B4GALT7

Xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I), also known as B4GALT7, is a human gene.cite web | title = Entrez Gene: B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11285| accessdate = ]

PBB_Summary
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summary_text = This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein (GlcA-beta1,3-Gal-beta1,3-Gal-beta1,4-Xyl-beta1-O-Ser) linkage found in proteoglycans. Manganese is required as a cofactor. This enzyme differs from the other six beta4GalTs because it lacks the conserved beta4GalT1-beta4GalT6 Cys residues and it is located in cis-Golgi instead of trans-Golgi. Two single-nucleotide mutations were identified from a patient with the progeroid type of Ehlers-Danlos syndrome.cite web | title = Entrez Gene: B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11285| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Amado M, Almeida R, Schwientek T, Clausen H |title=Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions. |journal=Biochim. Biophys. Acta |volume=1473 |issue= 1 |pages= 35–53 |year= 2000 |pmid= 10580128 |doi=
*cite journal | author=Seidler DG, Faiyaz-Ul-Haque M, Hansen U, "et al." |title=Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers-Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (beta4GalT-7). |journal=J. Mol. Med. |volume=84 |issue= 7 |pages= 583–94 |year= 2007 |pmid= 16583246 |doi= 10.1007/s00109-006-0046-4
*cite journal | author=Gulberti S, Lattard V, Fondeur M, "et al." |title=Phosphorylation and sulfation of oligosaccharide substrates critically influence the activity of human beta1,4-galactosyltransferase 7 (GalT-I) and beta1,3-glucuronosyltransferase I (GlcAT-I) involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. |journal=J. Biol. Chem. |volume=280 |issue= 2 |pages= 1417–25 |year= 2005 |pmid= 15522873 |doi= 10.1074/jbc.M411552200
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Clark HF, Gurney AL, Abaya E, "et al." |title=The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. |journal=Genome Res. |volume=13 |issue= 10 |pages= 2265–70 |year= 2003 |pmid= 12975309 |doi= 10.1101/gr.1293003
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Kuroiwa A, Matsuda Y, Okajima T, Furukawa K |title=Assignment of human xylosylprotein beta-1,4-galactosyltransferase gene (B4GALT7) to human chromosome 5q35.2-->q35.3 by in situ hybridization. |journal=Cytogenet. Cell Genet. |volume=89 |issue= 1-2 |pages= 8–9 |year= 2000 |pmid= 10894925 |doi=
*cite journal | author=Okajima T, Fukumoto S, Furukawa K, Urano T |title=Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene. |journal=J. Biol. Chem. |volume=274 |issue= 41 |pages= 28841–4 |year= 1999 |pmid= 10506123 |doi=
*cite journal | author=Almeida R, Levery SB, Mandel U, "et al." |title=Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family. |journal=J. Biol. Chem. |volume=274 |issue= 37 |pages= 26165–71 |year= 1999 |pmid= 10473568 |doi=
*cite journal | author=Okajima T, Yoshida K, Kondo T, Furukawa K |title=Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans. |journal=J. Biol. Chem. |volume=274 |issue= 33 |pages= 22915–8 |year= 1999 |pmid= 10438455 |doi=
*cite journal | author=Kresse H, Rosthøj S, Quentin E, "et al." |title=Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid. |journal=Am. J. Hum. Genet. |volume=41 |issue= 3 |pages= 436–53 |year= 1987 |pmid= 3631078 |doi=

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