| Symbol
| UCHL1
| contributors: mct/npt/pgu - updated : 11-04-2018
|
| HGNC name
| ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
|
| HGNC id
| 12513
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
|
| --over
|
| |
in non-small cell lung cancer | | tumoral
|
|
| --low
|
| |
in cervical tumor (by hypermethylation) | | constitutional
|
|
| --low
|
| |
in Huntington diseaseand Alzheimer disease, and in replaceable neurons of hippocampus and olfactory bulb | | constitutional
|
|
| --over
|
|
robustly increased in spinal muscular atrophy (SMA) patient fibroblasts  | | constitutional
|
|
|
| loss of function
| |
defective UCHL1 function may be an early contributor to vulnerability of pancreatic beta-cells for protein misfolding and proteotoxicity, hallmark defects in islets of T2DM | |
| Susceptibility
|
to Parkinson disease to Alzheimer disease (AD) |
| Variant & Polymorphism
other
| S18Y polymorphism influencing the variability in age-onset of Huntington disease |
|
carbonyl modification and subsequent abnormal interactions of carbonyl-modified UCHL1 with multiple proteins, including tubulin, constitute one of the causes of sporadic Parkinson disease |
|
not protective effect of the UCHL1 S18Y polymorphism against AD |
| 
|
| Candidate gene
| role of GFAP and UCHL1 as candidate biomarkers for pediatric traumatic brain injury (TBI) |
| Marker
| reliable and potential biomarker of neuronal damage after acute neurologic insults, such as ischemic stroke, subarachnoid hemorrhage, and traumatic brain injury |
|
aberrant DNA methylation of HTATIP2 and UCHL1, may serve as a potential predictive biomarker for Cholangiocarcinoma (CCA) |
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| neurology | neurodegenerative | Parkinson/dementia Parkinsonism | |
| potential target for Parkinson-modifying therapies | | neurology | neurodegenerative | alzheimer | |
| overexpression of UCHL1 may be a safe and effective disease-modifying strategy to treat AD | | miscelleaneous | urinary | chronic kidney disease | |
| NFKB1-UCH-L1 interaction could be a novel therapeutic strategy for the treatment of podocyte lesions and proteinuria |
| |
|
| gracile axonal dystrophic mouse (gad) which arbors a deletion of Uchl1 | |
pharmacological inhibition of Uchl1 exacerbates rather than ameliorates disease symptoms in a mouse model of SMA |
|
Uchl1 knockout mice should serve as a useful model of gut aging |