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PIGA

{{Short description|Protein-coding gene in the species Homo sapiens}}

{{Other uses|Piga (disambiguation){{!}}Piga}}

{{Infobox_gene}}

Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (PIG-A, or phosphatidylinositol glycan, class A) is the catalytic subunit of the phosphatidylinositol N-acetylglucosaminyltransferase enzyme, which in humans is encoded by the PIGA gene.{{cite journal |vauthors=Takeda J, Miyata T, Kawagoe K, Iida Y, Endo Y, Fujita T, Takahashi M, Kitani T, Kinoshita T | title = Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria | journal = Cell | volume = 73 | issue = 4 | pages = 703–11 |date=Jun 1993 | pmid = 8500164 | doi =10.1016/0092-8674(93)90250-T | s2cid = 22122559 }}{{cite web | title = Entrez Gene: PIGA phosphatidylinositol glycan anchor biosynthesis, class A (paroxysmal nocturnal hemoglobinuria)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5277}}

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 serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic disorder, has been shown to result from somatic mutations in this gene. Alternate splice variants have been characterized.

Multiple Congenital Anomalies-Hypotonia-Seizures syndrome type 2 (MCAHS2), also known as PIGA-CDG or PIGA deficiency, has been shown to result from germline mutations in the PIGA gene.{{Cite web|url=https://www.omim.org/entry/311770|title=OMIM Entry 311770 - PHOSPHATIDYLINOSITOL GLYCAN ANCHOR BIOSYNTHESIS CLASS A PROTEIN; PIGA|website=www.omim.org|language=en-us|access-date=2019-04-19}}

Interactions

PIGA has been shown for interact with PIGQ.{{cite journal |last=Watanabe |first=R |author2=Inoue N |author3=Westfall B |author4=Taron C H |author5=Orlean P |author6=Takeda J |author7=Kinoshita T |date=Feb 1998 |title=The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1 |journal=EMBO J. |volume=17 |issue=4 |pages=877–85 | issn = 0261-4189| pmid = 9463366 |doi = 10.1093/emboj/17.4.877 |pmc=1170437 }}

References

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Further reading

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  • {{cite journal |vauthors=Brodsky RA, Hu R |title=PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis |journal=Leuk. Lymphoma |volume=47 |issue= 7 |pages= 1215–21 |year= 2007 |pmid= 16923549 |doi= 10.1080/10428190600555520 |s2cid=26719879 }}
  • {{cite journal |vauthors=Miyata T, Takeda J, Iida Y, etal |title=The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis |journal=Science |volume=259 |issue= 5099 |pages= 1318–20 |year= 1993 |pmid= 7680492 |doi=10.1126/science.7680492 |bibcode=1993Sci...259.1318M }}
  • {{cite journal |vauthors=Yu J, Nagarajan S, Ueda E, etal |title=Characterization of alternatively spliced PIG-A transcripts in normal and paroxysmal nocturnal hemoglobinuria cells |journal=Braz. J. Med. Biol. Res. |volume=27 |issue= 2 |pages= 195–201 |year= 1994 |pmid= 8081230 }}
  • {{cite journal |vauthors=Bessler M, Hillmen P, Longo L, etal |title=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 |journal=Hum. Mol. Genet. |volume=3 |issue= 5 |pages= 751–7 |year= 1994 |pmid= 8081362 |doi=10.1093/hmg/3.5.751 }}
  • {{cite journal |vauthors=Ware RE, Rosse WF, Howard TA |title=Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria |journal=Blood |volume=83 |issue= 9 |pages= 2418–22 |year= 1994 |doi=10.1182/blood.V83.9.2418.2418 |pmid= 8167330 |doi-access=free }}
  • {{cite journal |vauthors=Iida Y, Takeda J, Miyata T, etal |title=Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria |journal=Blood |volume=83 |issue= 11 |pages= 3126–31 |year= 1994 |doi=10.1182/blood.V83.11.3126.3126 |pmid= 8193350 |doi-access=free }}
  • {{cite journal |vauthors=Bessler M, Mason PJ, Hillmen P, etal |title=Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene |journal=EMBO J. |volume=13 |issue= 1 |pages= 110–7 |year= 1994 |doi=10.1002/j.1460-2075.1994.tb06240.x |pmid= 8306954 | pmc=394784 }}
  • {{cite journal |vauthors=Savoia A, Ianzano L, Lunardi C, etal |title=Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients |journal=Hum. Genet. |volume=97 |issue= 1 |pages= 45–8 |year= 1996 |pmid= 8557259 |doi=10.1007/BF00218831 |s2cid=24872224 }}
  • {{cite journal |vauthors=Watanabe R, Kinoshita T, Masaki R, etal |title=PIG-A and PIG-H, which participate in glycosylphosphatidylinositol anchor biosynthesis, form a protein complex in the endoplasmic reticulum |journal=J. Biol. Chem. |volume=271 |issue= 43 |pages= 26868–75 |year= 1996 |pmid= 8900170 |doi=10.1074/jbc.271.43.26868 |doi-access=free }}
  • {{cite journal |vauthors=Watanabe R, Inoue N, Westfall B, etal |title=The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1 |journal=EMBO J. |volume=17 |issue= 4 |pages= 877–85 |year= 1998 |pmid= 9463366 |doi= 10.1093/emboj/17.4.877 | pmc=1170437 }}
  • {{cite journal |vauthors=Nafa K, Bessler M, Castro-Malaspina H, etal |title=The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications |journal=Blood Cells Mol. Dis. |volume=24 |issue= 3 |pages= 370–84 |year= 1999 |pmid= 10087994 |doi= 10.1006/bcmd.1998.0203 }}
  • {{cite journal |vauthors=Watanabe R, Murakami Y, Marmor MD, etal |title=Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2 |journal=EMBO J. |volume=19 |issue= 16 |pages= 4402–11 |year= 2000 |pmid= 10944123 |doi= 10.1093/emboj/19.16.4402 | pmc=302040 }}
  • {{cite journal |vauthors=Yoon JH, Cho HI, Park SS, etal |title=Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria |journal=J. Clin. Pathol. |volume=55 |issue= 6 |pages= 410–3 |year= 2002 |pmid= 12037021 |doi= 10.1136/jcp.55.6.410| pmc=1769670 }}
  • {{cite journal |vauthors=Nagakura S, Ishihara S, Dunn DE, etal |title=Decreased susceptibility of leukemic cells with PIG-A mutation to natural killer cells in vitro |journal=Blood |volume=100 |issue= 3 |pages= 1031–7 |year= 2002 |pmid= 12130519 |doi=10.1182/blood.V100.3.1031 |doi-access=free }}
  • {{cite journal |vauthors=Kai T, Shichishima T, Noji H, etal |title=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 |journal=Blood |volume=100 |issue= 10 |pages= 3812–8 |year= 2003 |pmid= 12411324 |doi= 10.1182/blood.V100.10.3812 |doi-access= free }}
  • {{cite journal |vauthors=Mortazavi Y, Merk B, McIntosh J, etal |title=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 |journal=Blood |volume=101 |issue= 7 |pages= 2833–41 |year= 2003 |pmid= 12424196 |doi= 10.1182/blood-2002-07-2095 |doi-access= free }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, etal |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 }}

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{{Glycosyltransferases}}

{{Phospholipid metabolism}}

{{gene-X-stub}}