XYLT2
| Xylosyltransferase II | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||
| Symbols | XYLT2 ; PXYLT2; SOS; XT-II; XT2; xylT-II | ||||||||||||
| External IDs | OMIM: 608125 MGI: 2444797 HomoloGene: 23349 GeneCards: XYLT2 Gene | ||||||||||||
| EC number | 2.4.2.26 | ||||||||||||
| |||||||||||||
| RNA expression pattern | |||||||||||||
 | |||||||||||||
| More reference expression data | |||||||||||||
| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 64132 | 217119 | |||||||||||
| Ensembl | ENSG00000015532 | ENSMUSG00000020868 | |||||||||||
| UniProt | Q9H1B5 | Q9EPL0 | |||||||||||
| RefSeq (mRNA) | NM_022167 | NM_145828 | |||||||||||
| RefSeq (protein) | NP_071450 | NP_665827 | |||||||||||
| Location (UCSC) |
Chr 17: 50.35 – 50.36 Mb |
Chr 11: 94.66 – 94.68 Mb | |||||||||||
| PubMed search | |||||||||||||
Xylosyltransferase 2 is an enzyme that in humans is encoded by the XYLT2 gene.[1][2]
The protein encoded by this gene is an isoform of xylosyltransferase, which belongs to a family of glycosyltransferases. This enzyme transfers xylose from UDP-xylose to specific serine residues of the core protein and initiates the biosynthesis of glycosaminoglycan chains in proteoglycans including chondroitin sulfate, heparan sulfate, heparin and dermatan sulfate. The enzyme activity, which is increased in scleroderma patients, is a diagnostic marker for the determination of sclerotic activity in systemic sclerosis.[2]
References
- ↑ 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.
- 1 2 "Entrez Gene: XYLT2 xylosyltransferase II".
Further reading
- Götting C, Kuhn J, Brinkmann T, Kleesiek K (1998). "Xylosylation of alternatively spliced isoforms of Alzheimer APP by xylosyltransferase.". J. Protein Chem. 17 (3): 295–302. doi:10.1023/A:1022549121672. PMID 9588955.
- 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.
- 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.
- 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.
- 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.
- 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.
- Voglmeir J, Voglauer R, Wilson IB (2007). "XT-II, the second isoform of human peptide-O-xylosyltransferase, displays enzymatic activity". J. Biol. Chem. 282 (9): 5984–90. doi:10.1074/jbc.M608087200. PMC 2850172. PMID 17194707.
This article is issued from Wikipedia - version of the Wednesday, September 02, 2015. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.