PIGA

From Wikipedia, the free encyclopedia

Phosphatidylinositol glycan anchor biosynthesis, class A (paroxysmal nocturnal hemoglobinuria)

Identifiers

PIGA; GPI3; PIG-A

External IDs

OMIM: 311770 MGI: 99461 HomoloGene: 1982

Gene ontology
Molecular Function:	• protein binding • transferase activity, transferring glycosyl groups • phosphatidylinositol N-acetylglucosaminyltransferase activity
Cellular Component:	• glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex • endoplasmic reticulum • endoplasmic reticulum membrane • membrane • integral to membrane
Biological Process:	• GPI anchor biosynthetic process • biosynthetic process • positive regulation of metabolic process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_002641 (mRNA)
NP_002632 (protein)

NM_011081 (mRNA)
NP_035211 (protein)

Location

Chr X: 15.25 - 15.26 Mb

Chr X: 159.76 - 159.78 Mb

Pubmed search

[1]

[2]

Phosphatidylinositol glycan anchor biosynthesis, class A (paroxysmal nocturnal hemoglobinuria), also known as PIGA, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: PIGA phosphatidylinositol glycan anchor biosynthesis, class A (paroxysmal nocturnal hemoglobinuria).

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.