Cloned (Comment) | Organism |
---|---|
gene CHSY1, soluble forms of wild-type and mutant ChSy-1 is heterologously expressed in COS-1 cells, the recombinant enzymes are secreted to the medium, quantitative real-time RT-PCR enzyme expression analysis | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
F362S | naturally occuring missense mutation of the enzyme activity-related, highly conserved residue, the mutant protein has a 56% decrease in GalNAcT-II activity and a 55% decrease in GlcAT-II activity compared to the wild-type | Homo sapiens |
additional information | two missense mutations in the CHSY1 gene in patients with neuropathy. These mutations are associated with a profound decrease in enzyme activity. Construction of a soluble form of ChSy-1 | Homo sapiens |
Metals/Ions | Comment | Organism | Structure |
---|---|---|---|
Mn2+ | required | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | chondroitin synthase-1 has two glycosyltransferase activities: it acts as a GlcUA and a GalNAc transferase and is responsible for adding repeated disaccharide units to growing chondroitin sulfate chains | ? | - |
? | |
UDP-alpha-D-glucuronate + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan | Homo sapiens | - |
UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q86X52 | gene CHSY1 | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | chondroitin synthase-1 has two glycosyltransferase activities: it acts as a GlcUA and a GalNAc transferase and is responsible for adding repeated disaccharide units to growing chondroitin sulfate chains | Homo sapiens | ? | - |
? | |
UDP-alpha-D-glucuronate + N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan | - |
Homo sapiens | UDP + beta-D-glucuronosyl-(1->3)-N-acetyl-beta-D-galactosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan | - |
? |
Synonyms | Comment | Organism |
---|---|---|
chondroitin glucuronyltransferase II | UniProt | Homo sapiens |
chondroitin sulfate synthase-1 | - |
Homo sapiens |
ChSy-1 | - |
Homo sapiens |
Temperature Optimum [°C] | Temperature Optimum Maximum [°C] | Comment | Organism |
---|---|---|---|
37 | - |
assay at | Homo sapiens |
pH Optimum Minimum | pH Optimum Maximum | Comment | Organism |
---|---|---|---|
6.5 | - |
assay at | Homo sapiens |
General Information | Comment | Organism |
---|---|---|
evolution | the enzyme is a member of the ChSy family | Homo sapiens |
malfunction | two missense mutations occur in the chondroitin N-acetylgalactosaminyltransferase-1 gene in patients with neuropathy. These mutations are associated with a profound decrease in enzyme activity. The chondroitin synthase-1 F362S mutation in a patient with neuropathy results in a decrease in chondroitin polymerization activity and the mutant protein is defective in regulating the number of chondroitin sulfate chains via CHSY1. The progression of peripheral neuropathies may result from defects in these regulatory systems | Homo sapiens |
physiological function | the enzyme initiates the elongation of chondroitin sulfate chains | Homo sapiens |