UCHL1 : ubiquitin C-terminal hydrolase L1
Description
The UCHL1 (ubiquitin C-terminal hydrolase L1) is a protein-coding gene located on chromosome 4.
The UCHL1 gene provides instructions for making an enzyme called ubiquitin carboxyl-terminal esterase L1. This enzyme is found in nerve cells throughout the brain. Ubiquitin carboxyl-terminal esterase L1 is probably involved in the cell machinery that breaks down (degrades) unneeded proteins. In cells, damaged or excess proteins are tagged with molecules called ubiquitin. Ubiquitin serves as a signal to move these unneeded proteins into specialized structures known as proteasomes, where the proteins are degraded. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins.Although the exact function of ubiquitin carboxyl-terminal esterase L1 is not fully understood, it appears to have two types of enzyme activity. One of these, called hydrolase activity, removes and recycles ubiquitin molecules from degraded proteins. This recycling step is important to sustain the degradation process. The other enzyme function, known as ligase activity, links together ubiquitin molecules for use in tagging proteins for disposal.
UCHL1 is a deubiquitinase, an enzyme that removes ubiquitin tags from proteins. This plays a crucial role in several cellular processes, including:
- Maintenance of synaptic function: UCHL1 helps regulate the breakdown of proteins involved in nerve cell communication.
- Cardiac function: UCHL1 influences the function of heart cells.
- Inflammatory response: UCHL1 affects the body's immune response.
- Osteoclastogenesis: UCHL1 regulates the formation of bone-resorbing cells.
UCHL1 can also:
- Prevent the ubiquitination of proteins: UCHL1 can stop ubiquitin tags from attaching to several proteins, including WWTR1/TAZ, EGFR, HIF1A, and BACE1.
- Maintain a stable pool of monoubiquitin: UCHL1 recycles ubiquitin, ensuring sufficient amounts for the ubiquitin-proteasome and autophagy-lysosome pathways.
- Regulate amyloid precursor protein (APP) processing: UCHL1 promotes the breakdown of BACE1, leading to decreased production of amyloid beta, a protein linked to Alzheimer's disease.
- Modulate immune response: UCHL1 affects the presentation of antigens by immune cells.
- Stabilize and activate epidermal growth factor receptor (EGFR): UCHL1 prevents EGFR degradation and activates its signaling pathways.
- Modulate oxidative activity in skeletal muscle: UCHL1 regulates proteins involved in energy production in muscle cells.
- Enhance the activity of hypoxia-inducible factor 1-alpha (HIF1A): UCHL1 prevents the degradation of HIF1A, a protein crucial for adapting to low oxygen conditions.
UCHL1 is also known as HEL-117, HEL-S-53, NDGOA, PARK5, PGP 9.5, PGP9.5, PGP95, SPG79, SPG79A, UCHL-1, Uch-L1.
Associated Diseases
- Parkinson disease 5, susceptibility to
- Spastic paraplegia 79A, autosomal dominant
- Young-onset Parkinson disease
- Spastic paraplegia 79, autosomal recessive
- Parkinson disease
