Gene
pign
- ID
- ZDB-GENE-080204-114
- Name
- phosphatidylinositol glycan anchor biosynthesis, class N
- Symbol
- pign Nomenclature History
- Previous Names
-
- zgc:172324
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to have mannose-ethanolamine phosphotransferase activity. Predicted to be involved in GPI anchor biosynthetic process. Predicted to localize to endoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in multiple congenital anomalies-hypotonia-seizures syndrome 1. Orthologous to human PIGN (phosphatidylinositol glycan anchor biosynthesis class N).
- 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
- No data available
- 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 1 | Alliance | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | 614080 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR017852 | GPI ethanolamine phosphate transferase 1, C-terminal |
Domain | IPR037671 | GPI ethanolamine phosphate transferase 1, N-terminal |
Family | IPR002591 | Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase |
Family | IPR007070 | GPI ethanolamine phosphate transferase 1 |
Homologous_superfamily | IPR017850 | Alkaline-phosphatase-like, core domain superfamily |
Domain Details Per Protein
Protein | Length | Alkaline-phosphatase-like, core domain superfamily | GPI ethanolamine phosphate transferase 1 | GPI ethanolamine phosphate transferase 1, C-terminal | GPI ethanolamine phosphate transferase 1, N-terminal | Type I phosphodiesterase/nucleotide pyrophosphatase/phosphate transferase |
---|---|---|---|---|---|---|
UniProtKB:A0A8M3B6M9
|
571 | |||||
UniProtKB:E7EXW2
|
932 |
Interactions and Pathways
No data available
Plasmids
No data available