Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniPathway vocabulary mapping
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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
Biosynthesis of the linkage region of glycosaminoglycans: cloning and activity of galactosyltransferase II, the sixth member of the beta 1,3-galactosyltransferase family (beta 3GalT6).
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The original characterization identifies GalT-II chemistry, medial-Golgi localization and a cellular GAG-synthesis phenotype.
"Its localization in the medial
Golgi"
Defining the membrane proteome of NK cells.
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders.
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.
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Patient fibroblasts show defective GAG priming, impaired decorin glycanation and reduced heparan sulfate.
"impaired glycanation of the small chondroitin/dermatan
sulfate proteoglycan decorin"
A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations.
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Some pathogenic variants are ER retained whereas others traffic normally, separating trafficking defects from other mechanisms of dysfunction.
"Retention in endoplasmic reticulum was
evident in 6 of them"
B3GALT6 transfers Gal to the tetrasaccharide linker
Glycosaminoglycan-protein linkage region biosynthesis
Defective B3GALT6 does not transfer Gal to the tetrasaccharide linker
Xylose phosphorylation functions as a molecular switch to regulate proteoglycan biosynthesis.
B3GALT6 mutations lead to compromised connective tissue biomechanics in Ehlers-Danlos syndrome.
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B3GAT3/GlcAT-I can bypass the B3GALT6 step in tested systems, contributing to residual GAG synthesis through a noncanonical trisaccharide linker.
"GlcAT-I can produce a noncanonical trisaccharide linker from different acceptor substrates when β3GalT6 activity is defective"