B4GALT7: Difference between revisions
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{{ | '''Beta-1,4-galactosyltransferase 7''' also known as '''galactosyltransferase I''' is an [[enzyme]] that in humans is encoded by the ''B4GALT7'' [[gene]].<ref name="pmid10438455">{{cite journal | vauthors = 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 |date=Sep 1999 | pmid = 10438455 | pmc = | doi =10.1074/jbc.274.33.22915 }}</ref><ref name="pmid10438455" /><ref name="pmid10473568">{{cite journal | vauthors = Almeida R, Levery SB, Mandel U, Kresse H, Schwientek T, Bennett EP, Clausen H | 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 |date=Oct 1999 | pmid = 10473568 | pmc = | doi =10.1074/jbc.274.37.26165 }}</ref><ref name="pmid10473568" /><ref name="entrez">{{cite web | title = Entrez Gene: B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=11285| accessdate = }}</ref> Galactosyltransferase I [[enzyme catalysis|catalyzes]] the synthesis of the [[glycosaminoglycan]]-protein linkage in [[proteoglycan]]s.<ref name="pmid10506123">{{cite journal | vauthors = 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 |date=October 1999 | pmid = 10506123 | doi = 10.1074/jbc.274.41.28841 | url = }}</ref> Proteoglycans in turn are structural components of the [[extracellular matrix]] that is found between cells in [[connective tissue]]s. | ||
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| | ==Function== | ||
| | Galactosyltransferase I is one of seven β-1,4-[[galactosyltransferase]] (β4GalT) enzymes. These enzymes are type II membrane-bound [[glycoprotein]]s 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 [[Transmembrane protein#Types|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.<ref name="entrez"/> | ||
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==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]].<ref name="pmid10473568"/><ref name="pmid10506123"/><ref name="pmid2106134">{{cite journal | vauthors = Quentin E, Gladen A, Rodén L, Kresse H | title = A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome. | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 87 | issue = 4 | pages = 1342–6 |date=Aug 1990 | pmid = 2106134 | pmc=53471 | doi=10.1073/pnas.87.4.1342}}</ref><ref name="pmid12417421">{{cite journal | vauthors = Furukawa K, Okajima T | title = Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations | journal = Biochim. Biophys. Acta | volume = 1573 | issue = 3 | pages = 377–81 |date=December 2002 | pmid = 12417421 | doi = 10.1016/S0304-4165(02)00406-3| url = }}</ref> 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 {{SWL|type=mutation_results_in|target=Larsen syndrome|label=Larsen syndrome}}.{{Cite journal | |||
| pmid = 24755949 | |||
| | | year = 2014 | ||
| | | author1 = Cartault | ||
| first1 = F | |||
| title = Expanding the clinical spectrum of B4GALT7 deficiency: Homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome | |||
| journal = European Journal of Human Genetics | |||
| last2 = Munier | |||
| first2 = P | |||
| last3 = Jacquemont | |||
| first3 = M. L. | |||
| last4 = Vellayoudom | |||
| first4 = J | |||
| last5 = Doray | |||
| first5 = B | |||
| last6 = Payet | |||
| first6 = C | |||
| last7 = Randrianaivo | |||
| first7 = H | |||
| last8 = Laville | |||
| first8 = J. M. | |||
| last9 = Munnich | |||
| first9 = A | |||
| last10 = Cormier-Daire | |||
| first10 = V | |||
| doi = 10.1038/ejhg.2014.60 | |||
| volume=23 | |||
| pages=49–53 | |||
}} | }} | ||
==References== | ==References== | ||
{{ | {{Reflist}} | ||
==External links== | |||
* {{UCSC gene info|B4GALT7}} | |||
==Further reading== | ==Further reading== | ||
{{ | {{Refbegin| 2}} | ||
{{PBB_Further_reading | {{PBB_Further_reading | ||
| citations = | | citations = | ||
*{{ | *{{Cite journal | vauthors=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= 10.1016/S0304-4165(99)00168-3}} | ||
*{{ | *{{Cite journal | vauthors=Seidler DG, Faiyaz-Ul-Haque M, Hansen U |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 |display-authors=etal}} | ||
*{{ | *{{Cite journal | vauthors=Gulberti S, Lattard V, Fondeur M |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 |display-authors=etal}} | ||
*{{ | *{{Cite journal | vauthors=Gerhard DS, Wagner L, Feingold EA |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 | pmc=528928 |display-authors=etal}} | ||
*{{ | *{{Cite journal | vauthors=Ota T, Suzuki Y, Nishikawa T |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 |display-authors=etal}} | ||
*{{ | *{{Cite journal | vauthors=Clark HF, Gurney AL, Abaya E |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 | pmc=403697 |display-authors=etal}} | ||
*{{ | *{{Cite journal | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proceedings of the National Academy of Sciences of the United States of America |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 |display-authors=etal}} | ||
*{{ | *{{Cite journal | vauthors=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=10.1159/000015578 }} | ||
*{{Cite journal | vauthors=Kresse H, Rosthøj S, Quentin E |title=Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid |journal=American Journal of Human Genetics |volume=41 |issue= 3 |pages= 436–53 |year= 1987 |pmid= 3631078 |doi= | pmc=1684193 |display-authors=etal}} | |||
*{{ | |||
}} | }} | ||
{{ | {{Refend}} | ||
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External IDs | GeneCards: [1] | ||||||
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Species | Human | Mouse | |||||
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PubMed search | n/a | n/a | |||||
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Beta-1,4-galactosyltransferase 7 also known as galactosyltransferase I is an enzyme that in humans is encoded by the B4GALT7 gene.[1][1][2][2][3] Galactosyltransferase I catalyzes the synthesis of the glycosaminoglycan-protein linkage in proteoglycans.[4] 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.[3]
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.[2][4][5][6] 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. PMID 24755949.
References
- ↑ 1.0 1.1 Okajima T, Yoshida K, Kondo T, Furukawa K (Sep 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. doi:10.1074/jbc.274.33.22915. PMID 10438455.
- ↑ 2.0 2.1 2.2 Almeida R, Levery SB, Mandel U, Kresse H, Schwientek T, Bennett EP, Clausen H (Oct 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. doi:10.1074/jbc.274.37.26165. PMID 10473568.
- ↑ 3.0 3.1 "Entrez Gene: B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I)".
- ↑ 4.0 4.1 Okajima T, Fukumoto S, Furukawa K, Urano T (October 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. doi:10.1074/jbc.274.41.28841. PMID 10506123.
- ↑ Quentin E, Gladen A, Rodén L, Kresse H (Aug 1990). "A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome". Proceedings of the National Academy of Sciences of the United States of America. 87 (4): 1342–6. doi:10.1073/pnas.87.4.1342. PMC 53471. PMID 2106134.
- ↑ Furukawa K, Okajima T (December 2002). "Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations". Biochim. Biophys. Acta. 1573 (3): 377–81. doi:10.1016/S0304-4165(02)00406-3. PMID 12417421.
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.
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