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Information on EC 2.3.1.78 - heparan-alpha-glucosaminide N-acetyltransferase and Organism(s) Mus musculus and UniProt Accession Q3UDW8

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EC Tree
IUBMB Comments
Brings about the acetylation of glucosamine groups of heparan sulfate and heparin from which the sulfate has been removed. Also acts on heparin. Not identical with EC 2.3.1.3 glucosamine N-acetyltransferase or EC 2.3.1.4 glucosamine-phosphate N-acetyltransferase.
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This record set is specific for:
Mus musculus
UNIPROT: Q3UDW8
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The taxonomic range for the selected organisms is: Mus musculus
The expected taxonomic range for this enzyme is: Bacteria, Eukaryota
Synonyms
hgsnat, acetyl-coa:alpha-glucosaminide n-acetyltransferase, heparan-alpha-glucosaminide n-acetyltransferase, tmem76, transmembrane protein 76, acetyl-coenzyme a:alpha-glucosaminide n-acetyltransferase, heparan sulfate acetyl-coa alpha-glucosaminide n-acetyltransferase, more
SYNONYM
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase
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transmembrane protein 76
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acetyl-CoA:alpha-glucosaminide N-acetyltransferase
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acetyl-coenzyme A-alpha-glucosaminide N-acetyltransferase
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acetyltransferase, alpha-glucosaminide
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REACTION TYPE
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
Acyl group transfer
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PATHWAY SOURCE
PATHWAYS
SYSTEMATIC NAME
IUBMB Comments
acetyl-CoA:heparan-alpha-D-glucosaminide N-acetyltransferase
Brings about the acetylation of glucosamine groups of heparan sulfate and heparin from which the sulfate has been removed. Also acts on heparin. Not identical with EC 2.3.1.3 glucosamine N-acetyltransferase or EC 2.3.1.4 glucosamine-phosphate N-acetyltransferase.
CAS REGISTRY NUMBER
COMMENTARY hide
79955-83-2
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SUBSTRATE
PRODUCT                       
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
Reversibility
r=reversible
ir=irreversible
?=not specified
acetyl-CoA + 4-methylumbelliferyl-alpha-D-glucosaminide
CoA + 4-methylumbelliferyl-N-acetyl-alpha-D-glucosaminide
show the reaction diagram
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?
acetyl-CoA + heparan sulfate alpha-D-glucosaminide
CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide
show the reaction diagram
NATURAL SUBSTRATE
NATURAL PRODUCT
REACTION DIAGRAM
ORGANISM
UNIPROT
COMMENTARY
(Substrate) hide
LITERATURE
(Substrate)
COMMENTARY
(Product) hide
LITERATURE
(Product)
REVERSIBILITY
r=reversible
ir=irreversible
?=not specified
acetyl-CoA + heparan sulfate alpha-D-glucosaminide
CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide
show the reaction diagram
mucopolysaccharidosis IIIC (MPS IIIC, or Sanfilippo C syndrome) is a lysosomal storage disorder caused by the inherited deficiency of the lysosomal membrane enzyme acetyl-coenzyme A:alpha-glucosaminide N-acetyltransferase, which leads to impaired degradation of heparan sulfate. Structural protein that transports the activated acetyl residues across the cell membrane
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ORGANISM
COMMENTARY hide
LITERATURE
UNIPROT
SEQUENCE DB
SOURCE
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SwissProt
Manually annotated by BRENDA team
LOCALIZATION
ORGANISM
UNIPROT
COMMENTARY hide
GeneOntology No.
LITERATURE
SOURCE
UNIPROT
ENTRY NAME
ORGANISM
NO. OF AA
NO. OF TRANSM. HELICES
MOLECULAR WEIGHT[Da]
SOURCE
SEQUENCE
LOCALIZATION PREDICTION?
HGNAT_MOUSE
656
12
72504
Swiss-Prot
Mitochondrion (Reliability: 4)
CLONED (Commentary)
ORGANISM
UNIPROT
LITERATURE
REF.
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
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
Homo sapiens (Q68CP4), Homo sapiens, Mus musculus (Q3UDW8), Mus musculus
Manually annotated by BRENDA team