XYLT1

XYLT1
Identifikatori
Alijasi	XYLT1
Spoljašnji ID	OMIM: 608124 MGI: 2451073 HomoloGene: 32534 GeneCards: XYLT1
Genska lokacija (miš)
Hr.	Chromosome 7 (mouse)
Kraj	117,272,803 bp
Genska ontologija
Molecular function	• protein xylosyltransferase activity; • transferase activity; • acetylglucosaminyltransferase activity; • glycosyltransferase activity; • metal ion binding;
Cellular component	• саставни део мембране; • ванћелијска област; • Голџијев апарат; • endoplasmic reticulum membrane; • ендоплазматични ретикулум; • мембрана; • Golgi membrane; • Golgi cis cisterna; • ванћелијски простор;
Biological process	• chondroitin sulfate biosynthetic process; • heparan sulfate proteoglycan biosynthetic process; • glycosaminoglycan biosynthetic process; • glycosaminoglycan metabolic process; • proteoglycan biosynthetic process; • ossification involved in bone maturation; • embryonic skeletal system development; • chondroitin sulfate proteoglycan biosynthetic process;
	Sources:Amigo / QuickGO
Ortolozi
	64131
	233781
	ENSG00000103489; ENSG00000285395
	ENSMUSG00000030657
	Q86Y38
	Q811B1
	NM_022166
	NM_175645
	NP_071449
	NP_783576
	Wikidata
View/Edit Human	View/Edit Mouse

Ksiloziltransferaza 1 je enzim koji je kod ljudi kodiran genom XYLT1.^[4]^[5]

Klinički značaj[уреди | уреди извор]

Godine 2012, Baratela-Skotov sindrom je identifikovan kod ljudi.^[6] Ekspanzija ponavljanja GGC i metilacija eksona 1 XYLT1 je uobičajena patogena varijanta kod Baratela-Skotovog sindroma.^[7]

Reference[уреди | уреди извор]

^ ^а ^б ^в GRCm38: Ensembl release 89: ENSMUSG00000030657 - Ensembl, May 2017
^ „Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ „Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Gotting C, Kuhn J, Zahn R, Brinkmann T, Kleesiek K (јануар 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. PMID 11099377. doi:10.1006/jmbi.2000.4261.
^ „Entrez Gene: XYLT1 xylosyltransferase I”.
^ Baratela, Wagner A.R.; Bober, Michael B.; Tiller, George E.; Okenfuss, Ericka; Ditro, Colleen; Duker, Angela; Krakow, Deborah; Stabley, Deborah L.; Sol-Church, Katia; Mackenzie, William; Lachman, Ralph; Scott, Charles I. (август 2012). „A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay”. American Journal of Medical Genetics Part A. 158A (8): 1815—1822. PMC 4164294 . PMID 22711505. doi:10.1002/ajmg.a.35445.
^ LaCroix, Amy J.; Stabley, Deborah; Sahraoui, Rebecca; Adam, Margaret P.; Mehaffey, Michele; Kernan, Kelly; Myers, Candace T.; Fagerstrom, Carrie; Anadiotis, George; Akkari, Yassmine M.; Robbins, Katherine M.; Gripp, Karen W.; Baratela, Wagner A.R.; Bober, Michael B.; Duker, Angela L.; Doherty, Dan; Dempsey, Jennifer C.; Miller, Daniel G.; Kircher, Martin; Bamshad, Michael J.; Nickerson, Deborah A.; Mefford, Heather C.; Sol-Church, Katia (јануар 2019). „GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome”. The American Journal of Human Genetics. 104 (1): 35—44. PMC 6323552 . PMID 30554721. doi:10.1016/j.ajhg.2018.11.005 .

Literatura[уреди | уреди извор]

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. PMID 10383739. doi:10.1046/j.1523-1747.1999.00590.x .
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. PMID 11087729. doi:10.1074/jbc.M005111200 .
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. doi:10.1016/S0009-8981(01)00793-8.
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. Bibcode:2002PNAS...9916899M. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899 .
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. PMID 15294915. doi:10.1074/jbc.M401340200 .
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. PMC 1134786 . PMID 15461586. doi:10.1042/BJ20041206.
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. PMID 16133423. S2CID 9907867. doi:10.1007/s00109-005-0693-x.
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. PMID 16164625. doi:10.1111/j.1523-1755.2005.00561.x .
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. PMC 1386014 . PMID 16225459. doi:10.1042/BJ20051606.
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. PMID 16569644. doi:10.1074/jbc.M510690200 .
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. PMC 2593031 . PMID 16571645. doi:10.1136/jmg.2006.040972.
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. PMID 16778156. S2CID 40255873. doi:10.1634/stemcells.2005-0508 .
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. PMID 17003309. doi:10.2337/dc06-0344 .
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. PMID 17189266. doi:10.1074/jbc.M611048200 .
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. PMID 17635914. doi:10.1074/jbc.M702299200 .
Grimpe B, Pressman Y, Lupa MD, Horn KP, Bunge MB, Silver J (2005). „The role of proteoglycans in Schwann cell/astrocyte interactions and in regeneration failure at PNS/CNS interfaces.”. Molecular and Cellular Neuroscience. 28 (1): 18—29. PMID 15607938. S2CID 38001196. doi:10.1016/j.mcn.2004.06.010.
Hurtado A, Podini H, Oudega M, Grimpe B (2008). „Deoxyribozyme-mediated knock down of xylosyltransferase-1 mRNA promotes axon growth in the adult rat spinal cord.”. Brain. 131 (10): 2596—605. PMID 18765417. doi:10.1093/brain/awn206 .
Koenig B, Pape D, Chao O, Bauer J, Grimpe B (2016). „Long term study of deoxyribozyme administration to XT-1 mRNA promotes cortiospinal tract regeneration and improves behavioral outcome after spinal cord injury.”. Experimental Neurology. 276: 51—58. PMID 26428904. S2CID 10575072. doi:10.1016/j.expneurol.2015.09.015.
Oudega M, Chao OY, Avison DL, Bronson RT, Buchser WJ, Hurtado A, Grimpe B (2012). „Systemic administration of a deoxyribozyme to xylosyltransferase-1 mRNA promotes recovery after a spinal cord contusion injury”. Experimental Neurology. 237 (1): 170—179. PMID 22721770. S2CID 34942901. doi:10.1016/j.expneurol.2012.06.006.

[refGRCm38Ensembl-1] а ^б ^в GRCm38: Ensembl release 89: ENSMUSG00000030657 - Ensembl, May 2017

[2] „Human PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.

[3] „Mouse PubMed Reference:”. National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11099377-4] Gotting C, Kuhn J, Zahn R, Brinkmann T, Kleesiek K (јануар 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. PMID 11099377. doi:10.1006/jmbi.2000.4261.

[entrez-5] „Entrez Gene: XYLT1 xylosyltransferase I”.

[Baratela-Scott-6] Baratela, Wagner A.R.; Bober, Michael B.; Tiller, George E.; Okenfuss, Ericka; Ditro, Colleen; Duker, Angela; Krakow, Deborah; Stabley, Deborah L.; Sol-Church, Katia; Mackenzie, William; Lachman, Ralph; Scott, Charles I. (август 2012). „A newly recognized syndrome with characteristic facial features, skeletal dysplasia, and developmental delay”. American Journal of Medical Genetics Part A. 158A (8): 1815—1822. PMC 4164294 . PMID 22711505. doi:10.1002/ajmg.a.35445.

[GCC_Repeat-7] LaCroix, Amy J.; Stabley, Deborah; Sahraoui, Rebecca; Adam, Margaret P.; Mehaffey, Michele; Kernan, Kelly; Myers, Candace T.; Fagerstrom, Carrie; Anadiotis, George; Akkari, Yassmine M.; Robbins, Katherine M.; Gripp, Karen W.; Baratela, Wagner A.R.; Bober, Michael B.; Duker, Angela L.; Doherty, Dan; Dempsey, Jennifer C.; Miller, Daniel G.; Kircher, Martin; Bamshad, Michael J.; Nickerson, Deborah A.; Mefford, Heather C.; Sol-Church, Katia (јануар 2019). „GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott Syndrome”. The American Journal of Human Genetics. 104 (1): 35—44. PMC 6323552 . PMID 30554721. doi:10.1016/j.ajhg.2018.11.005 .

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