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
-
- All Expression Data
- 11 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb358 (39 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Papain-like cysteine peptidase superfamily | Peptidase C12, ubiquitin carboxyl-terminal hydrolase | Peptidase C12, ubiquitin carboxyl-terminal hydrolase superfamily |
|---|---|---|---|---|
|
UniProtKB:Q7ZTI4
|
218 |
Interactions and Pathways
No data available
Plasmids
No data available