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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

XYLT1 Gene

protein-coding   GIFtS: 59
GCID: GC16M017196

xylosyltransferase I
 Explore 13 diseases affiliated with
XYLT1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for XYLT1    

Aliases
for XYLT1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Xylosyltransferase I1 2 3     XYLTI2
XT-I1 2 3     Beta-D-Xylosyltransferase 12
XT12 3 5     O-Xylosyltransferase 12
PXYLT11 2     XylT-I3
Peptide O-Xylosyltransferase 12 3     Xylosyltransferase 12
EC 2.4.2.263 8     Xylosyltransferase Iota2
XTI2     XylT-I3

External Ids:    HGNC: 155161   Entrez Gene: 641312   Ensembl: ENSG000001034897   OMIM: 6081245   UniProtKB: Q86Y383   

Export aliases for XYLT1 gene to outside databases

Previous GC identifers: GC16P017598 GC16P016874 GC16M017128 GC16M017167 GC16M017108 GC16M017103 GC16M016198


Summaries
for XYLT1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for XYLT1:
This locus encodes a xylosyltransferase enzyme. The encoded protein catalyzes transfer of UDP-xylose to serine residues
of an acceptor protein substrate. This transfer reaction is necessary for biosynthesis of glycosaminoglycan chains.
Mutations in this gene have been associated with increased severity of pseudoxanthoma elasticum.(provided by RefSeq,
Nov 2009)

UniProtKB/Swiss-Prot: XYLT1_HUMAN, Q86Y38
Function: Catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to
specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan
sulfate proteoglycans in fibroblasts and chondrocytes

Gene Wiki entry for XYLT1


Genomic Views
for XYLT1 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the XYLT1 gene promoter:
         MEF-2   Olf-1   GATA-1   FOXL1   MEF-2A   S8   HSF2   aMEF-2   Hlf   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: XYLT1 promoter sequence
   Search SABiosciences Chromatin IP Primers for XYLT1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat XYLT1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 16p12.3   Ensembl cytogenetic band:  16p12.3   HGNC cytogenetic band: 16p12

XYLT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
XYLT1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M017196:  view genomic region     (about GC identifiers)

Start:
 17,195,626 bp from pter      End:
 17,564,738 bp from pter
Size:
 369,113 bases      Orientation:
 minus strand

Proteins
for XYLT1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: XYLT1_HUMAN, Q86Y38 (See protein sequence)
Recommended Name: Xylosyltransferase 1  
Size: 959 amino acids; 107569 Da
Cofactor: Divalent cations
Subunit: Monomer
Subcellular location: Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity). Golgi
apparatus membrane; Single-pass type II membrane protein (By similarity). Secreted (Probable). Note=Some fraction is
also found in the extracellular space together with chondroitin sulfate proteoglycans, suggesting that it can be
secreted
Miscellaneous: Activity is strongly reduced in seminal plasma of unfertile men
Secondary accessions: Q9H1B6

Explore the universe of human proteins at neXtProt for XYLT1: NX_Q86Y38

Post-translational modifications:

  • Contains 7 disulfide bonds1
  • N-glycosylated1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86Y38

    • 4/26 DME Specific Peptides for XYLT1 (Q86Y38) (see all 26)
     FFARKFE  VDGGSDW  YMEQSFQ  RSNYLHR 

    XYLT1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_071449.1  
    ENSEMBL proteins: 
     ENSP00000261381  

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    Uscn Proteins for XYLT1

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005576extracellular region IEA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral to membrane IEA--


    XYLT1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for XYLT1

    Protein Domains /
    Families
    for XYLT1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    XYLT1 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR024448 XylT
     IPR003406 Glyco_trans_14

    Graphical View of Domain Structure for InterPro Entry Q86Y38

    ProtoNet protein and cluster: Q86Y38

    1 Blocks protein family: IPB003406 Glycosyl transferase

    UniProtKB/Swiss-Prot: XYLT1_HUMAN, Q86Y38
    Similarity: Belongs to the glycosyltransferase 14 family. XylT subfamily


    Function
    for XYLT1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: XYLT1_HUMAN, Q86Y38
    Function: Catalyzes the first step in biosynthesis of glycosaminoglycan. Transfers D-xylose from UDP-D-xylose to
    specific serine residues of the core protein. Initial enzyme in the biosynthesis of chondroitin sulfate and dermatan
    sulfate proteoglycans in fibroblasts and chondrocytes
    Catalytic activity: Transfers a beta-D-xylosyl residue from UDP-D-xylose to the serine hydroxy group of an acceptor
    protein substrate
    Biophysicochemical properties: Kinetic parameters: KM=0.9 uM for recombinant bikunin; Vmax=764 pmol/h/mg enzyme with
    recombinant bikunin as substrate;

    Enzyme Number (IUBMB): EC 2.4.2.261 2

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    hsa-miR-579 hsa-miR-520f hsa-miR-106a hsa-miR-4305 hsa-miR-3074-3p hsa-miR-3921 hsa-miR-298 hsa-miR-3170
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    Gene Editing
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008375acetylglucosaminyltransferase activity IEA--
    GO:0030158protein xylosyltransferase activity TAS11099377


    XYLT1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for XYLT1:
     Increased gamma-H2AX phosphory 


    Pathways & Interactions
    for XYLT1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1dermatan sulfate biosynthesis
    		dermatan sulfate biosynthesis1.00
    		chondroitin sulfate biosynthesis0.64
    		Glycosaminoglycan biosynthesis - chondroitin sulfate0.73
    		glycoaminoglycan-protein linkage region biosynthesis0.38
    2heparan sulfate biosynthesis
    		heparan sulfate biosynthesis1.00
    		Glycosaminoglycan biosynthesis - heparan sulfate0.83
    3Metabolism
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4 BioSystems Pathways for XYLT1 
        glycoaminoglycan-protein linkage region biosynthesis
    heparan sulfate biosynthesis
    dermatan sulfate biosynthesis
    chondroitin sulfate biosynthesis


    3         Kegg Pathways  (Kegg details for XYLT1):
        Glycosaminoglycan biosynthesis - chondroitin sulfate
    Glycosaminoglycan biosynthesis - heparan sulfate
    Metabolic pathways

    UniProtKB/Swiss-Prot: XYLT1_HUMAN, Q86Y38
    Pathway: Glycan metabolism; chondroitin sulfate biosynthesis
    Pathway: Glycan metabolism; heparan sulfate biosynthesis


    XYLT1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for XYLT1

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    2 Interacting proteins for XYLT1 (Q86Y383 ENSP000002613814) via UniProtKB, MINT, STRING, and/or I2D

    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYCP011063, ENSP000003672074I2D: score=1 STRING: ENSP00000367207
    B4GALT7ENSP000000294104STRING: ENSP00000029410
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006024glycosaminoglycan biosynthetic process TAS11099377
    GO:0015012heparan sulfate proteoglycan biosynthetic process IEA--
    GO:0030166proteoglycan biosynthetic process ----
    GO:0030206chondroitin sulfate biosynthetic process IEA--
    GO:0034605cellular response to heat IEA--


    XYLT1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for XYLT1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    XYLT1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for XYLT1

    2 HMDB Compounds for XYLT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    DermatanChondroitin sulfate B (see all 13)24967-94-0--
    UDP-D-XyloseUDP-D-xylose (see all 7)3616-06-6--
    10 Novoseek chemical compound relationships for XYLT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    udpxylose 92.4 8 16569644 (1), 11099377 (1), 17437056 (1), 14680799 (1) (see all 6)
    glycosaminoglycan 82.6 35 17189265 (2), 17635914 (2), 15607938 (1), 18294457 (1) (see all 16)
    xylose 77.3 12 16376579 (1), 16569644 (1), 11099377 (1), 17189265 (1) (see all 9)
    chondroitin 72.5 1 17597120 (1)
    tetrasaccharide 54.8 2 17189265 (1)
    chondroitin sulfate 54.8 3 17189265 (1), 17597120 (1), 16778156 (1)
    heparan sulfate 51.3 2 17189265 (1), 16778156 (1)
    serine 46.3 9 16376579 (1), 16569644 (1), 11099377 (1), 17437056 (1) (see all 6)
    dermatan sulfate 46 1 16778156 (1)
    heparin 40.2 6 16225459 (2), 15936726 (2), 15294915 (1)

    Search CenterWatch for drugs/clinical trials and news about XYLT1 

    Transcripts
    for XYLT1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for XYLT1 gene: 
    NM_022166.3  

    Unigene Cluster for XYLT1:

    Xylosyltransferase I
    Hs.22907  [show with all ESTs]
    Unigene Representative Sequence: NM_022166
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261381(uc002dfa.3) ENST00000575674 ENST00000568226 ENST00000563403


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    hsa-miR-579 hsa-miR-520f hsa-miR-106a hsa-miR-4305 hsa-miR-3074-3p hsa-miR-3921 hsa-miR-298 hsa-miR-3170
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AJ277441.1 AJ539163.1 AK000198.1 AL050125.1 BC036692.2 BC045778.1 BX647541.1 

    4 DOTS entries:

    DT.100000180  DT.40117559  DT.92416000  DT.40117558 

    8 AceView cDNA sequences:

    AW103848 BU620961 AA872053 BF516337 BX102244 AW009370 AA504612 AW377833 

    GeneLoc Exon Structure


    Expression
    for XYLT1 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    XYLT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    XYLT1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 7 LifeMap Cells 
    NameCategory
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    PureStem™ progenitor T36 (Embryonic Progenitor Cell)
    PureStem™ progenitor U31 (Embryonic Progenitor Cell)
    TGF?3+BMP7-induced chondrocytes (Chondrogenic HyStem+...)
    HyStem+TGF?3+GDF5-induced 4D20.8 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+BMP4-induced 4D20.8 cells (Chondrogenic inducti...)Bone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See XYLT1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for XYLT1

    SOURCE GeneReport for Unigene cluster: Hs.22907

    UniProtKB/Swiss-Prot: XYLT1_HUMAN, Q86Y38
    Tissue specificity: Widely expressed. Expressed at higher level in placenta, kidney and pancreas. Weakly expressed in
    skeletal muscle

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    In Situ
    Assay Products:     
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    Orthologs
    for XYLT1 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for XYLT1 gene from 9/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Xylt11 , 5 xylosyltransferase 11, 5 87.49(n)1
    92.22(a)1    		   7 (62.93 cM)5
    2337811  NM_175645.31  NP_783576.21 
     1173809795 
    chicken
    (Gallus gallus)    		 Aves XYLT11 xylosyltransferase I 74.19(n)
    79.74(a)    		   414781  XM_414904.3  XP_414904.2 
    lizard
    (Anolis carolinensis)    		 Reptilia XYLT16
    		 --
    		 50(a)
    		 1 ↔ 1
    		 GL343580.1(485125-523731)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.172132 Xenopus laevis transcribed sequence with moderate similarity to protein refNP_071450.1 (H.sapiens) xylosyltransferase II; protein xylosyltransferase; UDP-D-xyloseproteoglycan core protein beta-D-xylosyltransferase [Homo sapiens] less 77.13(n)    BX848571.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii xylt11 xylosyltransferase I 68.03(n)
    69.13(a)    		   560951  NM_001172397.1  NP_001165868.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta oxt1 , 3 chondroitin sulfate biosynthesis
    beta-1,3-galactosyl-O-glycosyl-glycoprotein
    beta-1,6-N-acetylglucosaminyltransferase less3
    peptide O-xylosyltransferase1    		 41(a)3
    52.97(n)1
    43.15(a)1    		   62D43
    382881  NM_139448.31  NP_647705.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea Y50D4C.43   -- 39(a)   V(951435-958868)   --
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT4G274806
    AT5G150506
    (see all 11)    		 Core-2/I-branching beta-1,6-N-acetylglucosaminyltr...
    Core-2/I-branching beta-1,6-N-acetylglucosaminyltr...
    (see all 11)    		 21(a)
    21(a)
    (see all 11)    		 many ↔ many
    many ↔ many
    (see all 11)    		 4(13736835-13738975)
    5(4871639-4873598)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 12)    		 xylosyltransferase, putative, expressed
    N-acetylglucosaminyltransferase, putative, express...
    (see all 12)    		 21(a)
    21(a)
    (see all 12)    		 many ↔ many
    many ↔ many
    (see all 12)    		 1(1231473-1235942)
    3(9381861-9386375)


    ENSEMBL Gene Tree for XYLT1 (if available)
    TreeFam Gene Tree for XYLT1 (if available) 

    Paralogs
    for XYLT1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for XYLT1 gene
    GCNT12  XYLT22  GCNT22  GCNT42  GCNT62  GCNT72  GCNT32  
    1 SIMAP similar gene for XYLT1 using alignment to 1 protein entry:     XYLT1_HUMAN:
    XYLT2

    XYLT1 for paralogs           About GeneDecksing



    Genomic Variants
    for XYLT1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/7131 NCBI SNPs in XYLT1 are shown (see all 7131)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs617583881,2
    		C,pathogenic17564311(-) GGGGGG/TCACTG 2 A S mis10--------
    rs121030781,2
    		C,F,H,--16198388(+) GAGAAT/GATGAG 1 -- ds500114Minor allele frequency- G:0.03NS EA NA WA 1834
    rs735261191,2
    		C,--16198404(+) GTAAAG/AATGCA 1 -- ds50011Minor allele frequency- A:0.50WA 2
    rs14724281,2
    		--16198760(-) TCAAAC/GTTCCA 1 -- ut310--------
    rs1129204691,2
    		C--16198890(+) NNNNTC/TTTTTT 1 -- ut310--------
    rs1115763201,2
    		C,--16199502(+) GCCCAT/CAGGAA 1 -- ut312Minor allele frequency- C:0.13CSA WA 119
    rs71880451,2
    		C,F,H,--16199535(+) AAGACG/AACATT 1 -- ut317Minor allele frequency- A:0.12NS EA WA CSA 542
    rs785219191,2
    		--16199627(+) TGTCTA/TCTCTG 1 -- ut310--------
    rs14724271,2
    		C,F,H,--16199920(-) CCAGGC/TGTATG 1 -- ut3116Minor allele frequency- T:0.10MN NA NS EA WA CSA 1542
    rs133375551,2
    		C,F,H,--16200065(+) CTTCTA/Gagaga 1 -- ut316Minor allele frequency- G:0.04NS EA WA 656

    HapMap Linkage Disequilibrium report for XYLT1 (17195626 - 17445626 bp, first 250kb of XYLT1)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for XYLT1
         3 CNVs: 8814 3112 77214
    Human Gene Mutation Database (HGMD): XYLT1

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    Disorders / Diseases
    for XYLT1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    XYLT1 for disorders           About GeneDecksing

    OMIM gene information: 608124   
    OMIM disorders: 264800  
    13 diseases for XYLT1:    About MalaCards
    pseudoxanthoma elasticum, modifier of severity of    abdominal aortic aneurysm    aortic aneurysm    adenoid cystic carcinoma
    adenoiditis    essential hypertension    nephropathy    choriocarcinoma
    hypertension    osteoarthritis    infertility    fibrosis
    carcinoma

    1 disease from the University of Copenhagen DISEASES database for XYLT1:
    Pseudoxanthoma elasticum

    3 Novoseek disease relationships for XYLT1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudoxanthoma elasticum 69.6 2 16571645 (1), 16133423 (1)
    diabetic nephropathies 44.1 3 17003309 (3)
    sclerosis systemic 39.7 1 15820781 (1)

    Genetic Association Database (GAD): XYLT1
    Human Genome Epidemiology (HuGE) Navigator: XYLT1 (7 documents)

    Export disorders for XYLT1 gene to outside databases

    Publications
    for XYLT1 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for XYLT1 gene, integrated from 9 sources (see all 50):
    (articles sorted by number of sources associating them with XYLT1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and expression of human UDP-D-xylose:proteoglycan core protein beta-D-xylosyltransferase and its first isoform XT-II. (PubMed id 11099377)1, 2, 3, 9 Goetting C.... Kleesiek K. (2000)
    2. Human xylosyltransferase I: functional and biochemical characterization of cysteine residues required for enzymic activity. (PubMed id 15461586)1, 2, 9 Mueller S.... Kleesiek K. (2005)
    3. Analysis of the DXD motifs in human xylosyltransferase I required for enzyme activity. (PubMed id 15294915)1, 2, 9 Goetting C.... Kleesiek K. (2004)
    4. Impact of polymorphisms in the genes encoding xylosyltransferase I and a homologue in type 1 diabetic patients with and without nephropathy. (PubMed id 16164625)1, 4, 9 Schon S....Gotting C. (2005)
    5. Xylosyltransferase activity in seminal plasma of infertile men. (PubMed id 11814476)1, 2 Goetting C.... Kleesiek K. (2002)
    6. First isolation of human UDP-D-xylose: proteoglycan core protein beta-D-xylosyltransferase secreted from cultured JAR choriocarcinoma cells. (PubMed id 11087729)1, 2 Kuhn J....Kleesiek K. (2001)
    7. Serum xylosyltransferase: a new biochemical marker of the sclerotic process in systemic sclerosis. (PubMed id 10383739)1, 2 Goetting C.... Kleesiek K. (1999)
    8. Transforming growth factor beta1-regulated xylosyltransferase I activity in human cardiac fibroblasts and its impact for myocardial remodeling. (PubMed id 17635914)1, 9 Prante C....Gotting C. (2007)
    9. Cloning and recombinant expression of active full-length xylosyltransferase I (XT-I) and characterization of subcellular localization of XT-I and XT-II. (PubMed id 16569644)1, 9 Schon S....Gotting C. (2006)
    10. Elevated xylosyltransferase I activities in pseudoxanthoma elasticum (PXE) patients as a marker of stimulated proteoglycan biosynthesis. (PubMed id 16133423)1, 9 Gotting C....Kleesiek K. (2005)

    External Searches for XYLT1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing XYLT1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64131 HGNC: 15516 AceView: XYLT1.1 Ensembl:ENSG00000103489 euGenes: HUgn64131
    ECgene: XYLT1 Kegg: 64131 H-InvDB: XYLT1

    Other Databases showing XYLT1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing XYLT1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for XYLT1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=XYLT1

    Intellectual Property
    for XYLT1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for XYLT1 gene:
    Search GeneIP for patents involving XYLT1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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