Gene
pnpla1
- ID
- ZDB-GENE-140912-3
- Name
- patatin-like phospholipase domain containing 1
- Symbol
- pnpla1 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to enable hydrolase activity. Predicted to act upstream of or within lipid catabolic process. Predicted to be located in membrane. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 10. Orthologous to human PNPLA1 (patatin like phospholipase domain containing 1).
- Genome Resources
-
- Alliance (1)
- Gene:101885488 (1)
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| autosomal recessive congenital ichthyosis 10 | Alliance | Ichthyosis, congenital, autosomal recessive 10 | 615024 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Acyl transferase/acyl hydrolase/lysophospholipase | Patatin-like phospholipase domain | Patatin-like phospholipase domain-containing protein |
|---|---|---|---|---|---|
| UniProtKB:A0A8M9P5A9 | InterPro | 406 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance