UCHL1

The protein encoded by this gene belongs to the peptidase C12 family. This enzyme is a thiol protease that hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. This gene is specifically expressed in the neurons and in cells of the diffuse neuroendocrine system. Mutations in this gene may be associated with Parkinson disease.[provided by RefSeq, Sep 2009]

Full Name

Ubiquitin C-Terminal Hydrolase L1

Function

Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins (Probable). This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin (PubMed:9774100, PubMed:8639624, PubMed:12408865, PubMed:23359680).
Also binds to free monoubiquitin and may prevent its degradation in lysosomes (By similarity).
The homodimer may have ATP-independent ubiquitin ligase activity (PubMed:12408865).

Biological Process

Biological Process adult walking behavior Source:Ensembl
Biological Process axon target recognition Source:Ensembl
Biological Process axonal transport of mitochondrion Source:Ensembl
Biological Process cellular response to xenobiotic stimulus Source:Ensembl
Biological Process eating behavior Source:Ensembl
Biological Process male germ cell proliferation Source:Ensembl
Biological Process muscle cell development Source:Ensembl
Biological Process negative regulation of MAP kinase activity Source:BHF-UCL1 Publication
Biological Process neuromuscular process Source:Ensembl
Biological Process proteasome-mediated ubiquitin-dependent protein catabolic process Source:ParkinsonsUK-UCL1 Publication
Biological Process protein deubiquitination Source:UniProtKB1 Publication
Biological Process regulation of macroautophagy Source:ParkinsonsUK-UCL1 Publication
Biological Process response to ischemia Source:Ensembl
Biological Process sensory perception of pain Source:Ensembl

Cellular Location

Cytoplasm
Endoplasmic reticulum membrane
About 30% of total UCHL1 is associated with membranes in brain.

Involvement in disease

Parkinson disease 5 (PARK5):
A complex neurodegenerative disorder with manifestations ranging from typical Parkinson disease to dementia with Lewy bodies. Clinical features include parkinsonian symptoms (resting tremor, rigidity, postural instability and bradykinesia), dementia, diffuse Lewy body pathology, autonomic dysfunction, hallucinations and paranoia.
Spastic paraplegia 79, autosomal recessive (SPG79):
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG79 is characterized by childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfunction, and spasticity with upper motor neuron dysfunction.

PTM

O-glycosylated.