PIGN Gene Summary [Human]
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PIGN |
| Official Name | phosphatidylinositol glycan anchor biosynthesis class N [Source:HGNC Symbol;Acc:HGNC:8967] |
| Ensembl ID | ENSG00000197563 |
| 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 | Human, Homo sapiens |
| 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 human 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 human 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