PIGA

Phosphatidylinositol glycan anchor biosynthesis, class A (paroxysmal nocturnal hemoglobinuria)
Identifiers
Symbols	PIGA ; GPI3; PIG-A
External IDs	Template:OMIM5 Template:MGI HomoloGene: 1982
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE PIGA 205281 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Phosphatidylinositol glycan anchor biosynthesis, class A (paroxysmal nocturnal hemoglobinuria), also known as PIGA, is a human gene.

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.

Further reading

• Brodsky RA, Hu R (2007). "PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis". Leuk. Lymphoma. 47 (7): 1215–21. doi:10.1080/10428190600555520. PMID 16923549.
• Miyata T, Takeda J, Iida Y; et al. (1993). "The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis". Science. 259 (5099): 1318–20. PMID 7680492.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yu J, Nagarajan S, Ueda E; et al. (1994). "Characterization of alternatively spliced PIG-A transcripts in normal and paroxysmal nocturnal hemoglobinuria cells". Braz. J. Med. Biol. Res. 27 (2): 195–201. PMID 8081230.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bessler M, Hillmen P, Longo L; et al. (1994). "Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21". Hum. Mol. Genet. 3 (5): 751–7. PMID 8081362.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ware RE, Rosse WF, Howard TA (1994). "Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria". Blood. 83 (9): 2418–22. PMID 8167330.CS1 maint: Multiple names: authors list (link)
• Iida Y, Takeda J, Miyata T; et al. (1994). "Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria". Blood. 83 (11): 3126–31. PMID 8193350.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bessler M, Mason PJ, Hillmen P; et al. (1994). "Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene". EMBO J. 13 (1): 110–7. PMID 8306954.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Takeda J, Miyata T, Kawagoe K; et al. (1993). "Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria". Cell. 73 (4): 703–11. PMID 8500164.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Savoia A, Ianzano L, Lunardi C; et al. (1996). "Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients". Hum. Genet. 97 (1): 45–8. PMID 8557259.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Watanabe R, Kinoshita T, Masaki R; et al. (1996). "PIG-A and PIG-H, which participate in glycosylphosphatidylinositol anchor biosynthesis, form a protein complex in the endoplasmic reticulum". J. Biol. Chem. 271 (43): 26868–75. PMID 8900170.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Watanabe R, Inoue N, Westfall B; et al. (1998). "The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1". EMBO J. 17 (4): 877–85. doi:10.1093/emboj/17.4.877. PMID 9463366.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nafa K, Bessler M, Castro-Malaspina H; et al. (1999). "The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications". Blood Cells Mol. Dis. 24 (3): 370–84. doi:10.1006/bcmd.1998.0203. PMID 10087994.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Watanabe R, Murakami Y, Marmor MD; et al. (2000). "Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2". EMBO J. 19 (16): 4402–11. doi:10.1093/emboj/19.16.4402. PMID 10944123.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Yoon JH, Cho HI, Park SS; et al. (2002). "Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria". J. Clin. Pathol. 55 (6): 410–3. PMID 12037021.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nagakura S, Ishihara S, Dunn DE; et al. (2002). "Decreased susceptibility of leukemic cells with PIG-A mutation to natural killer cells in vitro". Blood. 100 (3): 1031–7. PMID 12130519.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kai T, Shichishima T, Noji H; et al. (2003). "Phenotypes and phosphatidylinositol glycan-class A gene abnormalities during cell differentiation and maturation from precursor cells to mature granulocytes in patients with paroxysmal nocturnal hemoglobinuria". Blood. 100 (10): 3812–8. doi:10.1182/blood.V100.10.3812. PMID 12411324.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Mortazavi Y, Merk B, McIntosh J; et al. (2003). "The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria (AA/PNH): a high incidence of multiple mutations and evidence of a mutational hot spot". Blood. 101 (7): 2833–41. doi:10.1182/blood-2002-07-2095. PMID 12424196.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)