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  3. p(HGNC:UCHL1, var("?"))

p(HGNC:UCHL1, var("?"))

Equivalencies: 0 | Classes: 0 | Children: 0 | Explore

Entity

Name
UCHL1
Namespace
hgnc
Namespace Version
20180906
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/b46b65c3da259b6e86026514dfececab7c22a11b/external/hgnc-names.belns

Appears in Networks 2

The Ubiquitin Proteasome System in Neurodegenerative Diseases: Sometimes the Chicken, Sometimes the Egg v1.0.0

Tau degradation: the ubiquitin-proteasome system versus the autophagy-lysosome system. v1.0.0

In-Edges 4

p(HGNC:UCHL1) hasVariant p(HGNC:UCHL1, var("?")) View Subject | View Object

Appears in Networks:

path(MESH:"Parkinson Disease") association p(HGNC:UCHL1, var("?")) View Subject | View Object

Recent findings in a German family with PD have revealed a mutation in the gene coding for the ubiquitin carboxy-terminal hydrolase UCH-L1 (Leroy et al., 1998). PubMed:14556719

Appears in Networks:

path(MESH:"Alzheimer Disease") association p(HGNC:UCHL1, var("?")) View Subject | View Object

Mutations in ubiquitin C-terminal hydrolase L1 (UCH-L1) have been proposed to have a role in various neurodegenerative diseases including AD, although the causality of mutations in this gene in Parkinson’s disease is now considered doubtful (Healy et al., 2006; Hutter et al., 2008). PubMed:23528736

Appears in Networks:

path(MESH:"Neurodegenerative Diseases") association p(HGNC:UCHL1, var("?")) View Subject | View Object

Mutations in ubiquitin C-terminal hydrolase L1 (UCH-L1) have been proposed to have a role in various neurodegenerative diseases including AD, although the causality of mutations in this gene in Parkinson’s disease is now considered doubtful (Healy et al., 2006; Hutter et al., 2008). PubMed:23528736

Appears in Networks:

Out-Edges 4

p(HGNC:UCHL1, var("?")) association path(MESH:"Parkinson Disease") View Subject | View Object

Recent findings in a German family with PD have revealed a mutation in the gene coding for the ubiquitin carboxy-terminal hydrolase UCH-L1 (Leroy et al., 1998). PubMed:14556719

Appears in Networks:

p(HGNC:UCHL1, var("?")) decreases bp(GO:"proteasome-mediated ubiquitin-dependent protein catabolic process") View Subject | View Object

The simple explanation is that the mutation leads to a shortage in free ubiquitin that should have been recycled from conjugates, which results in general impairment of the function of the UPS. PubMed:14556719

Appears in Networks:

p(HGNC:UCHL1, var("?")) association path(MESH:"Neurodegenerative Diseases") View Subject | View Object

Mutations in ubiquitin C-terminal hydrolase L1 (UCH-L1) have been proposed to have a role in various neurodegenerative diseases including AD, although the causality of mutations in this gene in Parkinson’s disease is now considered doubtful (Healy et al., 2006; Hutter et al., 2008). PubMed:23528736

Appears in Networks:

p(HGNC:UCHL1, var("?")) association path(MESH:"Alzheimer Disease") View Subject | View Object

Mutations in ubiquitin C-terminal hydrolase L1 (UCH-L1) have been proposed to have a role in various neurodegenerative diseases including AD, although the causality of mutations in this gene in Parkinson’s disease is now considered doubtful (Healy et al., 2006; Hutter et al., 2008). PubMed:23528736

Appears in Networks:

About

BEL Commons is developed and maintained in an academic capacity by Charles Tapley Hoyt and Daniel Domingo-Fernández at the Fraunhofer SCAI Department of Bioinformatics with support from the IMI project, AETIONOMY. It is built on top of PyBEL, an open source project. Please feel free to contact us here to give us feedback or report any issues. Also, see our Publishing Notes and Data Protection information.

If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.