Protein Variants | Comment | Organism |
---|---|---|
E7A | point mutation in UCH-L1 is identified as the cause of early onset neurodegeneration in three siblings who appear normal at birth, but became blind at 5 years old and suffer progressive neurological dysfunction and cerebellar ataxia, and are unable to stand by the age of 30 | Homo sapiens |
I93M | transgenic mice expressing the human I93M gene are born normally and are fertile. They do display aberrant dopaminergic neuron morphology in the substantia nigra at 12 weeks, consistent with degeneration and a loss of dopaminergic neurons at 20 weeks. The I93M mutation decreases UCHL1 solubility, corresponding with an apparent loss of alpha-helical structure seen via circular dichroism, and a reduction in hydrolytic activity by approximately 50% | Homo sapiens |
S18Y | mutation in UCH-L1 exerts a neuroprotective effect against Parkinson's disease. The S18Y mutant is initially reported as a polymorphism, present in approximately 46-61% of those studied in Asian populations, and 16-24% in European Caucasian populations who show a reduced risk of Parkinson's disease | Homo sapiens |
Inhibitors | Comment | Organism | Structure |
---|---|---|---|
1-(3',4'-dihydroxybenzyl)-1,2,3,4-tetrahydroisoquinoline | the enzyme is covalently modified by the endogenous parkinsonism inducing dopamine derivative. 1-(3',4'-dihydroxybenzyl)-1,2,3,4-tetrahydroisoquinoline binds UCH-L1 specifically at Cys152 in vitro. This increases the amount of insoluble UCH-L1 and reduces its hydrolase activity in SH-SY5Y cells | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
cytoplasm | UCH-L1 exhibits strong, uniform cytoplasmic staining in neurons throughout the brain | Homo sapiens | 5737 | - |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P09936 | - |
- |
Mus musculus | Q9R0P9 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
brain | ubiquitin C-terminal hydrolase L1 is an extremely abundant protein in the brain. It is estimated to make up 1-5% of total neuronal protein | Homo sapiens | - |
brain | ubiquitin C-terminal hydrolase L1 is an extremely abundant protein in the brain. It is estimated to make up 1-5% of total neuronal protein | Mus musculus | - |
breast cancer cell | present in cancerous cells originating from tissues that do not normally express UCH-L1, including pancreatic cancer, colorectal cancer and invasive breast cancer | Homo sapiens | - |
colorectal cancer cell | present in cancerous cells originating from tissues that do not normally express UCH-L1, including pancreatic cancer, colorectal cancer and invasive breast cancer | Homo sapiens | - |
fibroblast | weakly expressed in fibroblasts during wound healing | Homo sapiens | - |
gonad | low level | Homo sapiens | - |
neuron | beyond its expression in neurons UCH-L1 has only very limited expression | Homo sapiens | - |
neuron | beyond its expression in neurons UCH-L1 has only very limited expression in other healthy tissues but it is highly expressed in several forms of cancer | Mus musculus | - |
pancreatic cancer cell | present in cancerous cells originating from tissues that do not normally express UCH-L1, including pancreatic cancer, colorectal cancer and invasive breast cancer | Homo sapiens | - |
Synonyms | Comment | Organism |
---|---|---|
ubiquitin C-terminal hydrolase L1 | - |
Homo sapiens |
ubiquitin C-terminal hydrolase L1 | - |
Mus musculus |
UCH-L1 | - |
Homo sapiens |
UCH-L1 | - |
Mus musculus |
General Information | Comment | Organism |
---|---|---|
malfunction | UCH-L1 dysfunction is implicated in neurodegenerative disease | Homo sapiens |
malfunction | UCH-L1 dysfunction is implicated in neurodegenerative disease | Mus musculus |
physiological function | the enzyme is not essential for neuronal development but it is absolutely required for the maintenance of axonal integrity | Homo sapiens |
physiological function | UCH-L1 is required for the maintenance of axonal integrity | Mus musculus |