B4GALT7
| Xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) | |||||||||||
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| Symbols | B4GALT7 ; B4GAL-T7; XGALT-1; XGALT1; XGPT1; beta4Gal-T7 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 5248 | ||||||||||
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| Species | Human | Mouse | |||||||||
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| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
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Xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I), also known as B4GALT7, is a human gene.[1]
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.[1]
References
Further reading
- Amado M, Almeida R, Schwientek T, Clausen H (2000). "Identification and characterization of large galactosyltransferase gene families: galactosyltransferases for all functions". Biochim. Biophys. Acta. 1473 (1): 35–53. PMID 10580128.
- Seidler DG, Faiyaz-Ul-Haque M, Hansen U; et al. (2007). "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)". J. Mol. Med. 84 (7): 583–94. doi:10.1007/s00109-006-0046-4. PMID 16583246.
- Gulberti S, Lattard V, Fondeur M; et al. (2005). "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". J. Biol. Chem. 280 (2): 1417–25. doi:10.1074/jbc.M411552200. PMID 15522873.
- Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Clark HF, Gurney AL, Abaya E; et al. (2003). "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMID 12975309.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Kuroiwa A, Matsuda Y, Okajima T, Furukawa K (2000). "Assignment of human xylosylprotein beta-1,4-galactosyltransferase gene (B4GALT7) to human chromosome 5q35.2-->q35.3 by in situ hybridization". Cytogenet. Cell Genet. 89 (1–2): 8–9. PMID 10894925.
- Okajima T, Fukumoto S, Furukawa K, Urano T (1999). "Molecular basis for the progeroid variant of Ehlers-Danlos syndrome. Identification and characterization of two mutations in galactosyltransferase I gene". J. Biol. Chem. 274 (41): 28841–4. PMID 10506123.
- Almeida R, Levery SB, Mandel U; et al. (1999). "Cloning and expression of a proteoglycan UDP-galactose:beta-xylose beta1,4-galactosyltransferase I. A seventh member of the human beta4-galactosyltransferase gene family". J. Biol. Chem. 274 (37): 26165–71. PMID 10473568.
- Okajima T, Yoshida K, Kondo T, Furukawa K (1999). "Human homolog of Caenorhabditis elegans sqv-3 gene is galactosyltransferase I involved in the biosynthesis of the glycosaminoglycan-protein linkage region of proteoglycans". J. Biol. Chem. 274 (33): 22915–8. PMID 10438455.
- Kresse H, Rosthøj S, Quentin E; et al. (1987). "Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid". Am. J. Hum. Genet. 41 (3): 436–53. PMID 3631078.
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