UCHL3

Description

The UCHL3 (ubiquitin C-terminal hydrolase L3) is a protein-coding gene located on chromosome 13.

Ubiquitin carboxyl-terminal hydrolase isozyme L3 is an enzyme that in humans is encoded by the UCHL3 gene.

== Interactions == UCHL3 has been shown to interact with NEDD8 and the tauopathy and synucleinopathy associated mutated ubiquitin molecule UBB+1.

UCHL3 is a deubiquitinating enzyme (DUB) that regulates cellular ubiquitin levels by processing ubiquitin precursors and ubiquitinated proteins. It acts as a thiol protease, recognizing and hydrolyzing peptide bonds at the C-terminal glycine of ubiquitin or NEDD8. UCHL3 exhibits a 10-fold preference for Arg and Lys at position P3'' and favors Lys-48-linked ubiquitin chains. It deubiquitinates ENAC in apical compartments, regulating apical membrane recycling. UCHL3 indirectly increases phosphorylation of IGFIR, AKT, and FOXO1, promoting insulin signaling and adipogenesis. It is essential for stress-response maintenance in retinal, skeletal muscle, and germ cells. UCHL3 may play a role in working memory. It can hydrolyze UBB(+1), a mutated ubiquitin associated with neurodegenerative disorders, which is poorly degraded by the proteasome.

UCHL3 is also known as UCH-L3.

Associated Diseases

WES Whole Exome Sequencing