PIGA Gene Summary [Human]
This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A related pseudogene is located on chromosome 12. [provided by RefSeq, Jun 2010]
Details
| Type | Processed Transcript |
| Official Symbol | PIGA |
| Official Name | phosphatidylinositol glycan anchor biosynthesis class A [Source:HGNC Symbol;Acc:HGNC:8957] |
| Ensembl ID | ENSG00000165195 |
| Bio databases IDs | |
| Aliases | phosphatidylinositol glycan anchor biosynthesis class A, paroxysmal nocturnal hemoglobinuria, phosphatidylinositol N-acetylglucosaminyltransferase |
| Synonyms | GPI3, MCAHS2, NEDEPH, phosphatidylinositol glycan anchor biosynthesis class A, phosphatidylinositol glycan anchor biosynthesis, class A, PNH1 |
| 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 PIGA often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- glycosyltransferase family 1 and related proteins with GTB topology
- phosphatidylinositol N-acetylglucosaminyltransferase
- enzyme
- protein binding
- UDP-glycosyltransferase
- Glycosyl transferases group 1
- Glycosyltransferase Family 4
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- paroxysmal nocturnal hemoglobinuria
- paroxysmal nocturnal hemoglobinuria type 1
- hereditary disorder
- complex neurodevelopmental disorder
- ferro-cerebro-cutaneous syndrome
- multiple congenital anomalies-hypotonia-seizures syndrome type 2
- exencephaly
- primary central nervous system lymphoma
- primary cancer
- lymphomagenesis
role in cell
- quantity
- colony formation
- degranulation
- binding in
- tyrosine phosphorylation in
- association in
- abnormal morphology
- morphogenesis
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 membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PIGA 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
- glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex
- membrane
Molecular Function
What the gene product does at the molecular level
- UDP-glycosyltransferase activity
- protein binding
- phosphatidylinositol N-acetylglucosaminyltransferase activity