XYLT1

Xylosyltransferase I
Identifiers
Symbols	XYLT1; PXYLT1; XT-I; XT1; XTI; XYLTI
External IDs	OMIM: 608124 MGI: 2451073 HomoloGene: 32534 GeneCards: XYLT1 Gene
EC number	2.4.2.26
Gene Ontology Molecular function • acetylglucosaminyltransferase activity • transferase activity, transferring glycosyl groups • protein xylosyltransferase activity Cellular component • Golgi membrane • extracellular region • endoplasmic reticulum • endoplasmic reticulum membrane • Golgi apparatus • membrane • integral to membrane Biological process • glycosaminoglycan biosynthetic process • proteoglycan biosynthetic process • cellular response to heat • negative regulation of axon regeneration • response to interleukin-1 Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	64131	233781
Ensembl	ENSG00000103489	ENSMUSG00000030657
UniProt	Q86Y38	n/a
RefSeq (mRNA)	XM_001125986	NM_175645.3
RefSeq (protein)	XP_001125986	NP_783576.2
Location (UCSC)	Chr 16: 17.2 – 17.56 Mb	Chr 7: 124.52 – 124.81 Mb
PubMed search	[1]	[2]

Xylosyltransferase 1 is an enzyme that in humans is encoded by the XYLT1 gene.

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]

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, Brinkmann T, Kleesiek K (2002). "Xylosyltransferase activity in seminal plasma of infertile men.". Clin. Chim. Acta 317 (1-2): 199–202. doi:10.1016/S0009-8981(01)00793-8. 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. PMC 139241. PMID 12477932. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=139241. 
• 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. PMC 1134786. PMID 15461586. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1134786. 
• 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. PMC 1386014. PMID 16225459. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1386014. 
• 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. PMC 2593031. PMID 16571645. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=2593031. 
• 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.