PIGW Gene Summary [Human]
The protein encoded by this gene is an inositol acyltransferase that acylates the inositol ring of phosphatidylinositol. This occurs in the endoplasmic reticulum and is a step in the biosynthesis of glycosylphosphatidylinositol (GPI), which anchors many cell surface proteins to the membrane. Defects in this gene are a cause of the age-dependent epileptic encephalopathy West syndrome as well as a syndrome exhibiting hyperphosphatasia and cognitive disability (HPMRS5). [provided by RefSeq, Jul 2017]
Details
| Type | Protein Coding |
| Official Symbol | PIGW |
| Official Name | phosphatidylinositol glycan anchor biosynthesis class W [Source:HGNC Symbol;Acc:HGNC:23213] |
| Ensembl ID | ENSG00000275600 |
| Bio databases IDs | |
| Aliases | phosphatidylinositol glycan anchor biosynthesis class W |
| Synonyms | 2610044A17RIK, Gwt1, HPMRS5, phosphatidylinositol glycan anchor biosynthesis class W, phosphatidylinositol glycan anchor biosynthesis, class W |
| 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 PIGW often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- GWT1
- enzyme
- O-acyltransferase
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
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
- Golgi Apparatus
- Endoplasmic Reticulum
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PIGW gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- GPI anchor metabolic process
- GPI anchor biosynthetic process
- preassembly of GPI anchor in ER membrane
- protein localization in plasma membrane
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
Molecular Function
What the gene product does at the molecular level
- O-acyltransferase activity
- glucosaminyl-phosphotidylinositol O-acyltransferase activity