Sequence of PMGT1_HUMAN

Q8WZA1

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Yoshida A.,Kobayashi K.,Manya H.,Taniguchi K.,Kano H.,Mizuno M.,Inazu T.,Mitsuhashi H.,Takahashi S.,Takeuchi M.,Herrmann R.,Straub V.,Talim B.,Voit T.,Topaloglu H.,Toda T.,Endo T.

Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1.

Dev. Cell

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Taniguchi K.,Kobayashi K.,Saito K.,Yamanouchi H.,Ohnuma A.,Hayashi Y.K.,Manya H.,Jin D.K.,Lee M.,Parano E.,Falsaperla R.,Pavone P.,Coster R.V.,Talim B.,Steinbrecher A.,Straub V.,Nishino I.,Topaloglu H.,Voit T.,Endo T.,Toda T.

Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease.

Hum. Mol. Genet.

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2003

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Clark H.F.,Gurney A.L.,Abaya E.,Baker K.,Baldwin D.T.,Brush J.,Chen J.,Chow B.,Chui C.,Crowley C.,Currell B.,Deuel B.,Dowd P.,Eaton D.,Foster J.S.,Grimaldi C.,Gu Q.,Hass P.E.,Heldens S.,Huang A.,Kim H.S.,Klimowski L.,Jin Y.,Johnson S.,Lee J.,Lewis L.,Liao D.,Mark M.R.,Robbie E.,Sanchez C.,Schoenfeld J.,Seshagiri S.,Simmons L.,Singh J.,Smith V.,Stinson J.,Vagts A.,Vandlen R.L.,Watanabe C.,Wieand D.,Woods K.,Xie M.-H.,Yansura D.G.,Yi S.,Yu G.,Yuan J.,Zhang M.,Zhang Z.,Goddard A.D.,Wood W.I.,Godowski P.J.,Gray A.M.

The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

Genome Res.

13

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2003

1101235

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

1101236

Gregory S.G.,Barlow K.F.,McLay K.E.,Kaul R.,Swarbreck D.,Dunham A.,Scott C.E.,Howe K.L.,Woodfine K.,Spencer C.C.A.,Jones M.C.,Gillson C.,Searle S.,Zhou Y.,Kokocinski F.,McDonald L.,Evans R.,Phillips K.,Atkinson A.,Cooper R.,Jones C.,Hall R.E.,Andrews T.D.,Lloyd C.,Ainscough R.,Almeida J.P.,Ambrose K.D.,Anderson F.,Andrew R.W.,Ashwell R.I.S.,Aubin K.,Babbage A.K.,Bagguley C.L.,Bailey J.,Beasley H.,Bethel G.,Bird C.P.,Bray-Allen S.,Brown J.Y.,Brown A.J.,Buckley D.,Burton J.,Bye J.,Carder C.,Chapman J.C.,Clark S.Y.,Clarke G.,Clee C.,Cobley V.,Collier R.E.,Corby N.,Coville G.J.,Davies J.,Deadman R.,Dunn M.,Earthrowl M.,Ellington A.G.,Errington H.,Frankish A.,Frankland J.,French L.,Garner P.,Garnett J.,Gay L.,Ghori M.R.J.,Gibson R.,Gilby L.M.,Gillett W.,Glithero R.J.,Grafham D.V.,Griffiths C.,Griffiths-Jones S.,Grocock R.,Hammond S.,Harrison E.S.I.,Hart E.,Haugen E.,Heath P.D.,Holmes S.,Holt K.,Howden P.J.,Hunt A.R.,Hunt S.E.,Hunter G.,Isherwood J.,James R.,Johnson C.,Johnson D.,Joy A.,Kay M.,Kershaw J.K.,Kibukawa M.,Kimberley A.M.,King A.,Knights A.J.,Lad H.,Laird G.,Lawlor S.,Leongamornlert D.A.,Lloyd D.M.,Loveland J.,Lovell J.,Lush M.J.,Lyne R.,Martin S.,Mashreghi-Mohammadi M.,Matthews L.,Matthews N.S.W.,McLaren S.,Milne S.,Mistry S.,Moore M.J.F.,Nickerson T.,O'Dell C.N.,Oliver K.,Palmeiri A.,Palmer S.A.,Parker A.,Patel D.,Pearce A.V.,Peck A.I.,Pelan S.,Phelps K.,Phillimore B.J.,Plumb R.,Rajan J.,Raymond C.,Rouse G.,Saenphimmachak C.,Sehra H.K.,Sheridan E.,Shownkeen R.,Sims S.,Skuce C.D.,Smith M.,Steward C.,Subramanian S.,Sycamore N.,Tracey A.,Tromans A.,Van Helmond Z.,Wall M.,Wallis J.M.,White S.,Whitehead S.L.,Wilkinson J.E.,Willey D.L.,Williams H.,Wilming L.,Wray P.W.,Wu Z.,Coulson A.,Vaudin M.,Sulston J.E.,Durbin R.M.,Hubbard T.,Wooster R.,Dunham I.,Carter N.P.,McVean G.,Ross M.T.,Harrow J.,Olson M.V.,Beck S.,Rogers J.,Bentley D.R.

The DNA sequence and biological annotation of human chromosome 1.

Nature

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315-321

2006

1101238

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

Genome Res.

14

2121-2127

2004

1101239

Zhang W.,Betel D.,Schachter H.

Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.

Biochem. J.

361

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2002

1101240

Xiong H.,Kobayashi K.,Tachikawa M.,Manya H.,Takeda S.,Chiyonobu T.,Fujikake N.,Wang F.,Nishimoto A.,Morris G.E.,Nagai Y.,Kanagawa M.,Endo T.,Toda T.

Molecular interaction between fukutin and POMGnT1 in the glycosylation pathway of alpha-dystroglycan.

Biochem. Biophys. Res. Commun.

350

935-941

2006

1101241

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.

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1101242

Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

J. Proteomics

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2014

1101243

Larsen I.S.B.,Narimatsu Y.,Joshi H.J.,Yang Z.,Harrison O.J.,Brasch J.,Shapiro L.,Honig B.,Vakhrushev S.Y.,Clausen H.,Halim A.

Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2.

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2017

1101244

Manya H.,Sakai K.,Kobayashi K.,Taniguchi K.,Kawakita M.,Toda T.,Endo T.

Loss-of-function of an N-acetylglucosaminyltransferase, POMGnT1, in muscle-eye-brain disease.

Biochem. Biophys. Res. Commun.

306

93-97

2003

1101245

Akasaka-Manya K.,Manya H.,Kobayashi K.,Toda T.,Endo T.

Structure-function analysis of human protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase 1, POMGnT1.

Biochem. Biophys. Res. Commun.

320

39-44

2004

1101246

Kuwabara N.,Manya H.,Yamada T.,Tateno H.,Kanagawa M.,Kobayashi K.,Akasaka-Manya K.,Hirose Y.,Mizuno M.,Ikeguchi M.,Toda T.,Hirabayashi J.,Senda T.,Endo T.,Kato R.

Carbohydrate-binding domain of the POMGnT1 stem region modulates O-mannosylation sites of alpha-dystroglycan.

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

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2016

1101247

Vervoort V.S.,Holden K.R.,Ukadike K.C.,Collins J.S.,Saul R.A.,Srivastava A.K.

POMGnT1 gene alterations in a family with neurological abnormalities.

Ann. Neurol.

56

143-148

2004

1101248

Diesen C.,Saarinen A.,Pihko H.,Rosenlew C.,Cormand B.,Dobyns W.B.,Dieguez J.,Valanne L.,Joensuu T.,Lehesjoki A.-E.

POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

J. Med. Genet.

41

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2004

1101249

Biancheri R.,Bertini E.,Falace A.,Pedemonte M.,Rossi A.,D'Amico A.,Scapolan S.,Bergamino L.,Petrini S.,Cassandrini D.,Broda P.,Manfredi M.,Zara F.,Santorelli F.M.,Minetti C.,Bruno C.

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

Arch. Neurol.

63

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2006

1101250

Clement E.,Mercuri E.,Godfrey C.,Smith J.,Robb S.,Kinali M.,Straub V.,Bushby K.,Manzur A.,Talim B.,Cowan F.,Quinlivan R.,Klein A.,Longman C.,McWilliam R.,Topaloglu H.,Mein R.,Abbs S.,North K.,Barkovich A.J.,Rutherford M.,Muntoni F.

Brain involvement in muscular dystrophies with defective dystroglycan glycosylation.

Ann. Neurol.

64

573-582

2008

1101251

Clement E.M.,Godfrey C.,Tan J.,Brockington M.,Torelli S.,Feng L.,Brown S.C.,Jimenez-Mallebrera C.,Sewry C.A.,Longman C.,Mein R.,Abbs S.,Vajsar J.,Schachter H.,Muntoni F.

Mild POMGnT1 mutations underlie a novel limb-girdle muscular dystrophy variant.

Arch. Neurol.

65

137-141

2008

1101252

Mercuri E.,Messina S.,Bruno C.,Mora M.,Pegoraro E.,Comi G.P.,D'Amico A.,Aiello C.,Biancheri R.,Berardinelli A.,Boffi P.,Cassandrini D.,Laverda A.,Moggio M.,Morandi L.,Moroni I.,Pane M.,Pezzani R.,Pichiecchio A.,Pini A.,Minetti C.,Mongini T.,Mottarelli E.,Ricci E.,Ruggieri A.,Saredi S.,Scuderi C.,Tessa A.,Toscano A.,Tortorella G.,Trevisan C.P.,Uggetti C.,Vasco G.,Santorelli F.M.,Bertini E.

Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.

Neurology

72

1802-1809

2009

1101253

Xu M.,Yamada T.,Sun Z.,Eblimit A.,Lopez I.,Wang F.,Manya H.,Xu S.,Zhao L.,Li Y.,Kimchi A.,Sharon D.,Sui R.,Endo T.,Koenekoop R.K.,Chen R.

Mutations in POMGNT1 cause non-syndromic retinitis pigmentosa.

Hum. Mol. Genet.

25

1479-1488

2016

1101254

Wang N.H.,Chen S.J.,Yang C.F.,Chen H.W.,Chuang H.P.,Lu Y.H.,Chen C.H.,Wu J.Y.,Niu D.M.,Chen Y.T.

Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.

Invest. Ophthalmol. Vis. Sci.

57

3601-3609

2016