PIGK Gene Summary [Human]
This gene encodes a member of the cysteine protease family C13 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 a member of the multisubunit enzyme, GPI transamidase and is thought to be its enzymatic component. GPI transamidase mediates GPI anchoring in the endoplasmic reticulum, by catalyzing the transfer of fully assembled GPI units to proteins. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | PIGK |
| Official Name | phosphatidylinositol glycan anchor biosynthesis class K [Source:HGNC Symbol;Acc:HGNC:8965] |
| Ensembl ID | ENSG00000142892 |
| Bio databases IDs | |
| Aliases | phosphatidylinositol glycan anchor biosynthesis class K, GPI transamidase subunit |
| Synonyms | 3000001O05Rik, Gm38470, GPI8, NEDHCAS, phosphatidylinositol glycan anchor biosynthesis class K, phosphatidylinositol glycan anchor biosynthesis, class K |
| 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 PIGK often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- CASc
- lipid binding
- binding protein
- GPI-anchor transamidase
- peptidase
- protein binding
- phosphatidylinositol binding
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 with hypotonia and cerebellar atrophy without seizures
- neurodevelopmental disorder with hypotonia and cerebellar atrophy with or without seizures
- neurodevelopmental disorder with hypotonia and cerebellar atrophy with seizures
- infection by HIV-1
regulates
- ALPP
- glycosylphosphatidylinositol
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
- mitochondria-associated membranes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PIGK gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- proteolysis
- attachment of GPI anchor to protein
Cellular Component
Where in the cell the gene product is active
- endoplasmic reticulum membrane
- membrane
- GPI-anchor transamidase complex
Molecular Function
What the gene product does at the molecular level
- protein disulfide isomerase activity
- protein binding
- GPI-anchor transamidase activity
- GPI anchor binding