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. Is expressed in nervous system; neural tube; and trigeminal placode. Human ortholog(s) of this gene implicated in Alzheimer's disease; Parkinson's disease; and hereditary spastic paraplegia. Orthologous to human UCHL1 (ubiquitin C-terminal hydrolase L1).
Genome Resources
Note
None
Expression
All Expression Data
11 figures from 6 publications
Cross-Species Comparison
High Throughput Data
No data available
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
Spastic paraplegia 79, 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
Family IPR030297 Ubiquitin carboxyl-terminal hydrolase L1
Homologous_superfamily IPR036959 Peptidase C12, ubiquitin carboxyl-terminal hydrolase superfamily
Homologous_superfamily IPR038765 Papain-like cysteine peptidase superfamily
Domain Details Per Protein
Protein Length Papain-like cysteine peptidase superfamily Peptidase C12, ubiquitin carboxyl-terminal hydrolase Peptidase C12, ubiquitin carboxyl-terminal hydrolase superfamily Ubiquitin carboxyl-terminal hydrolase L1
UniProtKB:Q6YI49 218
UniProtKB:Q7ZTI4 218
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations