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 enable cysteine-type deubiquitinase activity. Predicted to be involved in protein deubiquitination. Predicted to act upstream of or within proteolysis. Predicted to be located in endoplasmic reticulum membrane. Predicted to be active in 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 79. 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