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 35.95 cM	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
Alphafold	P09936 (Hs), Q9R0P9 (Mm), Q00981 (Rn)
BRENDA	3.4.19.12
CATH/Gene3D	3.40.532.10
ChEMBL Target	CHEMBL6159 (Hs)
Ensembl Gene	ENSG00000154277 (Hs), ENSMUSG00000029223 (Mm), ENSRNOG00000002343 (Rn)
Entrez Gene	7345 (Hs), 22223 (Mm), 29545 (Rn)
Human Protein Atlas	ENSG00000154277 (Hs)
KEGG Enzyme	3.4.19.12
KEGG Gene	hsa:7345 (Hs), mmu:22223 (Mm), rno:29545 (Rn)
OMIM	191342 (Hs)
Orphanet	ORPHA120375 (Hs)
Pharos	P09936 (Hs)
RefSeq Nucleotide	NM_004181 (Hs), NM_011670 (Mm), NM_017237 (Rn)
RefSeq Protein	NP_004172 (Hs), NP_035800 (Mm), NP_058933 (Rn)
UniProtKB	P09936 (Hs), Q9R0P9 (Mm), Q00981 (Rn)
Wikipedia	UCHL1 (Hs)

Enzyme Reaction
EC Number: 3.4.19.12

Download all structure-activity data for this target as a CSV file

Inhibitors
Key to terms and symbols	View all chemical structures	Click column headers to sort
Ligand Sp. Action Value Parameter 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