ubiquitin C-terminal hydrolase L1

Target id: 2426

Nomenclature: ubiquitin C-terminal hydrolase L1

Family: C12: Ubiquitin C-terminal hydrolase

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 223 4p13 UCHL1 ubiquitin C-terminal hydrolase L1
Mouse - 223 5 C3.1 Uchl1 ubiquitin carboxy-terminal hydrolase L1
Rat - 223 14p11 Uchl1 ubiquitin C-terminal hydrolase L1
Previous and Unofficial Names
gad
gracile axonal dystrophy
PARK5
ubiquitin thioesterase L1
ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
Database Links
Specialist databases
MEROPS C12.001 (Hs)
Other databases
BRENDA
ChEMBL Target
Ensembl Gene
Entrez Gene
ExplorEnz
GeneCards
GenitoUrinary Development Molecular Anatomy Project
InterPro
KEGG Enzyme
KEGG Gene
NeXtProt
OMIM
Orphanet
RefSeq Nucleotide
RefSeq Protein
TreeFam
UniGene Hs.
UniProtKB
Wikipedia
Enzyme Reaction
EC Number: 3.4.19.12

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Inhibitors
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Affinity Units Reference
LDN-91946 Hs Inhibition 5.6 pKi 1
pKi 5.6 (Ki 2.3x10-6 M) [1]
Clinically-Relevant Mutations and Pathophysiology
Disease:  Neurodegeneration with optic atrophy, childhood onset
Synonyms: Early-onset progressive neurodegeneration - blindness - ataxia - spasticity [Orphanet: ORPHA352654]
OMIM: 615491
Orphanet: ORPHA352654
Disease:  Parkinson disease 5, autosomal dominant; PARK5
Synonyms: Parkinson's disease [Disease Ontology: DOID:14330]
Disease Ontology: DOID:14330
OMIM: 613643
Disease:  Young adult-onset Parkinsonism
Orphanet: ORPHA2828

References

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1. Mermerian AH, Case A, Stein RL, Cuny GD. (2007) Structure-activity relationship, kinetic mechanism, and selectivity for a new class of ubiquitin C-terminal hydrolase-L1 (UCH-L1) inhibitors. Bioorg. Med. Chem. Lett.17 (13): 3729-32. [PMID:17449248]

How to cite this page

C12: Ubiquitin C-terminal hydrolase: ubiquitin C-terminal hydrolase L1. Last modified on 29/01/2016. Accessed on 11/02/2016. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2426.