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XYLT1








XYLT1


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XYLT1
Identifiers
Aliases
XYLT1, DBQD2, PXT-I, XT1, XTI, XYLTI, xylT-I, xylosyltransferase 1
External IDs MGI: 2451073 HomoloGene: 32534 GeneCards: XYLT1


















Gene location (Human)
Chromosome 16 (human)
Chr. Chromosome 16 (human)[1]

Chromosome 16 (human)
Genomic location for XYLT1

Genomic location for XYLT1

Band 16p12.3 Start 17,101,769 bp[1]
End 17,470,881 bp[1]

































Orthologs
Species Human Mouse
Entrez


64131


233781
Ensembl


ENSG00000103489
ENSG00000285395


ENSMUSG00000030657
UniProt


Q86Y38


Q811B1
RefSeq (mRNA)


NM_022166


NM_175645
RefSeq (protein)


NP_071449


NP_783576
Location (UCSC) Chr 16: 17.1 – 17.47 Mb Chr 7: 117.38 – 117.67 Mb

PubMed search		 [3] [4]
Wikidata



View/Edit Human View/Edit Mouse

Xylosyltransferase 1 is an enzyme that in humans is encoded by the XYLT1 gene.[5][6]


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][6]



References[edit]





  1. ^ abc ENSG00000285395 GRCh38: Ensembl release 89: ENSG00000103489, ENSG00000285395 - Ensembl, May 2017


  2. ^ abc GRCm38: Ensembl release 89: ENSMUSG00000030657 - Ensembl, May 2017


  3. ^ "Human PubMed Reference:"..mw-parser-output cite.citation{font-style:inherit}.mw-parser-output q{quotes:"""""""'""'"}.mw-parser-output code.cs1-code{color:inherit;background:inherit;border:inherit;padding:inherit}.mw-parser-output .cs1-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/6/65/Lock-green.svg/9px-Lock-green.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-limited a,.mw-parser-output .cs1-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/d/d6/Lock-gray-alt-2.svg/9px-Lock-gray-alt-2.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/a/aa/Lock-red-alt-2.svg/9px-Lock-red-alt-2.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration{color:#555}.mw-parser-output .cs1-subscription span,.mw-parser-output .cs1-registration span{border-bottom:1px dotted;cursor:help}.mw-parser-output .cs1-hidden-error{display:none;font-size:100%}.mw-parser-output .cs1-visible-error{font-size:100%}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration,.mw-parser-output .cs1-format{font-size:95%}.mw-parser-output .cs1-kern-left,.mw-parser-output .cs1-kern-wl-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right,.mw-parser-output .cs1-kern-wl-right{padding-right:0.2em}


  4. ^ "Mouse PubMed Reference:".


  5. ^ Gotting C, Kuhn J, Zahn R, Brinkmann T, Kleesiek K (Jan 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.


  6. ^ ab "Entrez Gene: XYLT1 xylosyltransferase I".




Further reading[edit]


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  • 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.


  • 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.


  • 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.


  • 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.


  • 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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