Sequence of GNPTA_HUMAN

UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase

Q3T906

1256

143622

804875

Tiede S.,Storch S.,Luebke T.,Henrissat B.,Bargal R.,Raas-Rothschild A.,Braulke T.

Mucolipidosis II is caused by mutations in GNPTA encoding the alpha/beta GlcNAc-1-phosphotransferase.

Nat. Med.

11

1109-1112

2005

804876

Kudo M.,Bao M.,D'Souza A.,Ying F.,Pan H.,Roe B.A.,Canfield W.M.

The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase are encoded by a single cDNA.

J. Biol. Chem.

280

36141-36149

2005

804878

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

Genome Res.

14

2121-2127

2004

804879

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

804880

Nagase T.,Ishikawa K.,Kikuno R.,Hirosawa M.,Nomura N.,Ohara O.

Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

DNA Res.

6

337-345

1999

804881

Nakajima D.,Okazaki N.,Yamakawa H.,Kikuno R.,Ohara O.,Nagase T.

Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones.

DNA Res.

9

99-106

2002

804882

Sperisen P.,Schmid C.D.,Bucher P.,Zilian O.

Stealth proteins: in silico identification of a novel protein family rendering bacterial pathogens invisible to host immune defense.

PLoS Comput. Biol.

1

492-499

2005

804883

Chen R.,Jiang X.,Sun D.,Han G.,Wang F.,Ye M.,Wang L.,Zou H.

Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.

J. Proteome Res.

8

651-661

2009

804884

Qian Y.,Lee I.,Lee W.S.,Qian M.,Kudo M.,Canfield W.M.,Lobel P.,Kornfeld S.

Functions of the alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase.

J. Biol. Chem.

285

3360-3370

2010

804885

Marschner K.,Kollmann K.,Schweizer M.,Braulke T.,Pohl S.

A key enzyme in the biogenesis of lysosomes is a protease that regulates cholesterol metabolism.

Science

333

87-90

2011

804886

Yang Y.,Wu J.,Liu H.,Chen X.,Wang Y.,Zhao M.,He X.

Two homozygous nonsense mutations of GNPTAB gene in two Chinese families with mucolipidosis II alpha/beta using targeted next-generation sequencing.

Genomics

102

169-173

2013

804887

van Meel E.,Qian Y.,Kornfeld S.A.

Mislocalization of phosphotransferase as a cause of mucolipidosis III alphabeta.

Proc. Natl. Acad. Sci. U.S.A.

111

3532-3537

2014

804888

Qian Y.,van Meel E.,Flanagan-Steet H.,Yox A.,Steet R.,Kornfeld S.

Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.

J. Biol. Chem.

290

3045-3056

2015

804889

Tiede S.,Muschol N.,Reutter G.,Cantz M.,Ullrich K.,Braulke T.

Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype.

Am. J. Med. Genet. A

137

235-240

2005

804890

Kudo M.,Brem M.S.,Canfield W.M.

Mucolipidosis II (I-cell disease) and mucolipidosis IIIA (classical pseudo-Hurler polydystrophy) are caused by mutations in the GlcNAc-phosphotransferase alpha/beta-subunits precursor gene.

Am. J. Hum. Genet.

78

451-463

2006

804891

Tiede S.,Cantz M.,Spranger J.,Braulke T.

Missense mutation in the N-acetylglucosamine-1-phosphotransferase gene (GNPTA) in a patient with mucolipidosis II induces changes in the size and cellular distribution of GNPTG.

Hum. Mutat.

27

830-831

2006

804892

Bargal R.,Zeigler M.,Abu-Libdeh B.,Zuri V.,Mandel H.,Ben Neriah Z.,Stewart F.,Elcioglu N.,Hindi T.,Le Merrer M.,Bach G.,Raas-Rothschild A.

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

Mol. Genet. Metab.

88

359-363

2006

804893

Lam C.W.,Yan M.S.,Li C.K.,Lau K.C.,Tong S.F.,Tang H.Y.

DNA-based diagnosis of mucolipidosis type IIIA and mucopolysacchariodisis type VI in a Chinese family: a chance of 1 in 7.6 trillion.

Clin. Chim. Acta

376

250-252

2007

804894

Zarghooni M.,Dittakavi S.S.

Molecular analysis of cell lines from patients with mucolipidosis II and mucolipidosis III.

Am. J. Med. Genet. A

149A

2753-2761

2009

804895

Tappino B.,Chuzhanova N.A.,Regis S.,Dardis A.,Corsolini F.,Stroppiano M.,Tonoli E.,Beccari T.,Rosano C.,Mucha J.,Blanco M.,Szlago M.,Di Rocco M.,Cooper D.N.,Filocamo M.

Molecular characterization of 22 novel UDP-N-acetylglucosamine-1-phosphate transferase alpha- and beta-subunit (GNPTAB) gene mutations causing mucolipidosis types IIalpha/beta and IIIalpha/beta in 46 patients.

Hum. Mutat.

30

0-0

2009

804896

Otomo T.,Muramatsu T.,Yorifuji T.,Okuyama T.,Nakabayashi H.,Fukao T.,Ohura T.,Yoshino M.,Tanaka A.,Okamoto N.,Inui K.,Ozono K.,Sakai N.

Mucolipidosis II and III alpha/beta: mutation analysis of 40 Japanese patients showed genotype-phenotype correlation.

J. Hum. Genet.

54

145-151

2009

804897

Cathey S.S.,Leroy J.G.,Wood T.,Eaves K.,Simensen R.J.,Kudo M.,Stevenson R.E.,Friez M.J.

Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.

J. Med. Genet.

47

38-48

2010

804898

Kang C.,Riazuddin S.,Mundorff J.,Krasnewich D.,Friedman P.,Mullikin J.C.,Drayna D.

Mutations in the lysosomal enzyme-targeting pathway and persistent stuttering.

N. Engl. J. Med.

362

677-685

2010

804899

Coutinho M.F.,Santos L.S.,Girisha K.M.,Satyamoorthy K.,Lacerda L.,Prata M.J.,Alves S.

Mucolipidosis type II alpha/beta with a homozygous missense mutation in the GNPTAB gene.

Am. J. Med. Genet. A

158A

1225-1228

2012

804900

Leroy J.G.,Sillence D.,Wood T.,Barnes J.,Lebel R.R.,Friez M.J.,Stevenson R.E.,Steet R.,Cathey S.S.

A novel intermediate mucolipidosis II/IIIalphabeta caused by GNPTAB mutation in the cytosolic N-terminal domain.

Eur. J. Hum. Genet.

22

594-601

2014

804901

Cury G.K.,Matte U.,Artigalas O.,Alegra T.,Velho R.V.,Sperb F.,Burin M.G.,Ribeiro E.M.,Lourenco C.M.,Kim C.A.,Valadares E.R.,Galera M.F.,Acosta A.X.,Schwartz I.V.

Mucolipidosis II and III alpha/beta in Brazil: analysis of the GNPTAB gene.

Gene

524

59-64

2013

804902

De Pace R.,Coutinho M.F.,Koch-Nolte F.,Haag F.,Prata M.J.,Alves S.,Braulke T.,Pohl S.

Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB).

Hum. Mutat.

35

368-376

2014

804903

Qian Y.,Flanagan-Steet H.,van Meel E.,Steet R.,Kornfeld S.A.

The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module.

Proc. Natl. Acad. Sci. U.S.A.

110

10246-10251

2013

804904

Fernandez-Marmiesse A.,Morey M.,Pineda M.,Eiris J.,Couce M.L.,Castro-Gago M.,Fraga J.M.,Lacerda L.,Gouveia S.,Perez-Poyato M.S.,Armstrong J.,Castineiras D.,Cocho J.A.

Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.

Orphanet J. Rare Dis.

9

59-59

2014

804905

Velho R.V.,De Pace R.,Kluender S.,Sperb-Ludwig F.,Lourenco C.M.,Schwartz I.V.,Braulke T.,Pohl S.

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site.

Hum. Mol. Genet.

24

3497-3505

2015

804906

Cobos P.N.,Steglich C.,Santer R.,Lukacs Z.,Gal A.

Dried blood spots allow targeted screening to diagnose mucopolysaccharidosis and mucolipidosis.

JIMD Rep.

15

123-132

2015

804907

Lek M.,Karczewski K.J.,Minikel E.V.,Samocha K.E.,Banks E.,Fennell T.,O'Donnell-Luria A.H.,Ware J.S.,Hill A.J.,Cummings B.B.,Tukiainen T.,Birnbaum D.P.,Kosmicki J.A.,Duncan L.E.,Estrada K.,Zhao F.,Zou J.,Pierce-Hoffman E.,Berghout J.,Cooper D.N.,Deflaux N.,DePristo M.,Do R.,Flannick J.,Fromer M.,Gauthier L.,Goldstein J.,Gupta N.,Howrigan D.,Kiezun A.,Kurki M.I.,Moonshine A.L.,Natarajan P.,Orozco L.,Peloso G.M.,Poplin R.,Rivas M.A.,Ruano-Rubio V.,Rose S.A.,Ruderfer D.M.,Shakir K.,Stenson P.D.,Stevens C.,Thomas B.P.,Tiao G.,Tusie-Luna M.T.,Weisburd B.,Won H.H.,Yu D.,Altshuler D.M.,Ardissino D.,Boehnke M.,Danesh J.,Donnelly S.,Elosua R.,Florez J.C.,Gabriel S.B.,Getz G.,Glatt S.J.,Hultman C.M.,Kathiresan S.,Laakso M.,McCarroll S.,McCarthy M.I.,McGovern D.,McPherson R.,Neale B.M.,Palotie A.,Purcell S.M.,Saleheen D.,Scharf J.M.,Sklar P.,Sullivan P.F.,Tuomilehto J.,Tsuang M.T.,Watkins H.C.,Wilson J.G.,Daly M.J.,MacArthur D.G.

Analysis of protein-coding genetic variation in 60,706 humans.

Nature

536

285-291

2016

804908

Ludwig N.F.,Velho R.V.,Sperb-Ludwig F.,Acosta A.X.,Ribeiro E.M.,Kim C.A.,Gandelman Horovitz D.D.,Boy R.,Rodovalho-Doriqui M.J.,Lourenco C.M.,Santos E.S.,Braulke T.,Pohl S.,Schwartz I.V.D.

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms.

Int. J. Biochem. Cell Biol.

92

90-94

2017