Gene
pgap1
- ID
- ZDB-GENE-090313-216
- Name
- post-GPI attachment to proteins inositol deacylase 1
- Symbol
- pgap1 Nomenclature History
- Previous Names
-
- si:dkey-191g15.7
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Predicted to have phosphatidylinositol deacylase activity. Predicted to be involved in GPI anchor metabolic process and endoplasmic reticulum to Golgi vesicle-mediated transport. Predicted to localize to endoplasmic reticulum. Human ortholog(s) of this gene implicated in autosomal recessive non-syndromic intellectual disability. Orthologous to human PGAP1 (post-GPI attachment to proteins inositol deacylase 1).
- Genome Resources
- 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
- 1 Figure from Chassaing et al., 2012
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities | 615802 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Alpha/Beta hydrolase fold | GPI inositol-deacylase | GPI inositol-deacylase PGAP1-like |
|---|---|---|---|---|
|
UniProtKB:A0A8M9PSV5
|
939 |
Interactions and Pathways
No data available
Plasmids
No data available