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XYLT1 Gene

protein-coding   GIFtS: 60
GCID: GC16M017196

Xylosyltransferase I

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Xylosyltransferase I1 2 3     XYLTI2
XT12 3 5     Beta-D-Xylosyltransferase 12
Peptide O-Xylosyltransferase 12 3     O-Xylosyltransferase 12
XT-I2 3     xylT-I2
EC 2.4.2.263 8     Xylosyltransferase 12
Protein Xylosyltransferase 11     Xylosyltransferase Iota2
PXYLT12     XylT-I3
XTI2     

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


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for XYLT1 Gene:
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)

GeneCards Summary for XYLT1 Gene:
XYLT1 (xylosyltransferase I) is a protein-coding gene. Diseases associated with XYLT1 include xylt1-cdg, and pseudoxanthoma elasticum. GO annotations related to this gene include protein xylosyltransferase activity and acetylglucosaminyltransferase activity. An important paralog of this gene is GCNT1.

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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000016.10  NC_018927.2  NT_010393.17  
Regulatory elements:
   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 plasmidXYLT1 promoter sequence
   Search Chromatin IP Primers for XYLT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: XYLT1_HUMAN, Q86Y38 (See protein sequence)
Recommended Name: Xylosyltransferase 1  
Size: 959 amino acids; 107569 Da
Cofactor: Divalent cations
Subunit: Monomer
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

Explore proteomics data for XYLT1 at MOPED

Post-translational modifications: 

  • Contains 7 disulfide bonds1
  • N-glycosylated1
  • Glycosylation2 at Asn226, Asn421, Asn777
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for XYLT1 (Q86Y38) (see all 26)
     FFARKFE  VDGGSDW  YMEQSFQ  RSNYLHR 


    See XYLT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_071449.1  
    ENSEMBL proteins: 
     ENSP00000261381  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR003406 Glyco_trans_14
     IPR024448 XylT

    Graphical View of Domain Structure for InterPro Entry Q86Y38

    ProtoNet protein and cluster: Q86Y38

    1 Blocks protein domain: IPB003406 Glycosyl transferase

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


    XYLT1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008375acetylglucosaminyltransferase activity IEA--
    GO:0030158protein xylosyltransferase activity TAS11099377
         
    XYLT1 for ontologies           About GeneDecksing


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

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for XYLT1
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    miRTarBase miRNAs that target XYLT1:
    hsa-mir-16-5p (MIRT051176)

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    Selected qRT-PCR Assays for microRNAs that regulate XYLT1 (see all 153):
    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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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    XYLT1_HUMAN, Q86Y38: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    extracellular4
    lysosome1
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane IEA--
    GO:0005576extracellular region IEA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--

    XYLT1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for XYLT1 About   (see all 6)                                                                                              See pathways by source

    SuperPathContained pathways About
    1heparan sulfate biosynthesis
    heparan sulfate biosynthesis0.79
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin0.79
    2dermatan sulfate biosynthesis
    dermatan sulfate biosynthesis
    glycoaminoglycan-protein linkage region biosynthesis0.00
    3Metabolism
    Metabolic pathways0.38
    4Spinal Cord Injury
    Spinal Cord Injury
    5MPS VI - Maroteaux-Lamy syndrome
    chondroitin sulfate biosynthesis0.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5 BioSystems Pathways for XYLT1
        Spinal Cord Injury
    glycoaminoglycan-protein linkage region biosynthesis
    heparan sulfate biosynthesis
    chondroitin sulfate biosynthesis
    dermatan sulfate biosynthesis


    3 Kegg Pathways  (Kegg details for XYLT1):
        Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin
    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

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for XYLT1
    Interactions:

        Search GeneGlobe Interaction Network for XYLT1

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 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
    ENAMENSP000003793834STRING: ENSP00000379383
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

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

    XYLT1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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 inferred 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)



    XYLT1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    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

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate XYLT1 (see all 153):
    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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    Additional mRNA 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 BF516337 AA872053 BX102244 AW009370 AW377833 AA504612 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    XYLT1 expression in normal human tissues (normalized intensities)      XYLT1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    XYLT1 Expression
    About this image


    XYLT1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             HyStem+BMP4-induced 4D20.8 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             HyStem+BMP4-induced 4D20.8 cells
     
     Neural Crest (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
     
     Mesoderm (Gastrulation Derivatives)
             PureStem 7SMOO32, NCr-fac & Meso Progenitor
     
     Spinal Cord (Nervous System)
             Oligodendrocyte progenitor cells
    XYLT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    XYLT1 Protein Expression

    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:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for XYLT1

    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for XYLT1 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Xylt11 , 5 xylosyltransferase 11, 5 86.77(n)1
    91.13(a)1
      7 (62.93 cM)5
    2337811  NM_175645.31  NP_783576.21 
     1173809795 
    chicken
    (Gallus gallus)
    Aves XYLT11 xylosyltransferase I 78.14(n)
    85.21(a)
      414781  XM_414904.4  XP_414904.3 
    lizard
    (Anolis carolinensis)
    Reptilia XYLT16
    xylosyltransferase I
    53(a)
    1 ↔ 1
    GL343580.1(485125-523731)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.172132 Xenopus laevis transcribed sequence with moderate similarity more 77.13(n)    BX848571.1 
    zebrafish
    (Danio rerio)
    Actinopterygii xylt11 xylosyltransferase I 69.81(n)
    71.57(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
    more3
    peptide O-xylosyltransferase1
    41(a)3
    53.03(n)1
    43.09(a)1
      62D43
    382881  NM_139448.41  NP_647705.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y50D4C.43   -- 39(a)   V(951435-958868)   --


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

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

    XYLT1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for XYLT1 (see all 8376)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617583881,2
    Cpathogenic117564311(-) GGGGGG/TCACTG 2 A S mis10--------
    rs1926719281,2
    C--16197995(+) CTAAGA/GGCAAG 1 -- ds50010--------
    rs1416202281,2
    --16198132(+) TACGGA/GTTTAA 1 -- ds50010--------
    rs1850131981,2
    --16198189(+) TTGCTA/GTAATC 1 -- ds50010--------
    rs1453769741,2
    --16198260(+) AGGATA/GGGCCA 1 -- ds50010--------
    rs1378952391,2
    C--16198297(+) TCCACA/GTGGTG 1 -- ds50010--------
    rs1494599071,2
    --16198359(+) ATCCTA/GTCTTC 1 -- ds50010--------
    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
    rs1898941431,2
    --16198432(+) AGCCAC/TATATA 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for XYLT1 (17195626 - 17445626 bp, first 250kb of XYLT1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for XYLT1 (see all 31):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv435664CNV Deletion17901297
    esv2714015CNV Deletion23290073
    esv2714038CNV Deletion23290073
    dgv482e199CNV Deletion23128226
    esv2714035CNV Deletion23290073
    esv1009408CNV Deletion20482838
    esv2714036CNV Deletion23290073
    esv1343982CNV Deletion17803354
    esv2714037CNV Deletion23290073
    esv270381CNV Insertion20981092

    Human Gene Mutation Database (HGMD): XYLT1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing XYLT1
    DNA2.0 Custom Variant and Variant Library Synthesis for XYLT1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608124   
    OMIM disorders: 264800  
    19 diseases for XYLT1:    About MalaCards
    xylt1-cdg    pseudoxanthoma elasticum    pseudoxanthoma elasticum, modifier of severity of    eastern equine encephalitis
    astigmatism    diabetic nephropathy    adenoiditis    adenoid cystic carcinoma
    abdominal aortic aneurysm    aortic aneurysm    spinal cord injury    encephalitis
    choriocarcinoma    essential hypertension    osteoarthritis    infertility
    hypertension    type 1 diabetes    malaria

    2 diseases from the University of Copenhagen DISEASES database for XYLT1:
    Eastern equine encephalitis     Pseudoxanthoma elasticum

    XYLT1 for disorders           About GeneDecksing

    3 Novoseek inferred 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

    (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)
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    PubMed articles for XYLT1 gene, integrated from 10 sources (see all 55):
    (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. (J. Mol. Biol. 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. (Biochem. J. 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. (J. Biol. Chem. 2004)
    4. Xylosyltransferase I variants and their impact on abdominal aortic aneurysms. (PubMed id 18294457)1, 4, 9 GAPtting C....Kleesiek K. ( international journal of clinical chemistry 2008)
    5. The xylosyltransferase I gene polymorphism c.343G&gt;T (p.A125S) is a risk factor for diabetic nephropathy in type 1 diabetes. (PubMed id 17003309)1, 4, 9 SchAPn S....GAPtting C. (Diabetes Care 2006)
    6. 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 SchAPn S....GAPtting C. (Kidney Int. 2005)
    7. The xylosyltransferase Iota gene polymorphism c.343G&gt;T (p.A115S) is associated with decreased serum glycosaminoglycan levels. (PubMed id 19014925)1, 4, 9 Ambrosius M....GAPtting C. (Clin. Biochem. 2009)
    8. Xylosyltransferase gene variants and their role in essential hypertension. (PubMed id 19197251)1, 4, 9 PAPnighaus C....GAPtting C. (Am. J. Hypertens. 2009)
    9. Novel sequence variants in the human xylosyltransferase I gene and their role in diabetic nephropathy. (PubMed id 16759312)1, 4, 9 Bahr C....GAPtting C. (Diabet. Med. 2006)
    10. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

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

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for XYLT1 Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=XYLT1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    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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