UCHL1 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | UCHL1 |
| Official Name | ubiquitin C-terminal hydrolase L1 [Source:HGNC Symbol;Acc:HGNC:12513] |
| Ensembl ID | ENSG00000154277 |
| Bio databases IDs | |
| Aliases | ubiquitin C-terminal hydrolase L1, ubiquitin thiolesterase |
| Synonyms | gad, HEL-117, HEL-S-53, NDGOA, PARK5, Pgp, PGP95, PGP 9.5, SPG79, SPG79A, Ubiquitin carboxyl-terminal hydrolase isozyme L1, Ubiquitin Carboxy-terminal Hydrolase L1, UBIQUITIN C-TERMINAL HYDROLASE ISOENZYME L1, ubiquitin C-terminal hydrolase L1, UCH |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human UCHL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- ubiquitin protein ligase binding
- polygalacturonase
- omega peptidase
- peptidase
- G-protein-coupled receptor binding
- receptor inhibitor
- ubiquitin binding
- enzyme
- protein binding
- cysteine peptidase C12
- ubiquitin thiolesterase
- cysteine endopeptidase
- ribosome binding
- ubiquitin-specific protease
Pathways
Biological processes and signaling networks where the UCHL1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- lung adenocarcinoma
- lung adenocarcinoma formation
- Parkinson disease
- motor dysfunction
- familial Parkinson disease
- organismal death
- degenerative disc disease
- childhood-onset neurodegeneration with optic atrophy
- non-insulin-dependent diabetes mellitus
role in cell
- phosphorylation in
- expression in
- migration
- binding in
- degradation in
- cell death
- apoptosis
- loss
- density
- growth
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- myelin enriched fraction
- soluble fraction
- Nucleus
- Plasma Membrane
- cytosol
- nucleoplasm
- nucleoli
- nerve ending
- membrane processes
- perikaryon
- axons
- Merkel nerve endings
- plasma
- sensory axons
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human UCHL1 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- protein deubiquitination
- negative regulation of MAP kinase activity
- muscle cell development
- neuromuscular process
- male germ cell proliferation
- axon target recognition
- positive regulation of glycolysis
- eating behavior
- adult walking behavior
- proteasomal ubiquitin-dependent protein catabolic process
- response to ischemia
- regulation of macroautophagy
- cellular response to xenobiotic stimulus
- axon transport of mitochondrion
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- cytoplasm
- cytosol
- neuronal cell body
- neuron projection terminus
- plasma membrane
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ubiquitin-specific protease activity
- ubiquitin protein ligase binding
- protein binding
- ubiquitin binding
- omega peptidase activity
- cysteine-type endopeptidase activity
- alpha-2A adrenergic receptor binding