Reference on EC 2.7.8.17 - UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase
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REF. 
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Ben-Yoseph, Y.; Potier, M.; Pack, B.A.; Mitchell, D.A.; Melancon, S.B.; Nadler, H.L.
Molecular size of N-acetylglucosaminylphosphotransferase and alpha-N-acetylglucosaminyl phosphodiesterase as determined in situ in Golgi membranes by radiation inactivation
Biochem. J.
235
883-886
1986
Homo sapiens
Waheed, A.; Pohlmann, R.; Hasilik, A.; von Figura, K.
Subcellular location of two enzymes involved in the synthesis of phosphorylated recognition markers in lysosomal enzymes
J. Biol. Chem.
256
4150-4152
1981
Rattus norvegicus
Hiller, A.M.; Koro, L.A.; Marchase, R.B.
Glucose-1-phosphotransferase and N-acetylglucosamine-1-phosphotransferase have distinct acceptor specificities
J. Biol. Chem.
262
4377-4381
1987
Homo sapiens
Waheed, A.; Hasilik, A.; von Figura, K.
UDP-N-acetylglucosamine:lysosomal enzyme precursor N-acetylglucosamine-1-phosphotransferase. Partial purification and characterization of the rat liver Golgi enzyme
J. Biol. Chem.
257
12322-12331
1982
Rattus norvegicus
Zhao, K.W.; Yeh, R.; Miller, A.L.
Purification and characterization of human lymphoblast N-acetylglucosamine-1-phosphotransferase
Glycobiology
2
119-125
1992
Homo sapiens
Reitman, M.L.; Kornfeld, S.
Lysosomal enzyme targeting. N-Acetylglucosaminylphosphotransferase selectively phosphorylates native lysosomal enzymes
J. Biol. Chem.
256
11977-11980
1981
Rattus norvegicus
Reitman, M.L.; Kornfeld, S.
UDP-N-acetylglucosamine:glycoprotein N-acetylglucosamine-1-phosphotransferase. Proposed enzyme for the phosphorylation of the high mannose oligosaccharide units of lysosomal enzymes
J. Biol. Chem.
256
4275-4281
1981
Cricetulus griseus
Reitman, M.L.; Lang, L.; Kornfeld, S.
UDP-N-acetylglucosamine: lysosomal enzyme N-acetylglucosamine-1-phosphotransferase
Methods Enzymol.
107
163-172
1984
Ovis aries, Homo sapiens, Mus musculus, Rattus norvegicus
Guillen, E.; Quesada-Allue, L.A.; Couso, R.O.
UDP-N-acetylglucosamine: glycoprotein N-acetylglucosamine-1-phosphotransferase activity in pupae of the Mediterranean fruit fly Ceratitis capitata
Insect Biochem. Mol. Biol.
24
213-219
1994
Ceratitis capitata, Ceratitis capitata ARG-17
-
Schierau, A.; Dietz, F.; Lange, H.; Schestag, F.; Parastar, A.; Gieselmann, V.
Interaction of arylsulfatase A with UDP-N-acetylglucosamine:lysosomal enzyme-N-acetylglucosamine-1-phosphotransferase
J. Biol. Chem.
274
3651-3658
1999
Mus musculus
Bao, M.; Elmendorf, B.J.; Booth, J.L.; Drake, R.R.; Canfield, W.M.
Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. II. Enzymatic characterization and identification of the catalytic subunit
J. Biol. Chem.
271
31446-31451
1996
Bos taurus
Bao, M.; Booth, J.L.; Elmendorf, B.J.; Canfield, W.M.
Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure
J. Biol. Chem.
271
31437-31445
1996
Bos taurus
Lukong, K.E.; Elsliger, M.A.; Mort, J.S.; Potier, M.; Pshezhetsky, A.V.
Identification of UDP-N-acetylglucosamine-phosphotransferase-binding sites on the lysosomal proteases, cathepsins A, B, and D
Biochemistry
38
73-80
1999
Rattus norvegicus
Sun, Q.; Li, J.; Wang, C.; Huang, X.; Huang, H.; Du, D.; Liang, Y.; Han, H.
Overexpression of mouse GlcNAc-1-phosphotransferase-gamma subunit in cells induced an I-cell-like phenotype of mucolipidosis
Gene
347
55-64
2005
Mus musculus (Q6S5C2), Mus musculus
Steet, R.; Lee, W.S.; Kornfeld, S.
Identification of the minimal lysosomal enzyme recognition domain in cathepsin D
J. Biol. Chem.
280
33318-33323
2005
Homo sapiens
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 phosphotransferase are encoded by a single cDNA
J. Biol. Chem.
280
36141-36149
2005
Homo sapiens (Q3T906), Homo sapiens
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
Homo sapiens (Q3T906)
Kudo, M.; Canfield, W.M.
Structural requirements for efficient processing and activation of recombinant human UDP-N-acetylglucosamine:lysosomal-enzyme-N-acetylglucosamine-1-phosphotransferase
J. Biol. Chem.
281
11761-11768
2006
Homo sapiens (Q3T906), Homo sapiens
Lu, J.; Takahashi, T.; Ohoka, A.; Nakajima, K.; Hashimoto, R.; Miura, N.; Tachikawa, H.; Gao, X.D.
Alg14 organizes the formation of a multiglycosyltransferase complex involved in initiation of lipid-linked oligosaccharide biosynthesis
Glycobiology
22
504-516
2012
Saccharomyces cerevisiae
Qian, Y.; West, C.M.; Kornfeld, S.
UDP-GlcNAc:Glycoprotein N-acetylglucosamine-1-phosphotransferase mediates the initial step in the formation of the methylphosphomannosyl residues on the high mannose oligosaccharides of Dictyostelium discoideum glycoproteins
Biochem. Biophys. Res. Commun.
393
678-681
2010
Dictyostelium discoideum
Qian, Y.; Lee, I.; Lee, W.; Qian, M.; Kudo, M.; Canfield, W.; Lobel, P.; Kornfeld, S.
Functions of the alpha, beta, gamma subunits of UDP-GlcNAc:Lysosomal enzyme N-acetylglucosamine-1-phosphotransferase
J. Biol. Chem.
285
3360-3370
2010
Homo sapiens
Encarnacao, M.; Kollmann, K.; Trusch, M.; Braulke, T.; Pohl, S.
Post-translational modifications of the gamma-subunit affect intracellular trafficking and complex assembly of GlcNAc-1-phosphotransferase
J. Biol. Chem.
286
5311-5318
2011
Homo sapiens
Franke, M.; Braulke, T.; Storch, S.
Transport of the GlcNAc-1-phosphotransferase alpha/beta-subunit precursor protein to the golgi apparatus requires a combinatorial sorting motif
J. Biol. Chem.
288
1238-1249
2013
Homo sapiens (Q3T906), Homo sapiens
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
Homo sapiens (Q3T906), Homo sapiens
van Meel, E.; Kornfeld, S.
Mucolipidosis III GNPTG missense mutations cause misfolding of the gamma subunit of GlcNAc-1-phosphotransferase
Hum. Mutat.
37
623-626
2016
Homo sapiens (Q9UJJ9), Homo sapiens
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
Danio rerio, Homo sapiens (Q3T906), Homo sapiens
van Meel, E.; Lee, W.S.; Liu, L.; Qian, Y.; Doray, B.; Kornfeld, S.
Multiple domains of GlcNAc-1-phosphotransferase mediate recognition of lysosomal enzymes
J. Biol. Chem.
291
8295-8307
2016
Homo sapiens (Q3T906 AND Q9UJJ9)
Ko, A.R.; Jin, D.K.; Cho, S.Y.; Park, S.W.; Przybylska, M.; Yew, N.S.; Cheng, S.H.; Kim, J.S.; Kwak, M.J.; Kim, S.J.; Sohn, Y.B.
AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II
Mol. Genet. Metab.
117
447-455
2016
Mus musculus (Q69ZN6), Mus musculus
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. USA
110
10246-10251
2013
Homo sapiens (Q3T906 AND Q9UJJ9)
van Meel, E.; Qian, Y.; Kornfeld, S.A.
Mislocalization of phosphotransferase as a cause of mucolipidosis III alphabeta
Proc. Natl. Acad. Sci. USA
111
3532-3537
2014
Homo sapiens (Q3T906), Homo sapiens
Blanz, J.; Zunke, F.; Markmann, S.; Damme, M.; Braulke, T.; Saftig, P.; Schwake, M.
Mannose 6-phosphate-independent lysosomal sorting of LIMP-2
Traffic
16
1127-1136
2015
Homo sapiens (Q3T906 AND Q9UJJ9), Mus musculus (Q69ZN6 AND Q6S5C2), Mus musculus
Wang, P.; Mazrier, H.; Rae, J.C.; Raj, K.; Giger, U.
A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease)
BMC Vet. Res.
14
416
2018
Felis catus (M3W9A8), Felis catus
Liu, L.; Lee, W.; Doray, B.; Kornfeld, S.
Role of spacer-1 in the maturation and function of GlcNAc-1-phosphotransferase
FEBS Lett.
591
47-55
2017
Homo sapiens (Q3T906)
Voltolini Velho, R.; Harms, F.L.; Danyukova, T.; Ludwig, N.F.; Friez, M.J.; Cathey, S.S.; Filocamo, M.; Tappino, B.; Gnes, N.; Tysz, B.; Tylee, K.L.; Brammeier, K.L.; Heptinstall, L.; Oussoren, E.; van der Ploeg, A.T.; Petersen, C.; Alves, S.; Duran Saavedra, G.; Schwartz, I.V.; Muschol, N.; Kutsche, K.; Pohl, S.
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma Update on GNPTAB and GNPTG mutations
Hum. Mutat.
40
842-864
2019
Homo sapiens (Q3T906), Homo sapiens
Lee, W.S.; Jennings, B.C.; Doray, B.; Kornfeld, S.
Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention
Hum. Mutat.
41
1321-1328
2020
Homo sapiens (Q3T906)
Di Lorenzo, G.; Voltolini Velho, R.; Winter, D.; Thelen, M.; Ahmadi, S.; Schweizer, M.; De Pace, R.; Cornils, K.; Yorgan, T.A.; Grueb, S.; Hermans-Borgmeyer, I.; Schinke, T.; Mueller-Loennies, S.; Braulke, T.; Pohl, S.
Lysosomal proteome and secretome analysis identifies missorted enzymes and their nondegraded substrates in mucolipidosis III mouse cells
Mol. Cell. Proteomics
17
1612-1626
2018
Mus musculus (Q6S5C2), Mus musculus
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