PIGA: Difference between revisions
Jump to navigation
Jump to search
m Bot: HTTP→HTTPS |
imported>Citation bot m Alter: title. Removed parameters. You can use this bot yourself. Report bugs here. | Anas1712 |
||
| Line 11: | Line 11: | ||
==Interactions== | ==Interactions== | ||
PIGA has been shown for [[Protein-protein interaction|interact]] with [[PIGQ]].<ref name=pmid9463366>{{cite journal |last=Watanabe |first=R |authorlink= |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 | PIGA has been shown for [[Protein-protein interaction|interact]] with [[PIGQ]].<ref name=pmid9463366>{{cite journal |last=Watanabe |first=R |authorlink= |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 | bibcode = | oclc =| id = | url = | language = | format = | accessdate = | laysummary = | laysource = | laydate = | quote = |pmc=1170437 }}</ref> | ||
==References== | ==References== | ||
| Line 20: | Line 20: | ||
{{PBB_Further_reading | {{PBB_Further_reading | ||
| citations = | | citations = | ||
*{{cite journal |vauthors=Brodsky RA, Hu R |title=PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis | *{{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 }} | ||
*{{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 | *{{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 | *{{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 |doi= }} | ||
*{{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 | *{{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 | *{{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 |pmid= 8167330 |doi= }} | ||
*{{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 | *{{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 |pmid= 8193350 |doi= }} | ||
*{{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 | *{{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 |pmid= 8306954 |doi= | 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 | *{{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 }} | ||
*{{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 | *{{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 }} | ||
*{{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 | *{{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 | *{{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 | *{{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 | *{{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 | *{{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 }} | ||
*{{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 | *{{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 }} | ||
*{{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 | *{{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 }} | ||
*{{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 | *{{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 }} | ||
*{{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs | *{{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 }} | ||
*{{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) | *{{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 }} | ||
}} | }} | ||
{{refend}} | {{refend}} | ||
Latest revision as of 23:52, 5 September 2018
| VALUE_ERROR (nil) | |||||||
|---|---|---|---|---|---|---|---|
| Identifiers | |||||||
| Aliases | |||||||
| External IDs | GeneCards: [1] | ||||||
| Orthologs | |||||||
| Species | Human | Mouse | |||||
| Entrez |
|
| |||||
| Ensembl |
|
| |||||
| UniProt |
|
| |||||
| RefSeq (mRNA) |
|
| |||||
| RefSeq (protein) |
|
| |||||
| Location (UCSC) | n/a | n/a | |||||
| PubMed search | n/a | n/a | |||||
| Wikidata | |||||||
| |||||||
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.[1][2]
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 mutations in this gene. Alternate splice variants have been characterized.[2]
Interactions
PIGA has been shown for interact with PIGQ.[3]
References
- ↑ Takeda J, Miyata T, Kawagoe K, Iida Y, Endo Y, Fujita T, Takahashi M, Kitani T, Kinoshita T (Jun 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. doi:10.1016/0092-8674(93)90250-T. PMID 8500164.
- ↑ 2.0 2.1 "Entrez Gene: PIGA phosphatidylinositol glycan anchor biosynthesis, class A (paroxysmal nocturnal hemoglobinuria)".
- ↑ Watanabe, R; Inoue N; Westfall B; Taron C H; Orlean P; Takeda J; Kinoshita T (Feb 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. ISSN 0261-4189. PMC 1170437. PMID 9463366.
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. Bibcode:1993Sci...259.1318M. doi:10.1126/science.7680492. 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. doi:10.1093/hmg/3.5.751. 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. PMC 394784. PMID 8306954.
- 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. doi:10.1007/BF00218831. 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. doi:10.1074/jbc.271.43.26868. 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. PMC 1170437. 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. PMC 302040. 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. doi:10.1136/jcp.55.6.410. PMC 1769670. 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. doi:10.1182/blood.V100.3.1031. 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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. 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. PMC 528928. PMID 15489334.
 | This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it. |