PIGG Gene Summary [Human]
This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | PIGG |
| Official Name | phosphatidylinositol glycan anchor biosynthesis class G [Source:HGNC Symbol;Acc:HGNC:25985] |
| Ensembl ID | ENSG00000174227 |
| Bio databases IDs | |
| Aliases | phosphatidylinositol glycan anchor biosynthesis class G, GPI ethanolamine phosphate transferase 2 |
| Synonyms | EMM, FLJ20265, GPI7, LAS21, MRT53, NEDHSCA, phosphatidylinositol glycan anchor biosynthesis, class G, phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group), PRO4405, RGD1560335, RLGS1930 |
| 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 PIGG 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
- transferase
- enzyme
- GPI ethanolamine phosphate transferase membrane region
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neurodevelopmental disorder, seizures, and cerebellar atrophy with or without hypotonia
- hereditary disorder
- neurodevelopmental disorder with hypotonia and without seizures and cerebellar atrophy
- hyperphosphatasia with mental retardation syndrome type 1
regulated by
regulates
- cyclic AMP
- PIGO
role in cell
- accumulation in
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 PIGG 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
- endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- CP2 mannose-ethanolamine phosphotransferase activity
- phosphotransferase activity, for other substituted phosphate groups
- transferase activity