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XYLT1 Gene

protein-coding   GIFtS: 54

GC16M017108
xylosyltransferase I
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
EC 2.4.2.26 3
XT-I 1, 2, 3
XT1 2, 3, 5
XylT-I 3
Descriptions
O-xylosyltransferase 1 2
Peptide O-xylosyltransferase 1 3
UDP-D-xylose:proteoglycan core protein
beta-D-xylosyltransferase 1 2
xylosyltransferase I 2, 3
External Ids
HGNC: 155161
Entrez Gene: 641312
UniProtKB: Q86Y383
Ensembl: ENSG000001034897
Search outside databases for aliases for XYLT1 gene

Previous GC identifers: GC16P017598 GC16P016874 GC16M017128 GC16M017167

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for XYLT1:
Xylosyltransferase (XT; EC 2.4.2.26) catalyzes the transfer of UDP-xylose to serine residues within
XT recognition sequences of target proteins. Addition of this xylose to the core protein is
required for the biosynthesis of the glycosaminoglycan chains characteristic of
proteoglycans.[supplied by OMIM]

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

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the XYLT1 gene  

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)

GeneLoc gene densities for chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M017108:     (about GC identifiers)

Start:
17,103,682 bp from pter
End:
17,472,239 bp from pter
Size:
368,558 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000016.8  NT_010393.15  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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

Post-translational modifications:

  • Contains 7 disulfide bonds1
  • N-glycosylated1


  • REFSEQ proteins: NP_071449.1  

    ENSEMBL proteins: 
    ENSP00000261381 


    Human Recombinant Proteins 
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                    Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

    5/8 Gene Ontology (GO) cellular component terms (links to tree view) (see all 8 ):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139 Golgi membrane IEA--
    GO:0005576 extracellular region IEA--
    GO:0005737 cytoplasm IDA18029348
    GO:0005783 endoplasmic reticulum IEA--
    GO:0005789 endoplasmic reticulum membrane IEA--
    About this table

    Antibodies for XYLT1: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for XYLT1
    Browse R&D Systems for Antibodies
    Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
    Browse Abnova for Monoclonal and Polyclonal Antibodies
    Search Novus for antibodies for XYLT1

    Assays for XYLT1: 
    Browse Invitrogen for biochemical assays
    Browse Kits and Assays available from Millipore
    Browse R&D Systems for biochemical assays
    Browse biochemical assays available from Enzo Life Sciences

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

    1 InterPro domain/family:
     IPR003406 Glyco_trans_14


       GeneDecks  XYLT1 for the domains selected above  
    About GeneDecksing

    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

    (According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
    RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (XYLT1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022166

                  Applied Biosystems Silencer® siRNAs for XYLT1

                  Sigma-Aldrich siRNA for XYLT1  
                         Sigma-Aldrich shRNA for XYLT1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Clones:Browse Clone Ranger at Invitrogen for clones
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_022166
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_022166
                                     untagged cDNA clone in CMV expression vector: NM_022166 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_022166

    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 2.4.2.26 

    3 Gene Ontology (GO) molecular function terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008375 acetylglucosaminyltransferase activity IEA--
    GO:0016757 transferase activity, transferring glycosyl groups IEA--
    GO:0030158 protein xylosyltransferase activity TAS11099377
    About this table

    (Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
    Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
    About This Section


    1 Sigma-Aldrich "Your Favorite Gene" Pathway for  XYLT1  (Your Favorite Gene powered by Ingenuity) 
     Chondroitin Sulfate Biosynthesis

       GeneDecks  XYLT1 for the pathways selected above  
    About GeneDecksing

    2 Kegg Pathways  (Kegg details for XYLT1):
     hsa00532 Chondroitin sulfate biosynthesis
     hsa00534 Heparan sulfate biosynthesis

       GeneDecks  XYLT1 for the pathways selected above  
    About GeneDecksing
    UniProtKB/Swiss-Prot: XYLT1_HUMAN, Q86Y38
    Pathway: Glycan metabolism; chondroitin sulfate biosynthesis
    Pathway: Glycan metabolism; heparan sulfate biosynthesis


    2 Interacting proteins for XYLT1 (ENSP000002613813) via UniProtKB, MINT, and/or STRING

    InteractantInteraction Details
    GeneCardExternal ID(s)
    B4GALT7ENSP000000294103STRING (score=.899)
    XYLT2ENSP000000170033STRING (score=.809)
    About this table

    1 Gene Ontology (GO) biological process term (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006024 glycosaminoglycan biosynthetic process TAS11099377
    About this table
    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    Browse drugs & compounds from Enzo Life Sciences
    Browse Small Molecules at Sigma-Aldrich

    Browse Tocris compounds for XYLT1
    7 Novoseek chemical compound relationships for XYLT1 gene
    Compound   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    udpxylose 92.11 8 16569644 (1), 11099377 (1), 17437056 (1), 14680799 (1) (see all 6)
    glycosaminoglycan 82.57 31 17189265 (2), 17635914 (2), 15607938 (1), 18294457 (1) (see all 14)
    xylose 77.83 12 16376579 (1), 16569644 (1), 11099377 (1), 17189265 (1) (see all 9)
    chondroitin 74.08 1 17597120 (1)
    chondroitin sulfate 57.03 3 17189265 (1), 17597120 (1), 16778156 (1)
    tetrasaccharide 56.92 2 17189265 (1)
    heparan sulfate 53.68 2 17189265 (1), 16778156 (1)
    About this table


    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Invitrogen, Millipore, and/or Abnova,
    siRNAs from Applied Biosystems, Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene,
    Tagged/untagged cDNA clones from OriGene,
    Expression Assays from Applied Biosystems)
    About This Section

    Inhib.
    RNA:
    Invitrogen RNAi Products for gene knock-down (XYLT1)
    Browse for Gene Knock-down Tools from Millipore
    Browse Abnova for Chimera RNAi Products
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_022166

                  Sigma-Aldrich siRNA for XYLT1  
                         Sigma-Aldrich shRNA for XYLT1  
                         Explore Sigma-Aldrich super-pooled esiRNAs  

    Applied Biosystems Silencer® siRNAs: 

    NM_022166  

    REFSEQ mRNAs for XYLT1 gene: 

    NM_022166.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_022166  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_022166
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_022166
                                     untagged cDNA clone in CMV expression vector: NM_022166 

    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 BF516337 AA872053 AW009370 BX102244 AW377833 AA504612 

    highest scoring ESTs for XYLT1:

    AJ539163 BE676842 AA181159 AI524006 AJ277441 AK000198 AL707022 BE158827 BE832450 BF733896 

    Unigene Cluster for XYLT1:

    Xylosyltransferase I
    Hs.22907  [show with all ESTs]
    Unigene Representative Sequence: NM_022166


    GeneLoc Exon Structure

    1 Ensembl transcript including schematic representation:
    ENST00000261381  
    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Expression Assays from Applied Biosystems )
    About This Section

    XYLT1 expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for XYLT1

    1 / 2 / 3

    5 probe-sets matching XYLT1 gene


    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

    34283_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AL050125 0.40 1.00 0.76 1

    213725_x_at2, 3 U133-A 1 1.00 1.00 -- -- AI693140 0.20 1.00 0.72 1

    232574_at2, 3 U133-B 1 1.00 1.00 -- -- AK000198 0.60 1.00 0.82 1

    213725_x_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    232574_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    About this table
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GGTAGGATGT

    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

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section


    Orthologs for XYLT1 gene from 5/10 species (see all 10 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    XYLT11   -- xylosyltransferase I 88.79(n)
    92.28(a)
    494008  NM_001008718.1  NP_001008718.1 
    chimpanzee
    (Pan troglodytes)
    XYLT11   -- xylosyltransferase I 99.51(n)
    99.79(a)
    453955  NM_001037289.1  NP_001032366.1 
    rat
    (Rattus norvegicus)
    Xylt11   -- xylosyltransferase 1 87.28(n)
    92.78(a)
    64133  XM_341912.1  XP_341913.1 
    mouse
    (Mus musculus)
    Xylt11, 5 75
    xylosyltransferase 11, 5 87.49(n)1
    92.22(a)1
    2337811  NM_175645.31  NP_783576.21 
     AJ2917505  AJ5391645  (see all 11)
    chicken
    (Gallus gallus)
    XYLT11   -- xylosyltransferase I 74.22(n)
    79.74(a)
    414781  XM_414904.2  XP_414904.2 
    About this table        Species with no ortholog for XYLT1

    ENSEMBL Gene Tree for XYLT1
    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section

    Paralogs for XYLT1 gene
    XYLT22  

    (According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
    About This Section


    10/2353 NCBI SNPs in XYLT1 are shown (see all 2353 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 726)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 16 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs116441731,2
    A,C,F,H17108174(+) TAAGGA/GAAAAA 1 -- ut3112Minor allele frequency- G:0.08EU EA WA 1258
    rs38129581,2
    A,C,F,H17106812(+) AGCAGC/TGCGCT 1 -- ut316Minor allele frequency- T:0.06EU EA NA 430
    rs72004661,2
    A,C,F,H17119046(+) CGCAAC/TGAGGA 1 V/I mis1 ese38Minor allele frequency- T:0.07EU EA WA 838
    rs71931521,2
    A,C,F,H17109163(+) AGGATC/TAAAGA 1 -- ut31 ese311Minor allele frequency- T:0.11EU EA WA NA 980
    rs80460241,2
    A,C,F,H17108186(+) CAAGGC/TTCCAA 1 -- ut317Minor allele frequency- T:0.22EU EA WA NA 562
    rs80449341,2
    A,C,F,H17108260(+) TGTTCG/AATGCC 1 -- ut3111Minor allele frequency- A:0.22EU EA WA NA 980
    rs71847431,2
    A,C,F,H17107812(+) TCCCTG/AGAATC 1 -- ut3111Minor allele frequency- A:0.22EU EA WA NA 980
    rs71870181,2
    A,C,F,H17107926(+) GCATGA/GATGCC 1 -- ut317Minor allele frequency- G:0.22EU EA WA NA 556
    rs110753381,2
    A,C,F,H17108697(+) CATTCA/GGGGGA 1 -- ut318Minor allele frequency- G:0.32EU EA WA 832
    rs42386521,2
    A,C,F,H17107166(+) ACCAAT/CGGCCT 1 -- ut3116Minor allele frequency- C:0.49EA NA EU WA 1474
    About this table

    HapMap Linkage Disequilibrium images for XYLT1 (up to first 250kb)

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
    About This Section

    OMIM: 608124   disorders: 264800  

    3 Novoseek disease relationships for XYLT1 gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    pseudoxanthoma elasticum 71.61 2 16571645 (1), 16133423 (1)
    diabetic nephropathies 46.79 3 17003309 (3)
    sclerosis systemic 31.12 1 15820781 (1)
    About this table

    Human Gene Mutation Database: XYLT1
    Genetic Association Database: XYLT1
    Human Genome Epidemiology Navigator: XYLT1 (6 documents)

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/40 PubMed articles for XYLT1 gene (see all 40 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    Aliases
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 64131 HGNC: 15516 AceView: XYLT1.1 Ensembl:ENSG00000103489 euGenes: HUgn64131
    ECgene: XYLT1 H-InvDB: XYLT1
    (According to HUGE)
    About This Section

      --
    (According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section

    NameDescription
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=XYLT1
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for XYLT1:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
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     Predesigned and custom siRNAs for XYLT1 Antibodies for XYLT1
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for XYLT1 Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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