|phosphatidylinositol glycan anchor biosynthesis, class A||OKDB#: 1775|
|Synonyms:||GPI3, PIG-A, PAROXYSMAL NOCTURNAL HEMOGLOBINURIA, INCLUDED, PNH, INCLUDED| PHOSPHATIDYLINOSITOL GLYCAN, CLASS A, PSEUDOGENE 1, INCLUDED, PIGAP1, INCLUDED| PIGA-RELATED PROCESSED GENE, INCLUDED|||Locus:||Xp22.1 in Homo sapiens|
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Many cell surface proteins are anchored to the membrane by a glycolipid termed the glycosylphosphatidylinositol (GPI) anchor, which is covalently attached to the C-terminus of the peptide. The core of the GPI anchor consists of multiple components and its biosynthesis involves multiple genes, such as those for glycosyltransferases. By expression cloning methods, Miyata et al. (1993) cloned a gene they termed PIGA (for phosphatidylinositol glycan class A) which takes part in the synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first intermediate in the biosynthetic pathway of GPI anchor.
NCBI Summary: 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]
|Cellular localization||Cytoplasmic, Plasma membrane|
|Ovarian function||Early embryo development|
|Comment||GPI-anchor Synthesis Is Indispensable for the Germline Development of the Nematode Caenorhabditis elegans. Murata D et al. Glycosylphosphatidylinositol (GPI)-anchor attachment is one of the most common post-translational protein modifications. Using the nematode Caenorhabditis elegans, we determined that GPI-anchored proteins are present in germline cells and distal tip cells (DTCs), which are essential for the maintenance of the germline stem cell niche. We identified 24 C. elegans genes involved in GPI-anchor synthesis. Inhibition of various steps of GPI-anchor synthesis by RNAi or gene knockout resulted in abnormal development of oocytes and early embryos, and both lethal and sterile phenotypes were observed. The piga-1 gene (ortholog of human PIGA) codes for the catalytic subunit of the phosphatidylinositol N-acetylglucosaminyltransferase complex, which catalyzes the first step of GPI-anchor synthesis. We isolated piga-1 knockout worms and found that GPI-anchor synthesis is indispensable for the maintenance of mitotic germline cell number. The knockout worms displayed 100% lethality with decreased mitotic germline cells and abnormal eggshell formation. Using cell-specific rescue of the null allele, we showed that expression of piga-1 in somatic gonads and/or in germline is sufficient for normal embryonic development and the maintenance of the germline mitotic cells. These results clearly demonstrate that GPI-anchor synthesis is indispensable for germline formation and for normal development of oocytes and eggs.|
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|created:||April 16, 2003, 7:53 a.m.||by:||
|last update:||Feb. 8, 2012, 12:32 p.m.||by:||hsueh email:|
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