Aliases for PIGK Gene
External Ids for PIGK Gene
Previous GeneCards Identifiers for PIGK Gene
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]
GeneCards Summary for PIGK Gene
PIGK (Phosphatidylinositol Glycan Anchor Biosynthesis Class K) is a Protein Coding gene. Diseases associated with PIGK include Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures and Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Post-translational modification- synthesis of GPI-anchored proteins. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase activity and GPI anchor binding. An important paralog of this gene is LGMN.
UniProtKB/Swiss-Prot Summary for PIGK Gene
Mediates GPI anchoring in the endoplasmic reticulum, by replacing a protein's C-terminal GPI attachment signal peptide with a pre-assembled GPI. During this transamidation reaction, the GPI transamidase forms a carbonyl intermediate with the substrate protein.