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EXT1 Gene

protein-coding   GIFtS: 68
GCID: GC08M118880

Exostosin Glycosyltransferase 1

(Previous names: Langer-Giedion syndrome chromosome region, exostoses (multiple)...)
(Previous symbols: LGCR, LGS)
  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
Exostosin Glycosyltransferase 11 2     Multiple Exostoses Protein 12 3
LGCR1 2     Putative Tumor Suppressor Protein EXT12 3
LGS1 2     EXT2
Exostoses (Multiple) 11 2     TRPS22
Exostosin 11 2     TTV2
Langer-Giedion Syndrome Chromosome Region1 2     exostosin-12
Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N-
Acetylglucosaminyltransferase1 2
     EC 2.4.1.2243
N-Acetylglucosaminyl-Proteoglycan 4-Beta-Glucuronosyltransferase1 2     EC 2.4.1.2253
Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan/N-Acetylglucosaminyl-Proteoglycan
4-Alpha-N-Acetylglucosaminyltransferase2 3
     

External Ids:    HGNC: 35121   Entrez Gene: 21312   Ensembl: ENSG000001821977   OMIM: 6081775   UniProtKB: Q163943   

Export aliases for EXT1 gene to outside databases

Previous GC identifers: GC08M117798 GC08M118872 GC08M118480 GC08M118768 GC08M114138


(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 EXT1 Gene:
This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the
chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple
exostoses. (provided by RefSeq, Jul 2008)

GeneCards Summary for EXT1 Gene:
EXT1 (exostosin glycosyltransferase 1) is a protein-coding gene. Diseases associated with EXT1 include hereditary multiple osteochondromatosis, type i, and chondrosarcoma. GO annotations related to this gene include glucuronosyltransferase activity and protein homodimerization activity. An important paralog of this gene is EXTL1.

UniProtKB/Swiss-Prot: EXT1_HUMAN, Q16394
Function: Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses
substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor

Gene Wiki entry for EXT1 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_000008.11  NC_018919.2  NT_008046.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the EXT1 gene promoter:
         Oct-B1   Egr-3   AhR   oct-B2   oct-B3   Nkx2-5   POU2F2   Arnt   POU2F1   POU2F1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEXT1 promoter sequence
   Search Chromatin IP Primers for EXT1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EXT1


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

Entrez Gene cytogenetic band: 8q24.11   Ensembl cytogenetic band:  8q24.11   HGNC cytogenetic band: 8q24.11

EXT1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EXT1 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M118880:  view genomic region     (about GC identifiers)

Start:
118,806,729 bp from pter      End:
119,124,092 bp from pter
Size:
317,364 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: EXT1_HUMAN, Q16394 (See protein sequence)
Recommended Name: Exostosin-1  
Size: 746 amino acids; 86255 Da
Subunit: Forms a homo/hetero-oligomeric complex with EXT2
Secondary accessions: B2R7V2 Q9BVI9

Explore the universe of human proteins at neXtProt for EXT1: NX_Q16394

Explore proteomics data for EXT1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn89, Asn330
  • Modification sites at PhosphoSitePlus

  • See EXT1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000118.2  
    ENSEMBL proteins: 
     ENSP00000367446   ENSP00000407299   ENSP00000400372  
    Reactome Protein details: Q16394

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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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    HGNC Gene Families:
    EXT: Exostosin glycosyltransferase family

    3 InterPro protein domains:
     IPR004263 Exostosin
     IPR015338 HexNAc_Trfase_a
     IPR027670 Exostosin-1

    Graphical View of Domain Structure for InterPro Entry Q16394

    ProtoNet protein and cluster: Q16394

    1 Blocks protein domain: IPB004263 Exostosin-like

    UniProtKB/Swiss-Prot: EXT1_HUMAN, Q16394
    Similarity: Belongs to the glycosyltransferase 47 family


    EXT1 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: EXT1_HUMAN, Q16394
    Function: Glycosyltransferase required for the biosynthesis of heparan-sulfate. The EXT1/EXT2 complex possesses
    substantially higher glycosyltransferase activity than EXT1 or EXT2 alone. Appears to be a tumor suppressor
    Catalytic activity: UDP-N-acetyl-D-glucosamine +
    beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan = UDP +
    N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-proteoglycan
    Catalytic activity: UDP-alpha-D-glucuronate +
    N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan = UDP +
    beta-D-glucuronosyl-(1->4)-N-acetyl-alpha-D-glucosaminyl-(1->4)-beta-D-glucuronosyl-proteoglycan

         Genatlas biochemistry entry for EXT1:
    exostoses multiple gene 1,transmembrane glycoprotein,housekeeping gene ubiquitously expressed,localized to the
    rough endoplasmic reticulum (ER), accumulating in the Golgi network,forming a stable complex with EXT2 and
    catalyzing the synthesis of heparan sulfate,homolog to EXT2,80 kDa,mutated in EXT1 and having tumor suppressor
    function (see TSG8C),

         Enzyme Numbers (IUBMB): EC 2.4.1.2251 EC 2.4.1.2241

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008375acetylglucosaminyltransferase activity IDA12907669
    GO:0015020glucuronosyltransferase activity IDA12907669
    GO:0016757transferase activity, transferring glycosyl groups IDA12907669
    GO:0016758transferase activity, transferring hexosyl groups ----
    GO:0042328heparan sulfate N-acetylglucosaminyltransferase activity NAS12907669
         
    EXT1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for EXT1:
     Upregulation of Wnt/beta-caten 

         Selected MGI mutant phenotypes (inferred from 9 alleles(MGI details for Ext1) (see all 16):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size/body  hearing/vestibular/ear  integument  limbs/digits/tail  mortality/aging 
     nervous system  no phenotypic analysis  normal  skeleton  tumorigenesis 

    EXT1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for EXT1: Ext1tm1.1Yama Ext1tm1.1Lex Ext1tm1.2Vcs

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for EXT1
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    miRNA
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    miRTarBase miRNAs that target EXT1:
    hsa-mir-320a (MIRT044632), hsa-mir-375 (MIRT020052)

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    Selected qRT-PCR Assays for microRNAs that regulate EXT1 (see all 18):
    hsa-miR-607 hsa-miR-3942-5p hsa-miR-944 hsa-miR-3133 hsa-miR-29b-1* hsa-miR-4298 hsa-miR-633 hsa-miR-1302
    SwitchGear 3'UTR luciferase reporter plasmidEXT1 3' UTR sequence
    Inhib. RNA
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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
    EXT1_HUMAN, Q16394: Endoplasmic reticulum membrane; Single-pass type II membrane protein. Golgi apparatus
    membrane; Single-pass type II membrane protein. Note=The EXT1/EXT2 complex is localized in the Golgi apparatus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus5
    extracellular1
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000139Golgi membrane TAS12907669
    GO:0005783endoplasmic reticulum IDA9620772
    GO:0005789endoplasmic reticulum membrane NAS9620772
    GO:0005794Golgi apparatus IDA10639137
    GO:0016021integral component of membrane TAS9620772

    EXT1 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 EXT1 About    
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1heparan sulfate biosynthesis
    heparan sulfate biosynthesis0.79
    heparan sulfate biosynthesis (late stages)0.00
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin0.79
    2Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    3MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    4Heparan sulfate/heparin (HS-GAG) metabolism
    Heparan sulfate/heparin (HS-GAG) metabolism0.57
    HS-GAG biosynthesis0.57
    5Disease
    Disease

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for EXT1
        heparan sulfate biosynthesis (late stages)
    heparan sulfate biosynthesis


    1 Reactome Pathway for EXT1
        HS-GAG biosynthesis


    2 Kegg Pathways  (Kegg details for EXT1):
        Glycosaminoglycan biosynthesis - heparan sulfate / heparin
    Metabolic pathways

    UniProtKB/Swiss-Prot: EXT1_HUMAN, Q16394
    Pathway: Protein modification; protein glycosylation


    EXT1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EXT1
    Interactions:

        GeneGlobe Interaction Network for EXT1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for EXT1 (Q163943 ENSP000003674464) via UniProtKB, MINT, STRING, and/or I2D (see all 27)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    TRAP1Q129313, ENSP000002469574I2D: score=3 STRING: ENSP00000246957
    MYH1P128823, ENSP000002262074I2D: score=1 STRING: ENSP00000226207
    EXT2Q930633, ENSP000003426564I2D: score=3 STRING: ENSP00000342656
    OSTF1Q928823, ENSP000003408364I2D: score=2 STRING: ENSP00000340836
    CNTFP264413, ENSP000003553704I2D: score=2 STRING: ENSP00000355370
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 18):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS9620772
    GO:0001503ossification IMP7550340
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006024glycosaminoglycan biosynthetic process TAS--
    GO:0006486protein glycosylation IEA--

    EXT1 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
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    Browse Tocris compounds for EXT1

    2 HMDB Compounds for EXT1    About this table
    CompoundSynonyms CAS #PubMed Ids
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate-N-acetylglucosamineN-[2-[[[5-[(2,4-dioxo-1H-pyrimidin-1-yl)]-3,4-dihydroxy-tetrahydrofuran-2-yl]methoxy-hydroxy-phosphinoyl]oxy-hydroxy-phosphinoyl]oxy-4,5-dihydroxy-6-(hydroxymethyl)tetrahydropyran-3-yl]acetamide (see all 30)528-04-1--

    4 Novoseek inferred chemical compound relationships for EXT1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heparan sulfate 84.7 83 17761672 (6), 15161920 (5), 11121397 (3), 10926768 (3) (see all 33)
    glycosaminoglycan 25.3 1 17610078 (1)
    arginine 3.77 7 11170095 (1)
    heparin 0 1 12907685 (1)



    EXT1 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 EXT1 gene: 
    NM_000127.2  

    Unigene Cluster for EXT1:

    Exostosin glycosyltransferase 1
    Hs.492618  [show with all ESTs]
    Unigene Representative Sequence: NM_000127
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378204(uc003yok.1) ENST00000437196 ENST00000436216
    miRNA
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    hsa-miR-607 hsa-miR-3942-5p hsa-miR-944 hsa-miR-3133 hsa-miR-29b-1* hsa-miR-4298 hsa-miR-633 hsa-miR-1302
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      QuantiFast Probe-based Assays in human, mouse, rat EXT1

    Additional mRNA sequence: 

    AK130054.1 AK313129.1 BC001174.1 DQ644536.1 S79639.1 

    13 DOTS entries:

    DT.100823384  DT.218142  DT.100707766  DT.121491521  DT.121491603  DT.102838202  DT.102838201  DT.121491556 
    DT.121491617  DT.85104306  DT.95272482  DT.95272481  DT.99992771 

    Selected AceView cDNA sequences (see all 278):

    AA910187 BE140552 BF059710 AA332786 AI087189 AW663936 AI638474 BQ009861 
    BU154830 CA308793 BX094035 BU839234 AI676116 BC001174 CB161636 BM722194 
    BQ001601 AL120586 AI690941 BM784896 AA702003 AI672951 BQ021387 NM_000127 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for EXT1    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
    SP1:                                -                                                         
    SP2:                                                                                          
    SP3:        -     -                 -                                                         


    ECgene alternative splicing isoforms for EXT1

    (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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    EXT1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGCTGATCC
    EXT1 Expression
    About this image


    EXT1 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
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Monocytes Peripheral Blood
     
     Ovary (Reproductive System)
             Mature follicles
    EXT1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EXT1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.492618

    UniProtKB/Swiss-Prot: EXT1_HUMAN, Q16394
    Tissue specificity: Ubiquitous

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    In Situ
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    (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 EXT1 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ext11 , 5 exostoses (multiple) 11, 5 95.84(n)1
    99.33(a)1
      15 (20.00 cM)5
    140421  NM_010162.21  NP_034292.21 
     530640385 
    chicken
    (Gallus gallus)
    Aves LOC1008582051 exostosin-1-like 85.86(n)
    92.3(a)
      100858205  XM_003640854.2  XP_003640902.1 
    lizard
    (Anolis carolinensis)
    Reptilia EXT16
    exostosin glycosyltransferase 1
    92(a)
    1 ↔ 1
    GL343269.1(132321-396612)
    African clawed frog
    (Xenopus laevis)
    Amphibia AB048247.12   -- 80.53(n)    AB048247.1 
    zebrafish
    (Danio rerio)
    Actinopterygii 570761902   -- 76.59(n)    57076190 
    fruit fly
    (Drosophila melanogaster)
    Insecta ttv1 , 3 heparan sulfate proteoglycan
    biosynthesis
    acetylglucosaminyltransferase3
    tout-velu1
    52(a)3
    58.15(n)1
    56.91(a)1
      366141  NM_057883.31  NP_477231.11 
    worm
    (Caenorhabditis elegans)
    Secernentea rib-11 , 3 MULTIPLE EXOSTOSES HOMOLOG 13
    rib-11
    49(a)3
    52.58(n)1
    50.89(a)1
      IV(11578974-11583603)3
    1780801  NM_069779.41  NP_502180.11 


    ENSEMBL Gene Tree for EXT1 (if available)
    TreeFam Gene Tree for EXT1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EXT1 gene
    EXTL12  EXTL32  EXTL22  EXT22  
    2 SIMAP similar genes for EXT1 using alignment to 7 protein entries:     EXT1_HUMAN (see all proteins):
    EXTL1    EXT2

    EXT1 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 EXT1 (see all 6813)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1888599751,2,,4
    CHereditary multiple exostoses 1 (EXT1)4 --119102415(+) TCACCA/GCATGG 2 A V mis10--------
    VAR_0128154
    Hereditary multiple exostoses 1 (EXT1)4--see VAR_0128152 Q K mis40--------
    VAR_0023724
    Hereditary multiple exostoses 1 (EXT1)4--see VAR_0023722 G D mis40--------
    VAR_0128224
    Hereditary multiple exostoses 1 (EXT1)4--see VAR_0128222 P L mis40--------
    VAR_0023754
    Hereditary multiple exostoses 1 (EXT1)4--see VAR_0023752 R L mis40--------
    VAR_0023744
    Hereditary multiple exostoses 1 (EXT1)4--see VAR_0023742 R H mis40--------
    VAR_0023734
    Hereditary multiple exostoses 1 (EXT1)4--see VAR_0023732 R C mis40--------
    VAR_0023714
    Hereditary multiple exostoses 1 (EXT1)4--see VAR_0023712 R S mis40--------
    VAR_0023764
    Hereditary multiple exostoses 1 (EXT1)4--see VAR_0023762 R S mis40--------
    VAR_0128204
    Chondrosarcoma (CHDSA)4--see VAR_0128202 N S mis40--------

    HapMap Linkage Disequilibrium report for EXT1 (118806729 - 119056729 bp, first 250kb of EXT1)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for EXT1 (see all 27):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1925197CNV Deletion18987734
    esv2606814CNV Deletion19546169
    esv2664743CNV Deletion23128226
    esv2447144CNV Deletion19546169
    esv2737478CNV Deletion23290073
    esv2737477CNV Deletion23290073
    esv2678041CNV Deletion23128226
    esv2668860CNV Deletion23128226
    nsv891411CNV Loss21882294
    nsv891412CNV Loss21882294

    Human Gene Mutation Database (HGMD): EXT1
    Locus Specific Mutation Databases (LSDB): EXT1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing EXT1
    DNA2.0 Custom Variant and Variant Library Synthesis for EXT1

    (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: 608177   
    OMIM disorders: 133700  215300  
    UniProtKB/Swiss-Prot: EXT1_HUMAN, Q16394
  • Hereditary multiple exostoses 1 (EXT1) [MIM:133700]: EXT is a genetically heterogeneous bone disorder
    caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively.
    EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease
    is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or
    osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of
    cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma.
    Osteochondromas development can also occur as a sporadic event. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Tricho-rhino-phalangeal syndrome 2 (TRPS2) [MIM:150230]: A syndrome that combines the clinical features
    of tricho-rhino-phalangeal syndrome type 1 and multiple exostoses type 1. Affected individuals manifest multiple
    dysmorphic facial features including large, laterally protruding ears, a bulbous nose, an elongated upper lip, as
    well as sparse scalp hair, winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental
    retardation. Note=The gene represented in this entry is involved in disease pathogenesis. A chromosomal
    aberration resulting in the loss of functional copies of TRPS1 and EXT1 has been found in TRPS2 patients
  • Chondrosarcoma (CHDSA) [MIM:215300]: A malignant neoplasm derived from cartilage cells. Chondrosarcomas
    range from slow-growing non-metastasizing lesions to highly aggressive metastasizing sarcomas. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • Selected diseases for EXT1 (see all 44):    
    About MalaCards
    hereditary multiple osteochondromatosis, type i    chondrosarcoma    exostoses, multiple, type 1    trichorhinophalangeal syndrome type ii
    dysplasia epiphysealis hemimelica    osteochondroma    hereditary multiple osteochondromas    trichorhinophalangeal syndrome type i
    extratemporal epilepsy    dacryocystitis    hereditary multiple exostoses    gastroesophageal junction adenocarcinoma
    osteopoikilosis    exostosis    recurrent respiratory papillomatosis    ollier disease
    hypertrichosis    autosomal dominant disease    congenital heart defect    coloboma

    5 diseases from the University of Copenhagen DISEASES database for EXT1:
    Exostosis     Chondrosarcoma     Ollier disease     Autosomal dominant disease
    Extratemporal epilepsy

    EXT1 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for EXT1 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    exostoses multiple hereditary 98.9 107 9150727 (3), 9463333 (2), 10639137 (2), 20233460 (2) (see all 67)
    exostoses 94.3 8 9463333 (2), 10878610 (1), 10679937 (1), 10750558 (1) (see all 7)
    langer-giedion syndrome 91.2 8 8530105 (2), 19464398 (1), 12457403 (1), 10647898 (1)
    osteochondroma 89.8 29 15796962 (3), 12645631 (3), 17226760 (2), 9576285 (2) (see all 14)
    chondrosarcoma 84.2 22 15796962 (6), 8981950 (4), 19179614 (2), 9463333 (1) (see all 11)
    skeletal disorder 73.3 3 9326317 (1), 16476576 (1), 19839753 (1)
    bone diseases 61 5 9463333 (1), 10713884 (1), 9150727 (1), 11170095 (1)
    bone tumor 57.3 1 9479495 (1)
    genetic disorder 55.8 7 10639137 (1), 11391482 (1), 18367479 (1), 11169766 (1) (see all 5)
    tumors 35.8 35 9463333 (2), 10639137 (2), 11121397 (2), 17610078 (2) (see all 23)

    Genatlas disease: EXT1
    exostoses,multiple,1,also associated with trichorhinophalangeal syndrome in Langer-Giedion syndrome (see LGCR)

    GeneTests: EXT1
    GeneReviews: EXT1
    Genetic Association Database (GAD): EXT1
    Human Genome Epidemiology (HuGE) Navigator: EXT1 (6 documents)

    Export disorders for EXT1 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 EXT1 gene, integrated from 10 sources (see all 164):
    (articles sorted by number of sources associating them with EXT1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. (PubMed id 9463333)1, 2, 9 Wuyts W.... Willems P.J. (Am. J. Hum. Genet. 1998)
    2. Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. (PubMed id 11169766)1, 2, 9 Bernard M.A.... Hecht J.T. (Cell Motil. Cytoskeleton 2001)
    3. Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. (PubMed id 10679296)1, 2, 9 Kobayashi S....Shirasawa T. (Biochem. Biophys. Res. Commun. 2000)
    4. Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity. (PubMed id 11391482)1, 2, 9 Cheung P.K....Duncan G. (Am. J. Hum. Genet. 2001)
    5. Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. (PubMed id 9521425)1, 2, 9 Raskind W.H.... Houck J. (Hum. Mutat. 1998)
    6. Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. (PubMed id 9326317)1, 2, 9 Philippe C....Monaco A.P. (Am. J. Hum. Genet. 1997)
    7. Mutation analysis of hereditary multiple exostoses in the Chinese. (PubMed id 10480354)1, 2, 9 Xu L.... Deng H.-X. (Hum. Genet. 1999)
    8. Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. (PubMed id 8981950)1, 2, 9 Hecht J.T.... Wells D.E. (Am. J. Hum. Genet. 1997)
    9. Mutation screening of EXT1 and EXT2 by direct sequence analysis and MLPA in patients with multiple osteochondromas: splice site mutations and exonic deletions account for more than half of the mutations. (PubMed id 15586175)1, 4, 9 Vink G.R....Bakker E. (Eur. J. Hum. Genet. 2005)
    10. An optimized DHPLC protocol for molecular testing of the EXT1 and EXT2 genes in hereditary multiple osteochondromas. (PubMed id 16283885)1, 4, 9 Wuyts W....Vits L. (Clin. Genet. 2005)

    (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)
    About This Section

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    Entrez Gene: 2131 HGNC: 3512 AceView: EXT1 Ensembl:ENSG00000182197 euGenes: HUgn2131
    ECgene: EXT1 Kegg: 2131 H-InvDB: EXT1

    (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 EXT1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EXT1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=EXT1[genesymbol]
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=EXT1

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EXT1 gene:
    Search GeneIP for patents involving EXT1

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



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