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
-
2.3.1.78
-
lysosomal
-
mucopolysaccharidosis
-
sanfilippo
-
glycosaminoglycans
-
naglu
-
alpha-n-acetylglucosaminidase
-
medicine
-
sulfamidase
-
n-acetylglucosamine-6-sulfatase
-
splice-site
-
facies
-
nonsyndromic
-
pigmentosa
-
analysis
- 2.3.1.78
- lysosomal
- mucopolysaccharidosis
-
sanfilippo
- glycosaminoglycans
- naglu
- alpha-n-acetylglucosaminidase
- medicine
-
sulfamidase
- n-acetylglucosamine-6-sulfatase
-
splice-site
-
facies
-
nonsyndromic
- pigmentosa
- analysis
Reaction
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
Advanced search results
Engineering
Engineering on EC 2.3.1.78 - heparan-alpha-glucosaminide N-acetyltransferase
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
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
C76F
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
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
-
missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum
C76F
mutation within the lysosomal luminal loops, complete loss of activity. Mutants does not undergo intralysosomal maturation
-
c.1-1925_118+296del, mutation, 2339-bp deletion including exon 1
additional information
-
c.1030C>T, missense mutation, predicted effect on protein, p.R344C
additional information
-
c.1209G>T, missense mutation, predicted effect on protein, p.W403C
additional information
-
c.1271dupG, mutation, predicted effect on protein, p.I425HfsX45
additional information
-
c.1411G>A, missense mutation, predicted effect on protein, p.E471K
additional information
-
c.1441G>T, polymorphism, predicted effect on protein, p.V481L
additional information
-
c.1457G>A, missense mutation, predicted effect on protein, p.G486E
additional information
-
c.1466C>A, missense mutation, predicted effect on protein, p.A489E
additional information
-
c.1516C>T, nonsense mutation, predicted effect on protein, p.R506X, premature termination codon
additional information
-
c.1553C>T, missense mutation, predicted effect on protein, p.S518F
additional information
-
c.1622C>T, missense mutation, predicted effect on protein, p.S541L
additional information
-
c.1674C>G, nonsense mutation, predicted effect on protein, p.Y558X, premature termination codon
additional information
-
c.1843G>A, polymorphism, predicted effect on protein, p.A615T
additional information
-
c.410T>C, missense mutation, predicted effect on protein, p.L137P
additional information
-
c.641delG, mutation, predicted effect on protein, p.Gly214AspfsX62
additional information
-
c.739delA, mutation, predicted effect on protein, p.R247GfsX29
additional information
-
c.848C>T, missense mutation, predicted effect on protein, p.P283L
additional information
-
c.887C>A, nonsense mutation, predicted effect on protein, p.S296X, premature termination codon
additional information
deletion of 12 residues at the C terminus of the enzyme, del624-635, leads to localization of the protein to the plasma membrane, in contrast to the lysosomal localization of wild-type enzyme. Mutant protein does not show maturation and has no enzymic activity
additional information
-
deletion of 12 residues at the C terminus of the enzyme, del624-635, leads to localization of the protein to the plasma membrane, in contrast to the lysosomal localization of wild-type enzyme. Mutant protein does not show maturation and has no enzymic activity
additional information
mutation of a putative LYPXnL-based binding site within HGSNAT for the V-domain of ALIX ablates association of HGSNAT with ALIX, posttranslational maturation, and transport through the endolysosomal network
additional information
-
mutation of a putative LYPXnL-based binding site within HGSNAT for the V-domain of ALIX ablates association of HGSNAT with ALIX, posttranslational maturation, and transport through the endolysosomal network