Sequence of PIGA_HUMAN

phosphatidylinositol N-acetylglucosaminyltransferase

P37287

484

54127

458916

Miyata T.,Takeda J.,Iida Y.,Yamada N.,Inoue N.,Takahashi M.,Maeda K.,Kitani T.,Kinoshita T.

The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis.

Science

259

1318-1320

1993

458917

Bessler M.,Hillmen P.,Longo L.,Luzzatto L.,Mason P.J.

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

751-757

1994

458918

Iida Y.,Takeda J.,Miyata T.,Inoue N.,Nishimura J.,Kitani T.,Maeda K.,Kinoshita T.

Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria.

Blood

83

3126-3131

1994

458919

Yu J.,Nagarajan S.,Ueda E.,Knez J.J.,Petersen R.B.,Medof M.E.

Characterization of alternatively spliced PIG-A transcripts in normal and paroxysmal nocturnal hemoglobinuria cells.

Braz. J. Med. Biol. Res.

27

195-201

1994

458920

Ota T.,Suzuki Y.,Nishikawa T.,Otsuki T.,Sugiyama T.,Irie R.,Wakamatsu A.,Hayashi K.,Sato H.,Nagai K.,Kimura K.,Makita H.,Sekine M.,Obayashi M.,Nishi T.,Shibahara T.,Tanaka T.,Ishii S.,Yamamoto J.,Saito K.,Kawai Y.,Isono Y.,Nakamura Y.,Nagahari K.,Murakami K.,Yasuda T.,Iwayanagi T.,Wagatsuma M.,Shiratori A.,Sudo H.,Hosoiri T.,Kaku Y.,Kodaira H.,Kondo H.,Sugawara M.,Takahashi M.,Kanda K.,Yokoi T.,Furuya T.,Kikkawa E.,Omura Y.,Abe K.,Kamihara K.,Katsuta N.,Sato K.,Tanikawa M.,Yamazaki M.,Ninomiya K.,Ishibashi T.,Yamashita H.,Murakawa K.,Fujimori K.,Tanai H.,Kimata M.,Watanabe M.,Hiraoka S.,Chiba Y.,Ishida S.,Ono Y.,Takiguchi S.,Watanabe S.,Yosida M.,Hotuta T.,Kusano J.,Kanehori K.,Takahashi-Fujii A.,Hara H.,Tanase T.-O.,Nomura Y.,Togiya S.,Komai F.,Hara R.,Takeuchi K.,Arita M.,Imose N.,Musashino K.,Yuuki H.,Oshima A.,Sasaki N.,Aotsuka S.,Yoshikawa Y.,Matsunawa H.,Ichihara T.,Shiohata N.,Sano S.,Moriya S.,Momiyama H.,Satoh N.,Takami S.,Terashima Y.,Suzuki O.,Nakagawa S.,Senoh A.,Mizoguchi H.,Goto Y.,Shimizu F.,Wakebe H.,Hishigaki H.,Watanabe T.,Sugiyama A.,Takemoto M.,Kawakami B.,Yamazaki M.,Watanabe K.,Kumagai A.,Itakura S.,Fukuzumi Y.,Fujimori Y.,Komiyama M.,Tashiro H.,Tanigami A.,Fujiwara T.,Ono T.,Yamada K.,Fujii Y.,Ozaki K.,Hirao M.,Ohmori Y.,Kawabata A.,Hikiji T.,Kobatake N.,Inagaki H.,Ikema Y.,Okamoto S.,Okitani R.,Kawakami T.,Noguchi S.,Itoh T.,Shigeta K.,Senba T.,Matsumura K.,Nakajima Y.,Mizuno T.,Morinaga M.,Sasaki M.,Togashi T.,Oyama M.,Hata H.,Watanabe M.,Komatsu T.,Mizushima-Sugano J.,Satoh T.,Shirai Y.,Takahashi Y.,Nakagawa K.,Okumura K.,Nagase T.,Nomura N.,Kikuchi H.,Masuho Y.,Yamashita R.,Nakai K.,Yada T.,Nakamura Y.,Ohara O.,Isogai T.,Sugano S.

Complete sequencing and characterization of 21,243 full-length human cDNAs.

Nat. Genet.

36

40-45

2004

458921

Ross M.T.,Grafham D.V.,Coffey A.J.,Scherer S.,McLay K.,Muzny D.,Platzer M.,Howell G.R.,Burrows C.,Bird C.P.,Frankish A.,Lovell F.L.,Howe K.L.,Ashurst J.L.,Fulton R.S.,Sudbrak R.,Wen G.,Jones M.C.,Hurles M.E.,Andrews T.D.,Scott C.E.,Searle S.,Ramser J.,Whittaker A.,Deadman R.,Carter N.P.,Hunt S.E.,Chen R.,Cree A.,Gunaratne P.,Havlak P.,Hodgson A.,Metzker M.L.,Richards S.,Scott G.,Steffen D.,Sodergren E.,Wheeler D.A.,Worley K.C.,Ainscough R.,Ambrose K.D.,Ansari-Lari M.A.,Aradhya S.,Ashwell R.I.,Babbage A.K.,Bagguley C.L.,Ballabio A.,Banerjee R.,Barker G.E.,Barlow K.F.,Barrett I.P.,Bates K.N.,Beare D.M.,Beasley H.,Beasley O.,Beck A.,Bethel G.,Blechschmidt K.,Brady N.,Bray-Allen S.,Bridgeman A.M.,Brown A.J.,Brown M.J.,Bonnin D.,Bruford E.A.,Buhay C.,Burch P.,Burford D.,Burgess J.,Burrill W.,Burton J.,Bye J.M.,Carder C.,Carrel L.,Chako J.,Chapman J.C.,Chavez D.,Chen E.,Chen G.,Chen Y.,Chen Z.,Chinault C.,Ciccodicola A.,Clark S.Y.,Clarke G.,Clee C.M.,Clegg S.,Clerc-Blankenburg K.,Clifford K.,Cobley V.,Cole C.G.,Conquer J.S.,Corby N.,Connor R.E.,David R.,Davies J.,Davis C.,Davis J.,Delgado O.,Deshazo D.,Dhami P.,Ding Y.,Dinh H.,Dodsworth S.,Draper H.,Dugan-Rocha S.,Dunham A.,Dunn M.,Durbin K.J.,Dutta I.,Eades T.,Ellwood M.,Emery-Cohen A.,Errington H.,Evans K.L.,Faulkner L.,Francis F.,Frankland J.,Fraser A.E.,Galgoczy P.,Gilbert J.,Gill R.,Gloeckner G.,Gregory S.G.,Gribble S.,Griffiths C.,Grocock R.,Gu Y.,Gwilliam R.,Hamilton C.,Hart E.A.,Hawes A.,Heath P.D.,Heitmann K.,Hennig S.,Hernandez J.,Hinzmann B.,Ho S.,Hoffs M.,Howden P.J.,Huckle E.J.,Hume J.,Hunt P.J.,Hunt A.R.,Isherwood J.,Jacob L.,Johnson D.,Jones S.,de Jong P.J.,Joseph S.S.,Keenan S.,Kelly S.,Kershaw J.K.,Khan Z.,Kioschis P.,Klages S.,Knights A.J.,Kosiura A.,Kovar-Smith C.,Laird G.K.,Langford C.,Lawlor S.,Leversha M.,Lewis L.,Liu W.,Lloyd C.,Lloyd D.M.,Loulseged H.,Loveland J.E.,Lovell J.D.,Lozado R.,Lu J.,Lyne R.,Ma J.,Maheshwari M.,Matthews L.H.,McDowall J.,McLaren S.,McMurray A.,Meidl P.,Meitinger T.,Milne S.,Miner G.,Mistry S.L.,Morgan M.,Morris S.,Mueller I.,Mullikin J.C.,Nguyen N.,Nordsiek G.,Nyakatura G.,O'dell C.N.,Okwuonu G.,Palmer S.,Pandian R.,Parker D.,Parrish J.,Pasternak S.,Patel D.,Pearce A.V.,Pearson D.M.,Pelan S.E.,Perez L.,Porter K.M.,Ramsey Y.,Reichwald K.,Rhodes S.,Ridler K.A.,Schlessinger D.,Schueler M.G.,Sehra H.K.,Shaw-Smith C.,Shen H.,Sheridan E.M.,Shownkeen R.,Skuce C.D.,Smith M.L.,Sotheran E.C.,Steingruber H.E.,Steward C.A.,Storey R.,Swann R.M.,Swarbreck D.,Tabor P.E.,Taudien S.,Taylor T.,Teague B.,Thomas K.,Thorpe A.,Timms K.,Tracey A.,Trevanion S.,Tromans A.C.,d'Urso M.,Verduzco D.,Villasana D.,Waldron L.,Wall M.,Wang Q.,Warren J.,Warry G.L.,Wei X.,West A.,Whitehead S.L.,Whiteley M.N.,Wilkinson J.E.,Willey D.L.,Williams G.,Williams L.,Williamson A.,Williamson H.,Wilming L.,Woodmansey R.L.,Wray P.W.,Yen J.,Zhang J.,Zhou J.,Zoghbi H.,Zorilla S.,Buck D.,Reinhardt R.,Poustka A.,Rosenthal A.,Lehrach H.,Meindl A.,Minx P.J.,Hillier L.W.,Willard H.F.,Wilson R.K.,Waterston R.H.,Rice C.M.,Vaudin M.,Coulson A.,Nelson D.L.,Weinstock G.,Sulston J.E.,Durbin R.M.,Hubbard T.,Gibbs R.A.,Beck S.,Rogers J.,Bentley D.R.

The DNA sequence of the human X chromosome.

Nature

434

325-337

2005

458922

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

14

2121-2127

2004

458923

Takeda J.,Miyata T.,Kawagoe K.,Iida Y.,Endo Y.,Fujita T.,Takahashi M.,Kitani T.,Kinoshita T.

Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.

Cell

73

703-711

1993

458924

Watanabe R.,Inoue N.,Westfall B.,Taron C.H.,Orlean P.,Takeda J.,Kinoshita T.

The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.

EMBO J.

17

877-885

1998

458925

Murakami Y.,Siripanyaphinyo U.,Hong Y.,Tashima Y.,Maeda Y.,Kinoshita T.

The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.

Mol. Biol. Cell

16

5236-5246

2005

458926

Daub H.,Olsen J.V.,Bairlein M.,Gnad F.,Oppermann F.S.,Korner R.,Greff Z.,Keri G.,Stemmann O.,Mann M.

Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

Mol. Cell

31

438-448

2008

458927

Johnston J.J.,Gropman A.L.,Sapp J.C.,Teer J.K.,Martin J.M.,Liu C.F.,Yuan X.,Ye Z.,Cheng L.,Brodsky R.A.,Biesecker L.G.

The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.

Am. J. Hum. Genet.

90

295-300

2012

458928

Zhou H.,Di Palma S.,Preisinger C.,Peng M.,Polat A.N.,Heck A.J.,Mohammed S.

Toward a comprehensive characterization of a human cancer cell phosphoproteome.

J. Proteome Res.

12

260-271

2013

458929

Bessler M.,Mason P.J.,Hilmen P.,Miyata T.,Yamada N.,Takeda J.,Luzzato L.,Kinoshita T.

Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.

EMBO J.

13

110-117

1994

458930

Ware R.E.,Rosse W.F.,Howard T.A.

Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.

Blood

83

2418-2422

1994

458931

Nafa K.,Bessler M.,Castro-Malaspina H.,Jhanwar S.,Luzzatto L.

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

370-384

1998

458932

Yoon J.H.,Cho H.I.,Park S.S.,Chang Y.H.,Kim B.K.

Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria.

J. Clin. Pathol.

55

410-413

2002

458933

Swoboda K.J.,Margraf R.L.,Carey J.C.,Zhou H.,Newcomb T.M.,Coonrod E.,Durtschi J.,Mallempati K.,Kumanovics A.,Katz B.E.,Voelkerding K.V.,Opitz J.M.

A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

Am. J. Med. Genet. A

164A

17-28

2014

458934

van der Crabben S.N.,Harakalova M.,Brilstra E.H.,van Berkestijn F.M.,Hofstede F.C.,van Vught A.J.,Cuppen E.,Kloosterman W.,Ploos van Amstel H.K.,van Haaften G.,van Haelst M.M.

Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.

Am. J. Med. Genet. A

164A

29-35

2014

458935

Kato M.,Saitsu H.,Murakami Y.,Kikuchi K.,Watanabe S.,Iai M.,Miya K.,Matsuura R.,Takayama R.,Ohba C.,Nakashima M.,Tsurusaki Y.,Miyake N.,Hamano S.,Osaka H.,Hayasaka K.,Kinoshita T.,Matsumoto N.

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

Neurology

82

1587-1596

2014

458936

Trump N.,McTague A.,Brittain H.,Papandreou A.,Meyer E.,Ngoh A.,Palmer R.,Morrogh D.,Boustred C.,Hurst J.A.,Jenkins L.,Kurian M.A.,Scott R.H.

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

J. Med. Genet.

53

310-317

2016

458937

Parrini E.,Marini C.,Mei D.,Galuppi A.,Cellini E.,Pucatti D.,Chiti L.,Rutigliano D.,Bianchini C.,Virdo S.,De Vita D.,Bigoni S.,Barba C.,Mari F.,Montomoli M.,Pisano T.,Rosati A.,Guerrini R.

Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

Hum. Mutat.

38

216-225

2017