Property Summary

NCBI Gene PubMed Count 34
Grant Count 5
R01 Count 5
Funding $392,478.25
PubMed Score 122.11
PubTator Score 50.36

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (12)

Synonym

Accession Q86Y38 Q9H1B6
Symbols XT1
XTI
XT-I
DBQD2
XYLTI
PXYLT1
xylT-I

Gene

PANTHER Protein Class (2)

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)
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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
//

Publication (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.
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