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
Thisse Expression Data
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 79 Alliance 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:Q7ZTI4 218
UniProtKB:Q6YI49 218
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations