Gene
ppt1
- ID
- ZDB-GENE-040426-2653
- Name
- palmitoyl-protein thioesterase 1 (ceroid-lipofuscinosis, neuronal 1, infantile)
- Symbol
- ppt1 Nomenclature History
- Previous Names
-
- wu:fj17f04
- zgc:63969
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to enable long-chain fatty acyl-CoA hydrolase activity and palmitoyl-(protein) hydrolase activity. Predicted to be involved in endocytosis and nervous system development. Predicted to be active in extracellular region and lysosome. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 1. Orthologous to human PPT1 (palmitoyl-protein thioesterase 1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:63969 (1 image)
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 |
|---|---|---|---|
| neuronal ceroid lipofuscinosis 1 | Alliance | Ceroid lipofuscinosis, neuronal, 1 | 256730 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Alpha/Beta hydrolase fold | Palmitoyl protein thioesterase |
|---|---|---|---|
|
UniProtKB:F1R8J6
|
303 | ||
|
UniProtKB:Q7T3C4
|
303 |
Interactions and Pathways
No data available
Plasmids
No data available