily localized in the nucleus and is involved in the processing of precursor messenger RNA (pre-mRNA) during splicing.

Role in Pre-mRNA Splicing

USP39 is an essential component of the spliceosome, a large molecular complex responsible for the removal of introns from pre-mRNA molecules. It interacts with other spliceosomal proteins, such as SF3B1 and SF3B2, to facilitate the accurate and efficient splicing of pre-mRNA. Through its deubiquitinating activity, USP39 helps regulate the stability and activity of these spliceosomal proteins, ensuring proper splicing of pre-mRNA.

Clinical Significance

Mutations in the USP39 gene have been associated with various diseases and disorders. For example, studies have shown that mutations in USP39 can lead to craniofacial abnormalities, intellectual disability, and developmental delay. Additionally, dysregulation of USP39 expression has been observed in certain types of cancer, suggesting its potential role in tumorigenesis.

References

1. Spliceosome 2. SF3B1 3. SF3B2 4. Pre-mRNA 5. Ubiquitin-specific protease

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