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UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_004181 Homo sapiens ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase) (UCHL1), mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

*Business Day

Related Services

Gene Symbol UCHL1
Entrez Gene ID 7345
Full Name ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
Synonyms HEL-117, NDGOA, PARK5, PGP 9.5, PGP9.5, PGP95, Uch-L1
General protein information
Preferred Names
ubiquitin carboxyl-terminal hydrolase isozyme L1
Names
ubiquitin carboxyl-terminal hydrolase isozyme L1
ubiquitin thioesterase L1
neuron cytoplasmic protein 9.5
ubiquitin C-terminal hydrolase
NP_004172.2
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

4

4p14

Summary 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].
Disorder

MIM: 191342

{Parkinson disease 5, susceptibility to}, 613643 (3); {Parkinson

mRNA Protein Product Sequence Price Select
NM_004181, 239835751 NP_004172, 21361091 ubiquitin carboxyl-terminal hydrolase isozyme L1 ORF Sequence $159.00
KEGG
hsa05012Parkinson's disease
WikiPathways
WP183Proteasome Degradation
WP2371Parkinsons Disease Pathway
Pathway Interaction Database
alphasynuclein_pathwayAlpha-synuclein signaling
Homo sapiens (human)UCHL1NP_004172.2
Pan troglodytes (chimpanzee)UCHL1XP_517163.2
Macaca mulatta (Rhesus monkey)LOC701579XP_001097839.2
Canis lupus familiaris (dog)UCHL1XP_536245.3
Bos taurus (cattle)UCHL1NP_001039637.1
Mus musculus (house mouse)Uchl1NP_035800.2
Rattus norvegicus (Norway rat)Uchl1NP_058933.2
Gallus gallus (chicken)UCHL1NP_001073681.1
Danio rerio (zebrafish)uchl1NP_958885.1
Xenopus (Silurana) tropicalis (western clawed frog)uchl1NP_001011321.1
Process
IDNameEvidence
GO:0002931response to ischemiaIEA
GO:0006511ubiquitin-dependent protein catabolic processIEA
GO:0007412axon target recognitionIEA
GO:0007628adult walking behaviorIEA
GO:0008219cell deathIEA
GO:0008283cell proliferationIEA
GO:0016579protein deubiquitinationIDA
GO:0019233sensory perception of painIEA
GO:0019896axon transport of mitochondrionIEA
GO:0042755eating behaviorIEA
GO:0043407negative regulation of MAP kinase activityIDA
GO:0048747muscle fiber developmentIEA
GO:0050905neuromuscular processIEA
Component
IDNameEvidence
GO:0005634nucleusIDA
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
GO:0005737cytoplasmISS
GO:0005737cytoplasmTAS
GO:0005789endoplasmic reticulum membraneIEA
GO:0005829cytosolIEA
GO:0005886plasma membraneIDA
GO:0030424axonIEA
GO:0043025neuronal cell bodyIEA
GO:0070062extracellular vesicular exosomeIDA
Function
IDNameEvidence
GO:0004197cysteine-type endopeptidase activityIDA
GO:0004221ubiquitin thiolesterase activityTAS
GO:0004843ubiquitin-specific protease activityIEA
GO:0005515protein bindingIPI
GO:0008242omega peptidase activityIDA
GO:0016874ligase activityIEA
GO:0031694alpha-2A adrenergic receptor bindingIPI
GO:0043130ubiquitin bindingIDA
GeneCards UCHL1
PDB 2LEN, 2ETL, 3IFW, 4DM9, 3IRT, 3KW5, 3KVF
UniProt V9HW74, P09936
Vega OTTHUMG00000099377
MIM 191342
Ensembl ENSG00000154277
HGNC 12513
HPRD 01877

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the UCHL1 gene?

The UCHL1 gene provides instructions for making an enzyme called ubiquitin carboxyl-terminal esterase L1. This enzyme is found in nerve cells throughout the brain. Ubiquitin carboxyl-terminal esterase L1 is probably involved in the cell machinery that breaks down (degrades) unneeded proteins. In cells, damaged or excess proteins are tagged with molecules called ubiquitin. Ubiquitin serves as a signal to move these unneeded proteins into specialized structures known as proteasomes, where the proteins are degraded. The ubiquitin-proteasome system acts as the cell's quality control system by disposing of damaged, misshapen, and excess proteins.

Although the exact function of ubiquitin carboxyl-terminal esterase L1 is not fully understood, it appears to have two types of enzyme activity. One of these, called hydrolase activity, removes and recycles ubiquitin molecules from degraded proteins. This recycling step is important to sustain the degradation process. The other enzyme function, known as ligase activity, links together ubiquitin molecules for use in tagging proteins for disposal.

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