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Literature summary for 2.3.1.78 extracted from

  • Feldhammer, M.; Durand, S.; Pshezhetsky, A.V.
    Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C (2009), PLoS ONE, 4, e7434.
    View publication on PubMedView publication on EuropePMC
Search for more literature for 2.3.1.78

Application

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(Commentary)

Cloned (Comment) Organism
into the pCTAP vector Homo sapiens

Protein Variants

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

Inhibitors Comment Organism Structure
D-glucosamine competitive inhibitor Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
lysosomal membrane
-
 Homo sapiens 5765
-

Molecular Weight [Da]

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/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Purification (Commentary)

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

Source Tissue Comment Organism Textmining
skin fibroblast
-
 Homo sapiens
-

Specific Activity [micromol/min/mg]

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 and Products (Substrate)

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

Synonyms Comment Organism
heparan sulfate acetyl-CoA:alpha-glucosaminide N-acetyltransferase
-
 Homo sapiens
HGSNAT
-
 Homo sapiens

Temperature Optimum [°C]

Temperature Optimum [°C] Temperature Optimum Maximum [°C] Comment Organism
37
-
 activity assay Homo sapiens

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
5.7
-
 activity assay Homo sapiens

Cofactor

Cofactor Comment Organism Structure
acetyl-CoA
-
 Homo sapiens