Gene
pigq
- ID
- ZDB-GENE-030131-9793
- Name
- phosphatidylinositol glycan anchor biosynthesis, class Q
- Symbol
- pigq Nomenclature History
- Previous Names
-
- cb359 (1)
- sb:cb359
- wu:fa03b07
- zgc:64027
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to contribute to phosphatidylinositol N-acetylglucosaminyltransferase activity. Predicted to be involved in GPI anchor biosynthetic process. Predicted to localize to glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex. Human ortholog(s) of this gene implicated in early infantile epileptic encephalopathy. Is expressed in blood; intermediate cell mass of mesoderm; and ventral mesoderm. Orthologous to human PIGQ (phosphatidylinositol glycan anchor biosynthesis class Q).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from Thisse et al., 2001
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb359 (4 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Palermo et al., 2023
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| multiple congenital anomalies-hypotonia-seizures syndrome 4 | Alliance | Multiple congenital anomalies-hypotonia-seizures syndrome 4 | 618548 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR007720 | Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q/GPI1 |
Domain Details Per Protein
| Protein | Length | Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q/GPI1 |
|---|---|---|
|
UniProtKB:Q7T389
|
584 | |
|
UniProtKB:F1QHT3
|
584 |
Interactions and Pathways
No data available
Plasmids
No data available