GenAge entry for UCHL1 (Homo sapiens)

Gene name (HAGRID: 136)

HGNC symbol
UCHL1 
Aliases
PGP9.5; Uch-L1; PARK5 
Common name
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) 

Potential relevance to the human ageing process

Main reason for selection
Entry selected based on indirect or inconclusive evidence linking the gene product to ageing in humans or in one or more model systems
Description

UCHL1 has both ligase and hydrolase activities [689], and it may be involved in protein degradation. Results from lower life forms implicate similar stress-response proteins in ageing. In humans, there is evidence linking UCHL1 mutations to Parkinson's disease [687]. Brain ageing and neurodegenerative diseases in humans have also been associated with the progressive accumulation of ubiquitinated protein conjugates, which are pathologically similar to the degeneration found in mice with disrupted UCHL1 [1696]. Nonetheless, it is unclear whether UCHL1 is related to human ageing.

Cytogenetic information

Cytogenetic band
4p14
Location
41,256,881 bp to 41,268,429 bp
Orientation
Plus strand
Display region using the UCSC Genome Browser (GRCh38/hg38)

Protein information

Gene Ontology
Process: GO:0002931; response to ischemia
GO:0007412; axon target recognition
GO:0007628; adult walking behavior
GO:0008283; cell proliferation
GO:0016241; regulation of macroautophagy
GO:0016579; protein deubiquitination
GO:0019233; sensory perception of pain
GO:0019896; axonal transport of mitochondrion
GO:0042755; eating behavior
GO:0043161; proteasome-mediated ubiquitin-dependent protein catabolic process
GO:0043407; negative regulation of MAP kinase activity
And 3 more GO terms
Cellular component: GO:0005654; nucleoplasm
GO:0005737; cytoplasm
GO:0005789; endoplasmic reticulum membrane
GO:0005829; cytosol
GO:0005886; plasma membrane
GO:0043025; neuronal cell body
GO:0043209; myelin sheath
GO:0044306; neuron projection terminus
GO:0070062; extracellular exosome
GO:1904115; axon cytoplasm
Function: GO:0004197; cysteine-type endopeptidase activity
GO:0004843; thiol-dependent ubiquitin-specific protease activity
GO:0005515; protein binding
GO:0008242; omega peptidase activity
GO:0016874; ligase activity
GO:0031625; ubiquitin protein ligase binding
GO:0031694; alpha-2A adrenergic receptor binding
GO:0043130; ubiquitin binding
Show all GO terms

Protein interactions and network

Protein-protein interacting partners in GenAge
TP53, AKT1, EGFR, HSP90AA1, UBE2I, APP, HSPA8, CDK1, MDM2, CTNNB1, CDKN2A
STRING interaction network
Protein-Protein network diagram for UCHL1

Retrieve sequences for UCHL1

Promoter
Promoter
ORF
ORF
CDS
CDS

Homologs in model organisms

Caenorhabditis elegans
ubh-2
Danio rerio
uchl1
Drosophila melanogaster
Uch
Mus musculus
Uchl1
Rattus norvegicus
Uchl1
Saccharomyces cerevisiae
YUH1
Schizosaccharomyces pombe
uch1

In other databases

GenAge model organism genes
  • A homolog of this gene for Saccharomyces cerevisiae is present as YUH1

Selected references

External links

EPD
HS_UCHL1
ORF Accession
NM_004181
CDS Accession
NP_004172
OMIM
191342
HPRD
01877
Ensembl
UCHL1
UniProt/Swiss-Prot
UCHL1_HUMAN
GeneCards
UCHL1
Entrez Gene
7345
UniGene
518731
GenAtlas
UCHL1
Internet
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