Application | Comment | Organism |
---|---|---|
medicine | mucopolysaccharidosis type IIIC or Sanfilippo syndrome type C is an autosomal recessive disorder caused by deficiency of heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
into the pCTAP vector | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
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 | Homo sapiens |
A615T | mutant represents a rare polymorphism which has no effect on the activity, processing and targeting of the enzyme | Homo sapiens |
C76F | missense mutant, mutation causes misfolding of the enzyme, which is abnormally glycosylated and not targeted to the lysosome, but retained in the endoplasmic reticulum | Homo sapiens |
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 | Homo sapiens |
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 | Homo sapiens |
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 | Homo sapiens |
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 | Homo sapiens |
K523Q | mutant represents a rare polymorphism which has no effect on the activity, processing and targeting of the enzyme | Homo sapiens |
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 | Homo sapiens |
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 | Homo sapiens |
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 | Homo sapiens |
P237Q | mutant represents a rare polymorphism which has no effect on the activity, processing and targeting of the enzyme | Homo sapiens |
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 | Homo sapiens |
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 | Homo sapiens |
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 | Homo sapiens |
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 | Homo sapiens |
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 | Homo sapiens |
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 | Homo sapiens |
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 | Homo sapiens |
V481L | mutant represents a rare polymorphism which has no effect on the activity, processing and targeting of the enzyme | Homo sapiens |
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 | Homo sapiens |
Inhibitors | Comment | Organism | Structure |
---|---|---|---|
D-glucosamine | competitive inhibitor | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosomal membrane | - |
Homo sapiens | 5765 | - |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
67000 | - |
all missense mutants have a smaller molecular mass of ca. 67 kDa, determined by SDS-PAGE and Western blot analysis | Homo sapiens |
77000 | - |
the four polymorphisms, mutant P237Q, V481L, K523Q and A615T, determined by SDS-PAGE and Western blot analysis | Homo sapiens |
77000 | - |
wild-type enzyme, determined by SDS-PAGE and Western blot analysis | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
acetyl-CoA + heparan sulfate alpha-D-glucosaminide | Homo sapiens | - |
CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Purification (Comment) | Organism |
---|---|
purified from transfected COS-7 cells by ion-exchange chromatography on a Mono Q HR 5/5 column | Homo sapiens |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
skin fibroblast | - |
Homo sapiens | - |
Specific Activity Minimum [µmol/min/mg] | Specific Activity Maximum [µmol/min/mg] | Comment | Organism |
---|---|---|---|
additional information | - |
mutant A489E, relative activity 23.1%, wild-type 100% | Homo sapiens |
additional information | - |
mutant A615T, relative activity 54.9%, wild-type 100% | Homo sapiens |
additional information | - |
mutant C76F, relative activity 15.4%, wild-type 100% | Homo sapiens |
additional information | - |
mutant D562V, relative activity 22.0%, wild-type 100% | Homo sapiens |
additional information | - |
mutant E471K, relative activity 19.8%, wild-type 100% | Homo sapiens |
additional information | - |
mutant G262R, relative activity 17.6%, wild-type 100% | Homo sapiens |
additional information | - |
mutant G424S, relative activity 18.7%, wild-type 100% | Homo sapiens |
additional information | - |
mutant K523Q, relative activity 96.7%, wild-type 100% | Homo sapiens |
additional information | - |
mutant L137P, relative activity 17.6%, wild-type 100% | Homo sapiens |
additional information | - |
mutant M482K, relative activity 24.2%, wild-type 100% | Homo sapiens |
additional information | - |
mutant N273K, relative activity 18.7%, wild-type 100% | Homo sapiens |
additional information | - |
mutant P237Q, relative activity 108.8%, wild-type 100% | Homo sapiens |
additional information | - |
mutant P283L, relative activity 20.9%, wild-type 100% | Homo sapiens |
additional information | - |
mutant P571L, relative activity 22.0%, wild-type 100% | Homo sapiens |
additional information | - |
mutant R344C, relative activity 12.1%, wild-type 100% | Homo sapiens |
additional information | - |
mutant R344H, relative activity 14.3%, wild-type 100% | Homo sapiens |
additional information | - |
mutant S518F, relative activity 30.8%, wild-type 100% | Homo sapiens |
additional information | - |
mutant S539C, relative activity 27.5%, wild-type 100% | Homo sapiens |
additional information | - |
mutant S541L, relative activity 23.1%, wild-type 100% | Homo sapiens |
additional information | - |
mutant V481L, relative activity 114.3%, wild-type 100% | Homo sapiens |
additional information | - |
mutant W403C, relative activity 17.6%, wild-type 100% | Homo sapiens |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
acetyl-CoA + 4-methylumbelliferyl beta-D-glucosaminide | substrate activity assay | Homo sapiens | ? | - |
? | |
acetyl-CoA + heparan sulfate alpha-D-glucosaminide | - |
Homo sapiens | CoA + heparan sulfate N-acetyl-alpha-D-glucosaminide | - |
? |
Synonyms | Comment | Organism |
---|---|---|
heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase | - |
Homo sapiens |
HGSNAT | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
37 | - |
activity assay | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
5.7 | - |
activity assay | Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
acetyl-CoA | - |
Homo sapiens |