Pign Gene Summary [Mouse]
Enables mannose-ethanolamine phosphotransferase activity. Involved in GPI anchor biosynthetic process. Is active in endoplasmic reticulum membrane. Is expressed in several structures, including central nervous system and retina. Used to study holoprosencephaly. 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). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Pign |
| Official Name | phosphatidylinositol glycan anchor biosynthesis, class N [Source:MGI Symbol;Acc:MGI:1351629] |
| Ensembl ID | ENSMUSG00000056536 |
| Bio databases IDs | |
| Aliases | phosphatidylinositol glycan anchor biosynthesis, class N |
| Synonyms | Gm20308, LOC100504602, LOC105372158, MCAHS, MCAHS1, MCD4, MDC4, phosphatidylinositol glycan anchor biosynthesis class N, phosphatidylinositol glycan anchor biosynthesis, class N |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Pign often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- alkaline phosphatases and sulfatases
- substituted phosphate group transferase
- Phosphatidylinositolglycan class N (PIG-N)
- Sulfatase
- enzyme
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- preeclampsia
- COVID-19
- hereditary disorder
- multiple congenital anomalies-hypotonia-seizures syndrome type 1
- endocrine system disorder
- global developmental delay with intellectual disability
regulated by
role in cell
- growth
- structural deficit
- stress response in
- missegregation in
- missegregation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- endoplasmic reticulum fraction
- Plasma Membrane
- cytosol
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Pign gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- GPI anchor biosynthetic process
- preassembly of GPI anchor in ER membrane
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- cytosol
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- mannose-ethanolamine phosphotransferase activity