Gene

uchl1

ID

ZDB-GENE-030131-3844

Name

ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)

Symbol

uchl1 Nomenclature History

Previous Names

cb358 (1)
wu:fc55h08

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Predicted to have thiol-dependent ubiquitin-specific protease activity. Predicted to be involved in protein deubiquitination. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in Alzheimer's disease; hereditary spastic paraplegia; and late onset Parkinson's disease. Is expressed in nervous system; neural tube; and trigeminal placode. Orthologous to human UCHL1 (ubiquitin C-terminal hydrolase L1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

11 figures from 6 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb358 (39 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With uchl1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
hereditary spastic paraplegia 79A	Alliance	Spastic paraplegia 79A, autosomal dominant	620221
hereditary spastic paraplegia 79B	Alliance	Spastic paraplegia 79B, autosomal recessive	615491
		{?Parkinson disease 5, susceptibility to}	613643

Associated With uchl1 Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR001578	Peptidase C12, ubiquitin carboxyl-terminal hydrolase
Homologous_superfamily	IPR036959	Peptidase C12, ubiquitin carboxyl-terminal hydrolase superfamily
Homologous_superfamily	IPR038765	Papain-like cysteine peptidase superfamily