Annotation inferences using phylogenetic trees
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Molecular cloning and expression of a human chondroitin synthase.
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Describes cloning of the 802-aa chromosome-15 chondroitin synthase (CHSY1), which has both GlcUA- and GalNAc-transferase activities. CSGALNACT1 was not studied.
"The identified protein consists of 802 amino acids with a type II transmembrane protein topology"
Molecular cloning and expression of human chondroitin N-acetylgalactosaminyltransferase: the key enzyme for chain initiation and elongation of chondroitin/dermatan sulfate on the protein linkage region tetrasaccharide shared by heparin/heparan sulfate.
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Cloning of CSGALNACT1 (532 aa, chromosome 8), with GalNAcT-I and GalNAcT-II activities.
"not only to a polymer chondroitin representing growing chondroitin chains (beta-GalNAc transferase II activity) but also to"
Enzymatic synthesis of chondroitin with a novel chondroitin sulfate N-acetylgalactosaminyltransferase that transfers N-acetylgalactosamine to glucuronic acid in initiation and elongation of chondroitin sulfate synthesis.
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Recombinant CSGALNACT1 transfers GalNAc to chondroitin polymers, oligosaccharides and the linkage tetrasaccharide.
"N-Acetylgalactosaminyltransferase activity was observed toward chondroitin poly- and oligosaccharides"
Differential roles of two N-acetylgalactosaminyltransferases, CSGalNAcT-1, and a novel enzyme, CSGalNAcT-2. Initiation and elongation in synthesis of chondroitin sulfate.
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CSGALNACT1 is the main chain initiator; CSGALNACT2 mainly elongates.
"CSGalNAcT-1 is involved in the initiation of chondroitin sulfate synthesis, whereas CSGalNAcT-2 participates mainly in the elongation, not initiation"
Chondroitin sulfate N-acetylgalactosaminyltransferase-1 plays a critical role in chondroitin sulfate synthesis in cartilage.
Chondroitin beta-1,4-N-acetylgalactosaminyltransferase-1 missense mutations are associated with neuropathies.
Chondroitin Sulfate N-acetylgalactosaminyltransferase-1 (CSGalNAcT-1) Deficiency Results in a Mild Skeletal Dysplasia and Joint Laxity.
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The biallelic P384R variant reduces GalNAc-transferase activity and causes a Desbuquois-like skeletal dysplasia.
"Biochemical studies revealed a reduced GalNAc-transferase activity of the Arg-384 mutant protein"
Biallelic CSGALNACT1-mutations cause a mild skeletal dysplasia.
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
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Patient missense variants reduce activity. Patient fibroblasts have fewer CS/DS chains and more HS, the latter from unused linker acceptor.
"Biochemical studies demonstrated significantly reduced CSGalNAcT-1 activity of the novel missense variants"
CSGALNACTs transfer GalNAc to CS linker glycan
CSGALNACTs transfer GalNAc to CS chain