ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Target id: 2426

Nomenclature: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

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 carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
Mouse - 223 5 C3.1 Uchl1 ubiquitin carboxy-terminal hydrolase L1
Rat - 223 14p11 Uchl1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
Previous and Unofficial Names
gad
gracile axonal dystrophy
PARK5
ubiquitin thioesterase L1
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
Enzyme Reaction
EC Number: 3.4.19.12
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

How to cite this page

C12: Ubiquitin C-terminal hydrolase: ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase). Last modified on 20/02/2015. Accessed on 19/04/2015. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2426.