Sequence of HGNAT_HUMAN

heparan-alpha-glucosaminide N-acetyltransferase

Q68CP4

663

73293

553780

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.

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40-45

2004

553781

Nusbaum C.,Mikkelsen T.S.,Zody M.C.,Asakawa S.,Taudien S.,Garber M.,Kodira C.D.,Schueler M.G.,Shimizu A.,Whittaker C.A.,Chang J.L.,Cuomo C.A.,Dewar K.,FitzGerald M.G.,Yang X.,Allen N.R.,Anderson S.,Asakawa T.,Blechschmidt K.,Bloom T.,Borowsky M.L.,Butler J.,Cook A.,Corum B.,DeArellano K.,DeCaprio D.,Dooley K.T.,Dorris L. III,Engels R.,Gloeckner G.,Hafez N.,Hagopian D.S.,Hall J.L.,Ishikawa S.K.,Jaffe D.B.,Kamat A.,Kudoh J.,Lehmann R.,Lokitsang T.,Macdonald P.,Major J.E.,Matthews C.D.,Mauceli E.,Menzel U.,Mihalev A.H.,Minoshima S.,Murayama Y.,Naylor J.W.,Nicol R.,Nguyen C.,O'Leary S.B.,O'Neill K.,Parker S.C.J.,Polley A.,Raymond C.K.,Reichwald K.,Rodriguez J.,Sasaki T.,Schilhabel M.,Siddiqui R.,Smith C.L.,Sneddon T.P.,Talamas J.A.,Tenzin P.,Topham K.,Venkataraman V.,Wen G.,Yamazaki S.,Young S.K.,Zeng Q.,Zimmer A.R.,Rosenthal A.,Birren B.W.,Platzer M.,Shimizu N.,Lander E.S.

DNA sequence and analysis of human chromosome 8.

Nature

439

331-335

2006

553782

Bechtel S.,Rosenfelder H.,Duda A.,Schmidt C.P.,Ernst U.,Wellenreuther R.,Mehrle A.,Schuster C.,Bahr A.,Bloecker H.,Heubner D.,Hoerlein A.,Michel G.,Wedler H.,Koehrer K.,Ottenwaelder B.,Poustka A.,Wiemann S.,Schupp I.

The full-ORF clone resource of the German cDNA consortium.

BMC Genomics

8

399-399

2007

553783

Fan X.,Zhang H.,Zhang S.,Bagshaw R.D.,Tropak M.B.,Callahan J.W.,Mahuran D.J.

Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).

Am. J. Hum. Genet.

79

738-744

2006

553784

Schroeder B.,Wrocklage C.,Pan C.,Jaeger R.,Koesters B.,Schaefer H.,Elsaesser H.-P.,Mann M.,Hasilik A.

Integral and associated lysosomal membrane proteins.

Traffic

8

1676-1686

2007

553785

Dephoure N.,Zhou C.,Villen J.,Beausoleil S.A.,Bakalarski C.E.,Elledge S.J.,Gygi S.P.

A quantitative atlas of mitotic phosphorylation.

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

105

10762-10767

2008

553786

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

553787

Feldhammer M.,Durand S.,Pshezhetsky A.V.

Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C.

PLoS ONE

4

0-0

2009

553788

Durand S.,Feldhammer M.,Bonneil E.,Thibault P.,Pshezhetsky A.V.

Analysis of the biogenesis of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase provides insights into the mechanism underlying its complete deficiency in mucopolysaccharidosis IIIC.

J. Biol. Chem.

285

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2010

553789

Olsen J.V.,Vermeulen M.,Santamaria A.,Kumar C.,Miller M.L.,Jensen L.J.,Gnad F.,Cox J.,Jensen T.S.,Nigg E.A.,Brunak S.,Mann M.

Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

Sci. Signal.

3

0-0

2010

553790

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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260-271

2013

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Haer-Wigman L.,Newman H.,Leibu R.,Bax N.M.,Baris H.N.,Rizel L.,Banin E.,Massarweh A.,Roosing S.,Lefeber D.J.,Zonneveld-Vrieling M.N.,Isakov O.,Shomron N.,Sharon D.,Den Hollander A.I.,Hoyng C.B.,Cremers F.P.,Ben-Yosef T.

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

Hum. Mol. Genet.

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2015

553792

Ouesleti S.,Coutinho M.F.,Ribeiro I.,Miled A.,Mosbahi D.S.,Alves S.

Update of the spectrum of mucopolysaccharidoses type III in Tunisia: identification of three novel mutations and in silico structural analysis of the missense mutations.

World J. Pediatr.

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374-380

2017

553793

Hrebicek M.,Mrazova L.,Seyrantepe V.,Durand S.,Roslin N.M.,Noskova L.,Hartmannova H.,Ivanek R.,Cizkova A.,Poupetova H.,Sikora J.,Urinovska J.,Stranecky V.,Zeman J.,Lepage P.,Roquis D.,Verner A.,Ausseil J.,Beesley C.E.,Maire I.,Poorthuis B.J.H.M.,van de Kamp J.,van Diggelen O.P.,Wevers R.A.,Hudson T.J.,Fujiwara T.M.,Majewski J.,Morgan K.,Kmoch S.,Pshezhetsky A.V.

Mutations in TMEM76 cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

Am. J. Hum. Genet.

79

807-819

2006

553794

Fedele A.O.,Filocamo M.,Di Rocco M.,Sersale G.,Luebke T.,di Natale P.,Cosma M.P.,Ballabio A.

Mutational analysis of the HGSNAT gene in Italian patients with mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Mutation in brief #959. Online.

Hum. Mutat.

28

523-523

2007

553795

Ruijter G.J.G.,Valstar M.J.,van de Kamp J.M.,van der Helm R.M.,Durand S.,van Diggelen O.P.,Wevers R.A.,Poorthuis B.J.,Pshezhetsky A.V.,Wijburg F.A.

Clinical and genetic spectrum of Sanfilippo type C (MPS IIIC) disease in The Netherlands.

Mol. Genet. Metab.

93

104-111

2008

553796

Feldhammer M.,Durand S.,Mrazova L.,Boucher R.-M.,Laframboise R.,Steinfeld R.,Wraith J.E.,Michelakakis H.,van Diggelen O.P.,Hrebicek M.,Kmoch S.,Pshezhetsky A.V.

Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase (HGSNAT) gene.

Hum. Mutat.

30

918-925

2009

553797

Fedele A.O.,Hopwood J.J.

Functional analysis of the HGSNAT gene in patients with mucopolysaccharidosis IIIC (Sanfilippo C Syndrome).

Hum. Mutat.

31

0-0

2010

553798

Canals I.,Elalaoui S.C.,Pineda M.,Delgadillo V.,Szlago M.,Jaouad I.C.,Sefiani A.,Chabas A.,Coll M.J.,Grinberg D.,Vilageliu L.

Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles.

Clin. Genet.

80

367-374

2011