| http://purl.uniprot.org/citations/10473568 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10473568 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10473568 | http://www.w3.org/2000/01/rdf-schema#comment | "A seventh member of the human beta4-galactosyltransferase family, beta4Gal-T7, was identified by BLAST analysis of expressed sequence tags. The coding region of beta4Gal-T7 depicts a type II transmembrane protein with sequence similarity to beta4-galactosyltransferases, but the sequence was distinct in known motifs and did not contain the cysteine residues conserved in the other six members of the beta4Gal-T family. The genomic organization of beta4Gal-T7 was different from previous beta4Gal-Ts. Expression of beta4Gal-T7 in insect cells showed that the gene product had beta1,4-galactosyltransferase activity with beta-xylosides, and the linkage formed was Galbeta1-4Xyl. Thus, beta4Gal-T7 represents galactosyltransferase I enzyme (xylosylprotein beta1, 4-galactosyltransferase; EC 2.4.1.133), which attaches the first galactose in the proteoglycan linkage region GlcAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser. Sequence analysis of beta4Gal-T7 from a fibroblast cell line of a patient with a progeroid syndrome and signs of the Ehlers-Danlos syndrome, previously shown to exhibit reduced galactosyltransferase I activity (Quentin, E., Gladen, A., Rodén, L., and Kresse, H. (1990) Proc. Natl. Acad. Sci. U. S. A. 87, 1342-1346), revealed two inherited allelic variants, beta4Gal-T7(186D) and beta4Gal-T7(206P), each with a single missense substitution in the putative catalytic domain of the enzyme. beta4Gal-T7(186D) exhibited a 4-fold elevated K(m) for the donor substrate, whereas essentially no activity was demonstrated with beta4Gal-T7(206P). Molecular cloning of beta4Gal-T7 should facilitate general studies of its pathogenic role in progeroid syndromes and connective tissue disorders with affected proteoglycan biosynthesis."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.274.37.26165"xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.org/dc/terms/identifier | "doi:10.1074/jbc.274.37.26165"xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/author | "Bennett E.P."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/author | "Bennett E.P."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/author | "Clausen H."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/author | "Clausen H."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/author | "Levery S.B."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/author | "Levery S.B."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/author | "Almeida R."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/author | "Almeida R."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/author | "Mandel U."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/author | "Mandel U."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/author | "Schwientek T."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/author | "Schwientek T."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/author | "Kresse H."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/author | "Kresse H."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/date | "1999"xsd:gYear |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/name | "J. Biol. Chem."xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/pages | "26165-26171"xsd:string |
| http://purl.uniprot.org/citations/10473568 | http://purl.uniprot.org/core/pages | "26165-26171"xsd:string |