Sequence of HGNAT_HUMAN

EC Number
Recommended Name
Accession Code
Organism
No of amino acids
Molecular Weight [Da]
Source
heparan-alpha-glucosaminide N-acetyltransferase
Q68CP4
Homo sapiens
663
73293
Reaction
acetyl-CoA + heparan sulfate alpha-D-glucosaminide = CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide
Sequences with same EC No.
Sequence
show sequence in fasta format
  0 MTGARASAAE QRRAGRSGQA RAAERAAGMS GAGRALAALL LAASVLSAAL LAPGGSSGRD
 60 AQAAPPRDLD KKRHAELKMD QALLLIHNEL LWTNLTVYWK SECCYHCLFQ VLVNVPQSPK
120 AGKPSAAAAS VSTQHGSILQ LNDTLEEKEV CRLEYRFGEF GNYSLLVKNI HNGVSEIACD
180 LAVNEDPVDS NLPVSIAFLI GLAVIIVISF LRLLLSLDDF NNWISKAISS RETDRLINSE
240 LGSPSRTDPL DGDVQPATWR LSALPPRLRS VDTFRGIALI LMVFVNYGGG KYWYFKHASW
300 NGLTVADLVF PWFVFIMGSS IFLSMTSILQ RGCSKFRLLG KIAWRSFLLI CIGIIIVNPN
360 YCLGPLSWDK VRIPGVLQRL GVTYFVVAVL ELLFAKPVPE HCASERSCLS LRDITSSWPQ
420 WLLILVLEGL WLGLTFLLPV PGCPTGYLGP GGIGDFGKYP NCTGGAAGYI DRLLLGDDHL
480 YQHPSSAVLY HTEVAYDPEG ILGTINSIVM AFLGVQAGKI LLYYKARTKD ILIRFTAWCC
540 ILGLISVALT KVSENEGFIP VNKNLWSLSY VTTLSSFAFF ILLVLYPVVD VKGLWTGTPF
600 FYPGMNSILV YVGHEVFENY FPFQWKLKDN QSHKEHLTQN IVATALWVLI AYILYRKKIF
660 WKI
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Download all sequences for 2.3.1.78
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Additional data for 2.3.1.78 and Homo sapiens
Sequence related references
Sequence Reference
Authors
Title
Journal
Volume
Pages
Year
PubMed ID
1126256
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
1126257
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
1126258
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
1126259
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
1126260
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
1126261
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
1126262
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
1126263
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
1126264
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
31233-31242
2010
1126265
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
1126266
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
1126267
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.
24
3742-3751
2015
1126268
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.
13
374-380
2017
1126269
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
1126270
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
1126271
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
1126272
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
1126273
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
1126274
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