Any feedback?
Please rate this page
(literature.php)
(0/150)

BRENDA support

Literature summary for 2.4.1.226 extracted from

  • Izumikawa, T.; Saigoh, K.; Shimizu, J.; Tsuji, S.; Kusunoki, S.; Kitagawa, H.
    A chondroitin synthase-1 (ChSy-1) missense mutation in a patient with neuropathy impairs the elongation of chondroitin sulfate chains initiated by chondroitin N-acetylgalactosaminyltransferase-1 (2013), Biochim. Biophys. Acta, 1830, 4806-4812.
    View publication on PubMed
Search for more literature for 2.4.1.226

Cloned(Commentary)

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

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

Metals/Ions Comment Organism Structure
Mn2+ required Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens Q86X52 gene CHSY1
-

Substrates and Products (Substrate)

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

Synonyms Comment Organism
chondroitin glucuronyltransferase II UniProt Homo sapiens
chondroitin sulfate synthase-1
-
 Homo sapiens
ChSy-1
-
 Homo sapiens

Temperature Optimum [°C]

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

pH Optimum

pH Optimum Minimum pH Optimum Maximum Comment Organism
6.5
-
 assay at Homo sapiens

General Information

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