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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

Engineering

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

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PROTEIN VARIANTS
ORGANISM
UNIPROT
COMMENTARY hide
LITERATURE
A489E
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
A615T
-
mutant represents a rare polymorphism which has no effect on the activity, processing and targeting of the enzyme
C123S
mutation within the lysosomal luminal loops, complete loss of activity. Mutants does not undergo intralysosomal maturation and does not form the mature oligomer
C151S
mutation within the lysosomal luminal loops, complete loss of activity. Mutants does not undergo intralysosomal maturation
C305S
mutation within the predicted cytosolic luminal loops, no loss of activity
C308S
mutation within the predicted cytosolic luminal loops, no loss of activity
C374S
mutation within the predicted cytosolic luminal loops, no loss of activity
C434S
mutation within the lysosomal luminal loops, complete loss of activity. Mutants does not undergo intralysosomal maturation and does not form the mature oligomer
C79S
mutation within the lysosomal luminal loops, complete loss of activity. Mutants does not undergo intralysosomal maturation
D562V
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
E471K
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
G262R
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
G424S
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
H269A
complete loss of enzymic activity, intralysosomal processing is retained
H451A
complete loss of enzymic activity, no processing observed
H605A
complete loss of enzymic activity, no processing observed
K523Q
-
mutant represents a rare polymorphism which has no effect on the activity, processing and targeting of the enzyme
L137P
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
L208A/I209A
mutation in a predicted dileucine targeting motif, mutant displays both lysosomal and plasma membrane localization
M482K
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
N273K
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
P237Q
-
mutant represents a rare polymorphism which has no effect on the activity, processing and targeting of the enzyme
P283L
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
P571L
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
R344C
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
R344H
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
S518F
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
S539C
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
S541L
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
V481L
-
mutant represents a rare polymorphism which has no effect on the activity, processing and targeting of the enzyme
W403C
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
additional information