RGD Reference Report - Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family.

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Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family.
Authors:	Almeida, R Levery, SB Mandel, U Kresse, H Schwientek, T Bennett, EP Clausen, H
Citation:	Almeida R, etal., J Biol Chem. 1999 Sep 10;274(37):26165-71.
RGD ID:	1599433
Pubmed:	PMID:10473568 (View Abstract at PubMed)
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., Roden, 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.

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Object Symbol	Species	Term	Qualifier	Evidence	With	Notes	Source	Original Reference(s)
B4GALT7	Human	Ehlers-Danlos syndrome	susceptibility	IAGP		DNA:transition:exon and 808C>T	RGD
B4galt7	Rat	Ehlers-Danlos syndrome	susceptibility	ISO	B4GALT7 (Homo sapiens)	DNA:transition:exon and 808C>T	RGD
B4galt7	Mouse	Ehlers-Danlos syndrome	susceptibility	ISO	B4GALT7 (Homo sapiens)	DNA:transition:exon and 808C>T	RGD

Objects Annotated

Genes (Rattus norvegicus)

B4galt7 (beta-1,4-galactosyltransferase 7)

Genes (Mus musculus)

B4galt7 (beta-1,4-galactosyltransferase 7)

Genes (Homo sapiens)

B4GALT7 (beta-1,4-galactosyltransferase 7)

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Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family.