B4GALT7

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Beta-1,4-galactosyltransferase 7 also known as galactosyltransferase I is an enzyme that in humans is encoded by the B4GALT7 gene. Galactosyltransferase I catalyzes the synthesis of the glycosaminoglycan-protein linkage in proteoglycans. Proteoglycans in turn are structural components of the extracellular matrix that is found between cells in connective tissues.

Function

Galactosyltransferase I is one of seven β-1,4-galactosyltransferase (β4GalT) enzymes. These enzymes are type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a β-1,4 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: β4GalT1 and β4GalT2, β4GalT3 and β4GalT4, β4GalT5 and β4GalT6, and β4GalT7. The enzyme encoded by this gene attaches the first galactose in the common carbohydrate-protein (GlcA-β-1,3-Gal-β-1,3-Gal-β-1,4-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 β4GalT1-β4GalT6 Cys residues and it is located in cis-Golgi instead of trans-Golgi.

Clinical significance

Mutations in the B4GALT7 gene that result in a defective galactosyltransferase I enzyme with reduced or absent activity are associated with progeroid type Ehlers-Danlos syndrome. Since mutations in B4GALT7 impair a glycosylation pathway, the resulting subtype of Ehlers-Danlos syndrome may be considered a congenital disorder of glycosylation (CDG), according to the new CDG nomenclature.

Mutations in B4GALT7 cause Larsen syndrome .Cartault, F; Munier, P; Jacquemont, M. L.; Vellayoudom, J; Doray, B; Payet, C; Randrianaivo, H; Laville, J. M.; Munnich, A; Cormier-Daire, V (2014). "Expanding the clinical spectrum of B4GALT7 deficiency: Homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome". European Journal of Human Genetics. 23: 49–53. doi:10.1038/ejhg.2014.60. PMC 4266744. PMID 24755949.

External links

• Human B4GALT7 genome location and B4GALT7 gene details page in the UCSC Genome Browser.

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. doi:10.1016/S0304-4165(99)00168-3. 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. PMC 528928. 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. PMC 403697. 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". Proceedings of the National Academy of Sciences of the United States of America. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. 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. doi:10.1159/000015578. PMID 10894925.
• 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". American Journal of Human Genetics. 41 (3): 436–53. PMC 1684193. PMID 3631078.