Property Summary

NCBI Gene PubMed Count 34
PubMed Score 122.11
PubTator Score 50.36

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Disease log2 FC p
malignant mesothelioma -6.700 1.2e-08
astrocytic glioma -1.200 2.7e-02
posterior fossa group A ependymoma -1.900 1.6e-07
cystic fibrosis 2.655 4.3e-07
atypical teratoid / rhabdoid tumor -2.000 1.7e-03
medulloblastoma, large-cell -2.400 8.1e-04
intraductal papillary-mucinous neoplasm ... 1.500 2.2e-02
pilocytic astrocytoma 1.200 5.0e-04
Breast cancer -1.200 2.7e-04
invasive ductal carcinoma -1.100 4.9e-02
ovarian cancer 1.200 1.2e-02
pituitary cancer 2.000 4.3e-04

Gene RIF (31)

PMID Text
26601923 XYLT1 mutation is associated with short limb skeletal dysplasia.
25480529 Human XYLT1 promoter sequence analysis and description.
25476526 These results suggest that XT-1 expression is refractory to the disease process and to inhibition by inflammatory cytokines and that signaling through AP-1, Sp1, and Sp3 is important in the maintenance of XT-1 levels in NP cells.
24581741 five distinct homozygous XYLT1 mutations may have a role in Desbuquois dysplasia type 2
23982343 A family study shows that functional alterations of XYLT1 cause an autosomal recessive short stature syndrome associated with intellectual disability.
23747722 XYLT1 activity increased time-dependently in response to progressive myofibroblast transformation.
23333304 HIV-1 Vif modulates the expression of xylosyltransferase I (XYLT1) in Vif-expression T cells
23223231 AP-1 and Sp3 are key regulators of IL-1beta-mediated modulation of xylosyltransferase I expression.
22479506 Xylosyltransferase-I regulates glycosaminoglycan synthesis during the pathogenic process of human osteoarthritis
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19762916 AP-1 Sp1 family of transcription factors are necessary for the transcriptional regulation of the XYLT1 gene.
19197251 No statistically significant association was found between four XYLT variants and hypertension or blood pressure, suggesting that they do not play a significant role in the development of essential hypertension.
19197251 Observational study of gene-disease association. (HuGE Navigator)
19014925 Data show that the xylosyltransferase I SNP is associated with a decreased glycosaminoglycan amount in the serum of healthy blood donors.
19014925 Observational study of gene-disease association. (HuGE Navigator)
18763033 These results point to skeletal growth and tissue remodeling as a cause of the high XT activity in children
18294457 results show that XT-I polymorphisms potentially confer to the genetic susceptibility of abdominal aortic aneurysm
18294457 Observational study of gene-disease association. (HuGE Navigator)
17980567 For the rate-limiting enzyme in glycosaminoglycan synthesis XT-I, maximal mRNA expression and enzyme activity were observed 10 days after osteogenic induction of mesenchymal stem cells, simultaneously to the beginning of ECM mineralization.
17635914 TGF-beta(1) and mechanical stress induce xylosyltransferase I expression in cardiac fibroblasts and have impact for ECM remodeling in the dilated heart.
17003309 Observational study of gene-disease association. (HuGE Navigator)
17003309 The XYLT-I c.343G>T polymorphism contributes to the genetic susceptibility to development of diabetic nephropathy in type 1 diabetic patients.
16778156 Increased levels of xylosyltransferase I correlates with the formation of extracellular matrix during chondrogenic differentiation of mesenchymal stem cells.
16759312 Observational study of gene-disease association. (HuGE Navigator)
16571645 Variations in the XYLT-II gene are genetic co-factors in the severity of PXE.
16569644 recombinant expression and cloning of active full-length xylosyltransferase I (XT-I) and characterization of subcellular localization of XT-I and XT-II
16225459 Over 80% of the nucleotide sequence of the XT-I-cDNA is necessary for expressing a recombinant enzyme with full catalytic activity.
16164625 Observational study of gene-disease association. (HuGE Navigator)
16164625 xylotransferase genes might be potential candidate genes predisposing to diabetic nephropathy in type 1 diabetic patients
16133423 Elevated XYLT1 activities in pseudoxanthoma elasticum patients is a marker of proteoglycan biosynthesis.
15294915 DXD motifs in human xylosyltransferase I are required for enzyme activity

AA Sequence

MVAAPCARRLARRSHSALLAALTVLLLQTLVVWNFSSLDSGAGERRGGAAVGGGEQPPPAPAPRRERRDL      1 - 70
PAEPAAARGGGGGGGGGGGGRGPQARARGGGPGEPRGQQPASRGALPARALDPHPSPLITLETQDGYFSH     71 - 140
RPKEKVRTDSNNENSVPKDFENVDNSNFAPRTQKQKHQPELAKKPPSRQKELLKRKLEQQEKGKGHTFPG    141 - 210
KGPGEVLPPGDRAAANSSHGKDVSRPPHARKTGGSSPETKYDQPPKCDISGKEAISALSRAKSKHCRQEI    211 - 280
GETYCRHKLGLLMPEKVTRFCPLEGKANKNVQWDEDSVEYMPANPVRIAFVLVVHGRASRQLQRMFKAIY    281 - 350
HKDHFYYIHVDKRSNYLHRQVLQVSRQYSNVRVTPWRMATIWGGASLLSTYLQSMRDLLEMTDWPWDFFI    351 - 420
NLSAADYPIRTNDQLVAFLSRYRDMNFLKSHGRDNARFIRKQGLDRLFLECDAHMWRLGDRRIPEGIAVD    421 - 490
GGSDWFLLNRRFVEYVTFSTDDLVTKMKQFYSYTLLPAESFFHTVLENSPHCDTMVDNNLRITNWNRKLG    491 - 560
CKCQYKHIVDWCGCSPNDFKPQDFHRFQQTARPTFFARKFEAVVNQEIIGQLDYYLYGNYPAGTPGLRSY    561 - 630
WENVYDEPDGIHSLSDVTLTLYHSFARLGLRRAETSLHTDGENSCRYYPMGHPASVHLYFLADRFQGFLI    631 - 700
KHHATNLAVSKLETLETWVMPKKVFKIASPPSDFGRLQFSEVGTDWDAKERLFRNFGGLLGPMDEPVGMQ    701 - 770
KWGKGPNVTVTVIWVDPVNVIAATYDILIESTAEFTHYKPPLNLPLRPGVWTVKILHHWVPVAETKFLVA    771 - 840
PLTFSNRQPIKPEEALKLHNGPLRNAYMEQSFQSLNPVLSLPINPAQVEQARRNAASTGTALEGWLDSLV    841 - 910
GGMWTAMDICATGPTACPVMQTCSQTAWSSFSPDPKSELGAVKPDGRLR                         911 - 959
//

Text Mined References (34)

PMID Year Title
26601923 2016 Complete and partial XYLT1 deletion in a patient with neonatal short limb skeletal dysplasia.
25480529 2014 First description of the complete human xylosyltransferase-I promoter region.
25476526 2015 Xylosyltransferase-1 expression is refractory to inhibition by the inflammatory cytokines tumor necrosis factor ? and IL-1? in nucleus pulposus cells: novel regulation by AP-1, Sp1, and Sp3.
24581741 2014 XYLT1 mutations in Desbuquois dysplasia type 2.
23982343 2014 The missing "link": an autosomal recessive short stature syndrome caused by a hypofunctional XYLT1 mutation.
23747722 2013 Human xylosyltransferase-I - a new marker for myofibroblast differentiation in skin fibrosis.
23322567 2013 Identification of a candidate gene for astigmatism.
23223231 2013 Regulation of xylosyltransferase I gene expression by interleukin 1? in human primary chondrocyte cells: mechanism and impact on proteoglycan synthesis.
22479506 2012 Xylosyltransferase-I regulates glycosaminoglycan synthesis during the pathogenic process of human osteoarthritis.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19762916 2009 Identification and characterization of the human xylosyltransferase I gene promoter region.
19197251 2009 Xylosyltransferase gene variants and their role in essential hypertension.
19014925 2009 The xylosyltransferase Iota gene polymorphism c.343G>T (p.A115S) is associated with decreased serum glycosaminoglycan levels.
18763033 2009 High xylosyltransferase activity in children and during mineralization of osteoblast-like SAOS-2 cells.
18294457 2008 Xylosyltransferase I variants and their impact on abdominal aortic aneurysms.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17980567 2008 Increased levels of xylosyltransferase I correlate with the mineralization of the extracellular matrix during osteogenic differentiation of mesenchymal stem cells.
17635914 2007 Transforming growth factor beta1-regulated xylosyltransferase I activity in human cardiac fibroblasts and its impact for myocardial remodeling.
17189266 2007 Biosynthesis of chondroitin and heparan sulfate in chinese hamster ovary cells depends on xylosyltransferase II.
17003309 2006 The xylosyltransferase I gene polymorphism c.343G>T (p.A125S) is a risk factor for diabetic nephropathy in type 1 diabetes.
16778156 2006 The formation of extracellular matrix during chondrogenic differentiation of mesenchymal stem cells correlates with increased levels of xylosyltransferase I.
16759312 2006 Novel sequence variants in the human xylosyltransferase I gene and their role in diabetic nephropathy.
16571645 2006 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.
16569644 2006 Cloning and recombinant expression of active full-length xylosyltransferase I (XT-I) and characterization of subcellular localization of XT-I and XT-II.
16225459 2006 Human xylosyltransferase I and N-terminal truncated forms: functional characterization of the core enzyme.
16164625 2005 Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy.
16133423 2005 Elevated xylosyltransferase I activities in pseudoxanthoma elasticum (PXE) patients as a marker of stimulated proteoglycan biosynthesis.
15461586 2005 Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity.
15294915 2004 Analysis of the DXD motifs in human xylosyltransferase I required for enzyme activity.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11814476 2002 Xylosyltransferase activity in seminal plasma of infertile men.
11099377 2000 Molecular cloning and expression of human UDP-d-Xylose:proteoglycan core protein beta-d-xylosyltransferase and its first isoform XT-II.
11087729 2001 First isolation of human UDP-D-xylose: proteoglycan core protein beta-D-xylosyltransferase secreted from cultured JAR choriocarcinoma cells.
10383739 1999 Serum xylosyltransferase: a new biochemical marker of the sclerotic process in systemic sclerosis.