XYLT1
| Xylosyltransferase I | |||||||||||
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| Identifiers | |||||||||||
| Symbols | XYLT1 ; XT-I; XT1 | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 32534 | ||||||||||
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| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| 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 | |||||||||
Xylosyltransferase I, also known as XYLT1, is a human gene.[1]
Xylosyltransferase (XT; EC 2.4.2.26) catalyzes the transfer of UDP-xylose to serine residues within XT recognition sequences of target proteins. Addition of this xylose to the core protein is required for the biosynthesis of the glycosaminoglycan chains characteristic of proteoglycans.[supplied by OMIM][1]
References
Further reading
- Götting C, Sollberg S, Kuhn J; et al. (1999). "Serum xylosyltransferase: a new biochemical marker of the sclerotic process in systemic sclerosis". J. Invest. Dermatol. 112 (6): 919–24. doi:10.1046/j.1523-1747.1999.00590.x. PMID 10383739.
- Kuhn J, Götting C, Schnölzer M; et al. (2001). "First isolation of human UDP-D-xylose: proteoglycan core protein beta-D-xylosyltransferase secreted from cultured JAR choriocarcinoma cells". J. Biol. Chem. 276 (7): 4940–7. doi:10.1074/jbc.M005111200. PMID 11087729.
- Götting C, Kuhn J, Zahn R; et al. (2001). "Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II". J. Mol. Biol. 304 (4): 517–28. doi:10.1006/jmbi.2000.4261. PMID 11099377.
- Götting C, Kuhn J, Brinkmann T, Kleesiek K (2002). "Xylosyltransferase activity in seminal plasma of infertile men". Clin. Chim. Acta. 317 (1–2): 199–202. PMID 11814476.
- 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.
- Götting C, Müller S, Schöttler M; et al. (2004). "Analysis of the DXD motifs in human xylosyltransferase I required for enzyme activity". J. Biol. Chem. 279 (41): 42566–73. doi:10.1074/jbc.M401340200. PMID 15294915.
- Müller S, Schöttler M, Schön S; et al. (2005). "Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity". Biochem. J. 386 (Pt 2): 227–36. doi:10.1042/BJ20041206. PMID 15461586.
- Götting C, Hendig D, Adam A; et al. (2006). "Elevated xylosyltransferase I activities in pseudoxanthoma elasticum (PXE) patients as a marker of stimulated proteoglycan biosynthesis". J. Mol. Med. 83 (12): 984–92. doi:10.1007/s00109-005-0693-x. PMID 16133423.
- Schön S, Prante C, Müller S; et al. (2005). "Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy". Kidney Int. 68 (4): 1483–90. doi:10.1111/j.1523-1755.2005.00561.x. PMID 16164625.
- Müller S, Disse J, Schöttler M; et al. (2006). "Human xylosyltransferase I and N-terminal truncated forms: functional characterization of the core enzyme". Biochem. J. 394 (Pt 1): 163–71. doi:10.1042/BJ20051606. PMID 16225459.
- Schön S, Prante C, Bahr C; et al. (2006). "Cloning and recombinant expression of active full-length xylosyltransferase I (XT-I) and characterization of subcellular localization of XT-I and XT-II". J. Biol. Chem. 281 (20): 14224–31. doi:10.1074/jbc.M510690200. PMID 16569644.
- Schön S, Schulz V, Prante C; et al. (2007). "Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course". J. Med. Genet. 43 (9): 745–9. doi:10.1136/jmg.2006.040972. PMID 16571645.
- Prante C, Bieback K, Funke C; et al. (2006). "The formation of extracellular matrix during chondrogenic differentiation of mesenchymal stem cells correlates with increased levels of xylosyltransferase I.". Stem Cells. 24 (10): 2252–61. doi:10.1634/stemcells.2005-0508. PMID 16778156.
- Schön S, Prante C, Bahr C; et al. (2007). "The xylosyltransferase I gene polymorphism c.343G>T (p.A125S) is a risk factor for diabetic nephropathy in type 1 diabetes". Diabetes Care. 29 (10): 2295–9. doi:10.2337/dc06-0344. PMID 17003309.
- Cuellar K, Chuong H, Hubbell SM, Hinsdale ME (2007). "Biosynthesis of chondroitin and heparan sulfate in chinese hamster ovary cells depends on xylosyltransferase II". J. Biol. Chem. 282 (8): 5195–200. doi:10.1074/jbc.M611048200. PMID 17189266.
- Prante C, Milting H, Kassner A; et al. (2007). "Transforming growth factor beta1-regulated xylosyltransferase I activity in human cardiac fibroblasts and its impact for myocardial remodeling". J. Biol. Chem. 282 (36): 26441–9. doi:10.1074/jbc.M702299200. PMID 17635914.
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