PIGO Gene Summary [Human]
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Details
| Type | Protein Coding |
| Official Symbol | PIGO |
| Official Name | phosphatidylinositol glycan anchor biosynthesis class O [Source:HGNC Symbol;Acc:HGNC:23215] |
| Ensembl ID | ENSG00000165282 |
| Bio databases IDs | |
| Aliases | phosphatidylinositol glycan anchor biosynthesis class O |
| Synonyms | HPMRS2, phosphatidylinositol glycan anchor biosynthesis class O, phosphatidylinositol glycan anchor biosynthesis, class O |
| 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 PIGO 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
- Sulfatase
- enzyme
- protein binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- hereditary disorder
- hyperphosphatasia with mental retardation syndrome type 2
- hyperphosphatasia with mental retardation syndrome type 1
- complex neurodevelopmental disorder
regulates
- glycosylphosphatidylinositol
role in cell
- dipeptide repeat protein sensitivity
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
- endoplasmic reticulum membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PIGO gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- GPI anchor biosynthetic process
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
Molecular Function
What the gene product does at the molecular level
- mannose-ethanolamine phosphotransferase activity