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2.3.1.78: heparan-alpha-glucosaminide N-acetyltransferase

This is an abbreviated version!
For detailed information about heparan-alpha-glucosaminide N-acetyltransferase, go to the full flat file.

Word Map on EC 2.3.1.78

Reaction

acetyl-CoA
+
heparan sulfate alpha-D-glucosaminide
=
CoA
 +
heparan sulfate N-acetyl-alpha-D-glucosaminide

Synonyms

acetyl-CoA:alpha-glucosaminide N-acetyltransferase, acetyl-coenzyme A-alpha-glucosaminide N-acetyltransferase, acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase, acetyl-coenzyme:alpha-D-2-amino-glucosamine transferase, acetyltransferase, alpha-glucosaminide, acetyl–coenzyme A:alpha-glucosaminide N-acetyltransferase, GNAT, heparan sulfate acetyl-CoA: alpha-glucosaminide N-acetyltransferase, heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase, HGSNAT, TMEM76, transmembrane protein 76

ECTree

     2 Transferases
         2.3 Acyltransferases
             2.3.1 Transferring groups other than aminoacyl groups
                2.3.1.78 heparan-alpha-glucosaminide N-acetyltransferase

Reference

topprint

Reference on EC 2.3.1.78 - heparan-alpha-glucosaminide N-acetyltransferase

Please use the Reference Search for a specific query.
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REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Klein, U.; Kresse, H.; Von Figura, K.
Sanfilippo syndrome type C: deficiency of acetyl-CoA: alpha-glucosaminide N-acetyltransferase in skin fibroblasts
Proc. Natl. Acad. Sci. USA
75
5185-5189
1978
Homo sapiens
Manually annotated by BRENDA team
Pohlmann, R.; Klein, U.; Fromme, H.G.; Von Figura, K.
Localisation of acetyl-CoA: alpha-glucosaminide N-acetyltransferase in microsomes and lysosomes of rat liver
Hoppe-Seyler's Z. Physiol. Chem.
362
1199-1207
1981
Rattus norvegicus
Manually annotated by BRENDA team
Bame, K.J.; Rome, L.H.
Acetyl-CoA: alpha-glucosaminide N-acetyltransferase from rat liver
Methods Enzymol.
138
607-611
1987
Rattus norvegicus
Manually annotated by BRENDA team
Bame, K.J.; Rome, L.H.
Acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase. Evidence for an active site histidine residue
J. Biol. Chem.
261
10127-10132
1986
Rattus norvegicus
Manually annotated by BRENDA team
Bame, K.J.; Rome, L.H.
Acetyl coenzyme A:alpha-glucosaminide N-acetyltransferase. Evidence for a transmembrane acetylation mechanism
J. Biol. Chem.
260
11293-11299
1985
Rattus norvegicus
Manually annotated by BRENDA team
Reynertson, R.; Campbell, P.; Ford, J.D.; Jacobsson, I.; Roden, L.; Thompson, J.N.
New oligosaccharides from heparin and heparan sulfate and their use as substrates for heparin-degrading enzymes
J. Biol. Chem.
258
7449-7459
1983
Homo sapiens
Manually annotated by BRENDA team
Meikle, P.J.; Whittle, A.M.; Hopwood, J.J.
Human acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase. Kinetic characterization and mechanistic interpretation
Biochem. J.
308
327-333
1995
Homo sapiens
-
Manually annotated by BRENDA team
Voznyi, Y.V.; Karpova, E.A.; Dudukina, T.V.; Tsvetkova, I.V.; Boer, A.M.; Janse, H.C.; van Diggelen, O.P.
A fluorometric enzyme assay for the diagnosis of Sanfilippo disease C (MPS III C)
J. Inherit. Metab. Dis.
16
465-472
1993
Homo sapiens
Manually annotated by BRENDA team
Taute, A.; Watzig, K.; Simons, B.; Lohaus, C.; Meyer, H.E.; Hasilik, A.
Presence of detergent-resistant microdomains in lysosomal membranes
Biochem. Biophys. Res. Commun.
298
5-9
2002
Homo sapiens
Manually annotated by BRENDA team
Gerber, S.A.; Turecek, F.; Gelb, M.H.
Design and synthesis of substrate and internal standard conjugates for profiling enzyme activity in the Sanfilippo syndrome by affinity chromatography/electrospray ionization mass spectrometry
Bioconjug. Chem.
12
603-615
2001
Homo sapiens
Manually annotated by BRENDA team
Nelson, K.; Melville, E.L.; Meikle, P.J.; Anson, D.S.
Immortalisation of a mucopolysaccharidosis type IIIC fibroblast cell line via expression of SV40 T antigen
Cell Biol. Int.
27
567-570
2003
Homo sapiens
Manually annotated by BRENDA team
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.; van de Kamp, J.
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome)
Am. J. Hum. Genet.
79
807-819
2006
Mus musculus (Q3UDW8), Mus musculus, Homo sapiens (Q68CP4), Homo sapiens
Manually annotated by BRENDA team
Ausseil, J.; Landry, K.; Seyrantepe, V.; Trudel, S.; Mazur, A.; Lapointe, F.; Pshezhetsky, A.V.
An acetylated 120-kDa lysosomal transmembrane protein is absent from mucopolysaccharidosis IIIC fibroblasts: a candidate molecule for MPS IIIC
Mol. Genet. Metab.
87
22-31
2006
Homo sapiens (Q68CP4)
Manually annotated by BRENDA team
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
Homo sapiens
Manually annotated by BRENDA team
Feldhammer, M.; Durand, S.; Pshezhetsky, A.V.
Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C
PLoS ONE
4
e7434
2009
Homo sapiens
Manually annotated by BRENDA team
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
Homo sapiens (Q68CP4), Homo sapiens
Manually annotated by BRENDA team
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
Homo sapiens (Q68CP4), Homo sapiens
Manually annotated by BRENDA team
Choi, Y.; Tuzikov, A.B.; Ovchinnikova, T.V.; Bovin, N.V.; Pshezhetsky, A.V.
Novel direct assay for acetyl-CoA:alpha-glucosaminide N-acetyltransferase using BODIPY-glucosamine as a substrate
JIMD Rep.
28
11-18
2015
Homo sapiens (Q68CP4), Homo sapiens
Manually annotated by BRENDA team
Fedele, A.O.; Isenmann, S.; Kamei, M.; Snel, M.F.; Trim, P.J.; Proud, C.G.; Hopwood, J.J.
Lysosomal N-acetyltransferase interacts with ALIX and is detected in extracellular vesicles
Biochim. Biophys. Acta
1865
1451-1464
2018
Homo sapiens (Q68CP4), Homo sapiens
Manually annotated by BRENDA team
Choi, Y.; Tuzikov, A.; Ovchinnikova, T.; Bovin, N.; Pshezhetsky, A.
Novel direct assay for acetyl-CoA alpha-glucosaminide N-acetyltransferase using BODIPY-glucosamine as a substrate
JIMD Rep.
28
11-18
2016
Homo sapiens (Q68CP4), Homo sapiens
Manually annotated by BRENDA team