InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: UCHL1

Summary

InnateDB Protein

IDBP-485072.4

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

UCHL1

Protein Name

ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Synonyms

HEL-117; NDGOA; PARK5; PGP 9.5; PGP9.5; PGP95; Uch-L1;

Species

Homo sapiens

Ensembl Protein

ENSP00000422542

InnateDB Gene

IDBG-15224 (UCHL1)

Protein Structure

UniProt Annotation

Function

Ubiquitin-protein hydrolase involved both in the processing of ubiquitin precursors and of ubiquitinated proteins. This enzyme is a thiol protease that recognizes and hydrolyzes a peptide bond at the C-terminal glycine of ubiquitin. Also binds to free monoubiquitin and may prevent its degradation in lysosomes. The homodimer may have ATP-independent ubiquitin ligase activity. {ECO:0000269PubMed:12408865, ECO:0000269PubMed:9790970}.

Subcellular Localization

Cytoplasm {ECO:0000269PubMed:19261853}. Endoplasmic reticulum membrane {ECO:0000269PubMed:19261853}; Lipid-anchor {ECO:0000269PubMed:19261853}. Note=About 30% of total UCHL1 is associated with membranes in brain.

Disease Associations

Parkinson disease 5 (PARK5) [MIM:613643]: 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. {ECO:0000269PubMed:9774100}. Note=The disease is caused by mutations affecting the gene represented in this entry.Neurodegeneration with optic atrophy, childhood-onset (NDGOA) [MIM:615491]: A progressive neurodegenerative syndrome characterized by childhood onset blindness, cerebellar ataxia, nystagmus, dorsal column dysfuction, and spasticity with upper motor neuron dysfunction. {ECO:0000269PubMed:23359680}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Found in neuronal cell bodies and processes throughout the neocortex (at protein level). Expressed in neurons and cells of the diffuse neuroendocrine system and their tumors. Weakly expressed in ovary. Down-regulated in brains from Parkinson disease and Alzheimer disease patients. {ECO:0000269PubMed:14722078, ECO:0000269PubMed:9790970}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 64 experimentally validated interaction(s) in this database.
They are also associated with 7 interaction(s) predicted by orthology.

Experimentally validated
Total	64 [view]
Protein-Protein	61 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	7 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0004197	cysteine-type endopeptidase activity
GO:0004221	ubiquitin thiolesterase activity
GO:0004843	ubiquitin-specific protease activity
GO:0005515	protein binding
GO:0008242	omega peptidase activity
GO:0016874	ligase activity
GO:0031694	alpha-2A adrenergic receptor binding
GO:0043130	ubiquitin binding

Biological Process

GO:0006511	ubiquitin-dependent protein catabolic process
GO:0008219	cell death
GO:0016579	protein deubiquitination
GO:0043407	negative regulation of MAP kinase activity

Cellular Component

GO:0005622	intracellular
GO:0005634	nucleus
GO:0005737	cytoplasm
GO:0005789	endoplasmic reticulum membrane
GO:0005886	plasma membrane
GO:0070062	extracellular vesicular exosome