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EXTL1 Gene

protein-coding   GIFtS: 58
GCID: GC01P026346

Exostosin-Like Glycosyltransferase 1

(Previous name: exostoses (multiple)-like 1)
  See EXTL1-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-Like Glycosyltransferase 11 2     EXTL2 3
Exostoses (Multiple)-Like 11 2     4-N- Acetylglucosaminyltransferase1
Alpha-N-Acetylglucosaminyltransferase II1 2     Glucuronyl-N-Acetylglucosaminylproteoglycan Alpha-11
exostosin-L1 2     Exostosin-Like 12
Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan 4-Alpha-N-
Acetylglucosaminyltransferase1 2
     Glucuronyl-N-Acetylglucosaminylproteoglycan Alpha-1,4-N-
Acetylglucosaminyltransferase2
Glucuronosyl-N-Acetylglucosaminyl-Proteoglycan
4-Alpha-N-Acetylglucosaminyltransferase2 3
     EC 2.4.1.2243
Multiple Exostosis-Like Protein2 3     Exostosin-L3

External Ids:    HGNC: 35151   Entrez Gene: 21342   Ensembl: ENSG000001580087   OMIM: 6017385   UniProtKB: Q929353   

Export aliases for EXTL1 gene to outside databases

Previous GC identifers: GC01P025828 GC01P025368 GC01P025581 GC01P025952 GC01P026032 GC01P026220 GC01P024602


(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 EXTL1 Gene:
This gene is a member of the multiple exostoses (EXT) family of glycosyltransferases, which function in the chain
polymerization of heparan sulfate and heparin. The encoded protein harbors alpha 1,4-
N-acetylglucosaminyltransferase activity, and is involved in chain elongation of heparan sulfate and possibly
heparin. (provided by RefSeq, Jul 2008)

GeneCards Summary for EXTL1 Gene:
EXTL1 (exostosin-like glycosyltransferase 1) is a protein-coding gene. Diseases associated with EXTL1 include hereditary multiple exostoses, and exostosis. GO annotations related to this gene include glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity. An important paralog of this gene is EXTL3.

UniProtKB/Swiss-Prot: EXTL1_HUMAN, Q92935
Function: Probable glycosyltransferase (By similarity)

Gene Wiki entry for EXTL1 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 at NCBI GenBank:
NC_000001.10  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the EXTL1 gene promoter:
         Spz1   AP-4   CUTL1   YY1   HEN1   CREB   deltaCREB   HFH-1   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidEXTL1 promoter sequence
   Search Chromatin IP Primers for EXTL1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat EXTL1


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

Entrez Gene cytogenetic band: 1p36.1   Ensembl cytogenetic band:  1p36.11   HGNC cytogenetic band: 1p36.1

EXTL1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
EXTL1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P026346:  view genomic region     (about GC identifiers)

Start:
26,346,375 bp from pter      End:
26,362,955 bp from pter
Size:
16,581 bases      Orientation:
plus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: EXTL1_HUMAN, Q92935 (See protein sequence)
Recommended Name: Exostosin-like 1  
Size: 676 amino acids; 74697 Da
Secondary accessions: Q6GSC1

Explore the universe of human proteins at neXtProt for EXTL1: NX_Q92935

Explore proteomics data for EXTL1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn269

  • See EXTL1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_004446.2  
    ENSEMBL proteins: 
     ENSP00000363398  

    EXTL1 Human Recombinant Protein Products:

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    antibodies-online proteins for EXTL1 (3 products) 

     
    antibodies-online peptides for EXTL1

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    antibodies-online antibodies for EXTL1 (12 products) 

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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
     IPR027675 Exostosin-like_1

    Graphical View of Domain Structure for InterPro Entry Q92935

    ProtoNet protein and cluster: Q92935

    1 Blocks protein domain: IPB004263 Exostosin-like

    UniProtKB/Swiss-Prot: EXTL1_HUMAN, Q92935
    Similarity: Belongs to the glycosyltransferase 47 family


    Find genes that share domains with EXTL1           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: EXTL1_HUMAN, Q92935
    Function: Probable glycosyltransferase (By similarity)
    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

         Genatlas biochemistry entry for EXTL1:
    EXT-like,expressed in skeletal muscle,brain and heart,homolog to EXT1 and EXT2

         Enzyme Number (IUBMB): EC 2.4.1.2241

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016758transferase activity, transferring hexosyl groups ----
    GO:0050508glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity IEA--
         
    Find genes that share ontologies with EXTL1           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for EXTL1

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    5 qRT-PCR Assays for microRNAs that regulate EXTL1:
    hsa-miR-140-5p hsa-miR-1197 hsa-miR-3651 hsa-miR-548s hsa-miR-509-3p
    SwitchGear 3'UTR luciferase reporter plasmidEXTL1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat EXTL1

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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat EXTL1

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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
    EXTL1_HUMAN, Q92935: Endoplasmic reticulum membrane; Single-pass type II membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    golgi apparatus2
    extracellular1
    lysosome1
    nucleus1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral component of membrane IEA--
    GO:0031227intrinsic component of endoplasmic reticulum membrane IEA--

    Find genes that share ontologies with EXTL1           About GenesLikeMe


    (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 EXTL1 About    
    See pathways by source

    SuperPathContained pathways About
    1heparan sulfate biosynthesis
    heparan sulfate biosynthesis0.79
    heparan sulfate biosynthesis (late stages)0.00
    Glycosaminoglycan biosynthesis - heparan sulfate / heparin0.79
    2Metabolism
    Metabolic pathways0.38


    Find genes that share SuperPaths with EXTL1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for EXTL1
        heparan sulfate biosynthesis (late stages)
    heparan sulfate biosynthesis


    2 Kegg Pathways  (Kegg details for EXTL1):
        Glycosaminoglycan biosynthesis - heparan sulfate / heparin
    Metabolic pathways

    UniProtKB/Swiss-Prot: EXTL1_HUMAN, Q92935
    Pathway: Protein modification; protein glycosylation

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for EXTL1
    Interactions:

        Search GeneGlobe Interaction Network for EXTL1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for EXTL1 (Q929353 ENSP000003633984) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629933, ENSP000003390074I2D: score=1 STRING: ENSP00000339007
    EXT1ENSP000003674464STRING: ENSP00000367446
    EXT2ENSP000003426564STRING: ENSP00000342656
    CANXENSP000002474614STRING: ENSP00000247461
    CLGNENSP000003266994STRING: ENSP00000326699
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development TAS9037597
    GO:0006486protein glycosylation IEA--

    Find genes that share ontologies with EXTL1           About GenesLikeMe



    (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 EXTL1

    2 HMDB Compounds for EXTL1    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--

    1 Novoseek inferred chemical compound relationship for EXTL1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    heparan sulfate 68.9 2 17237233 (1), 17761672 (1)



    Find genes that share compounds with EXTL1           About GenesLikeMe



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for EXTL1 gene: 
    NM_004455.2  

    Unigene Cluster for EXTL1:

    Exostosin-like glycosyltransferase 1
    Hs.150956  [show with all ESTs]
    Unigene Representative Sequence: NM_004455
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000481377 ENST00000374280(uc001blf.3) ENST00000484339 ENST00000470037

    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate EXTL1:
    hsa-miR-140-5p hsa-miR-1197 hsa-miR-3651 hsa-miR-548s hsa-miR-509-3p
    SwitchGear 3'UTR luciferase reporter plasmidEXTL1 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat EXTL1
      QuantiFast Probe-based Assays in human, mouse, rat EXTL1

    Additional mRNA sequence: 

    BC065528.1 U67191.1 

    6 DOTS entries:

    DT.112133  DT.40120042  DT.95233223  DT.121404879  DT.99935926  DT.97800259 

    Selected AceView cDNA sequences (see all 43):

    BC065528 BQ437752 AJ573358 BE302859 AL135578 BE274649 CF131386 AI087282 
    CB155284 BX499858 CD514557 CB152781 U67191 R12464 BX115540 CA488292 
    AA985331 CF593227 NM_004455 BQ186404 BU188040 BQ878681 BM041914 BQ181741 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for EXTL1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12
    SP1:              -                       -           -                                                   
    SP2:                                                  -                                                   
    SP3:                                      -                                                               
    SP4:              -           -           -                                                               
    SP5:                                                                                                      


    ECgene alternative splicing isoforms for EXTL1

    (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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    EXTL1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCAGAGGGC
    EXTL1 Expression
    About this image


    EXTL1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             HyStem+BMP4-induced 4D20.8 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 6 entries
             HyStem+BMP4-induced 4D20.8 cells
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules
    EXTL1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    EXTL1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.150956
        Custom PCR Arrays for EXTL1
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for EXTL1

    (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 EXTL1 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Extl11 , 5 exostoses (multiple)-like 11, 5 79.08(n)1
    74.92(a)1
      4 (66.63 cM)5
    562191  NM_019578.21  NP_062524.21 
     1343563725 
    chicken
    (Gallus gallus)
    Aves EXTL16
    exostosin-like glycosyltransferase 1
    30(a)
    1 ↔ 1
    AADN03009825.1(21-5084)
    lizard
    (Anolis carolinensis)
    Reptilia EXTL16
    exostosin-like glycosyltransferase 1
    46(a)
    1 ↔ 1
    GL343480.1(220624-272565)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01072303.16
    Uncharacterized protein
    34(a)
    1 ↔ 1
    19(50188997-50189651) ENSDARG00000088696
    fruit fly
    (Drosophila melanogaster)
    Insecta ttv6
    tout-velu
    36(a)
    1 → many
    2R(10413772-10475422)
    worm
    (Caenorhabditis elegans)
    Secernentea rib-16
    Protein RIB-1 (rib-1) mRNA, complete cds
    29(a)
    1 → many
    IV(11578757-11583920) WBGene00004360


    ENSEMBL Gene Tree for EXTL1 (if available)
    TreeFam Gene Tree for EXTL1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for EXTL1 gene
    EXTL32  EXTL22  EXT12  EXT22  
    1 SIMAP similar gene for EXTL1 using alignment to 1 protein entry:     EXTL1_HUMAN:
    EXT1

    Find genes that share paralogs with EXTL1           About GenesLikeMe



    (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 EXTL1 (see all 425)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs65989391,2
    C,F,A,H--26346284(+) ttcagC/Taaata 1 -- us2k111Minor allele frequency- T:0.46NS EA WA NA 766
    rs783058271,2
    F--26346525(+) TCTGTA/CATTGC 1 -- us2k11Minor allele frequency- C:0.02NA 120
    rs127544011,2
    C,F,A,H--26346549(+) gttctA/Gtaatt 1 -- us2k110Minor allele frequency- G:0.15NS EA NA WA 786
    rs120701541,2
    H--26346570(+) ggacaG/Acgagc 1 -- us2k14Minor allele frequency- A:0.00NS EA 418
    rs1930132521,2
    --26346572(+) ACAGCA/GAGCTC 1 -- us2k10--------
    rs120712081,2
    C,F,H--26346829(+) aatacG/Aagtgt 1 -- us2k110Minor allele frequency- A:0.02NS EA NA WA 1210
    rs1851451511,2
    --26346855(+) TTACTA/CAGGGT 1 -- us2k10--------
    rs1907902361,2
    --26346961(+) AGGAAC/TGACAT 1 -- us2k10--------
    rs112478441,2
    C,F,A,H--26347082(+) GAAAGG/AGGGGG 1 -- us2k1 trp314Minor allele frequency- A:0.14NS EA NA WA 1202
    rs1159354841,2
    C,F--26347167(+) ATCACC/TGAGTG 1 -- us2k11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for EXTL1 (26346375 - 26362955 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for EXTL1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv871353CNV Loss21882294
    nsv834513CNV Gain17160897

    Site Specific Mutation Identification with PCR Assays
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    (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.)
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    OMIM gene information: 601738    OMIM disorders: --

    2 diseases for EXTL1:    
    About MalaCards
    hereditary multiple exostoses    exostosis

    1 disease from the University of Copenhagen DISEASES database for EXTL1:
    Exostosis

    Find genes that share disorders with EXTL1           About GenesLikeMe

    2 Novoseek inferred disease relationships for EXTL1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    exostoses multiple hereditary 92.4 1 17237233 (1)
    tumors 0 1 17237233 (1)


    Export disorders for EXTL1 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 EXTL1 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with EXTL1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and localization of the gene for EXTL, a third member of the multiple exostoses gene family. (PubMed id 9037597)1, 2, 3 Wise C.A.... Lovett M. (Genome Res. 1997)
    2. Mutation analysis of hereditary multiple exostoses in the Chinese. (PubMed id 10480354)1, 2, 9 Xu L.... Deng H.-X. (Hum. Genet. 1999)
    3. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Refined physical mapping and genomic structure of the EXTL1 gene. (PubMed id 10575224)1, 2 Wuyts W.... Speleman F. (Cytogenet. Cell Genet. 1999)
    6. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 2011)
    7. Systematic identification of SH3 domain-mediated human protein-protein interactions by peptide array target screening. (PubMed id 17474147)1 Wu C....Li S.S. (Proteomics 2007)
    8. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    9. Molecular analysis of the putative tumour-suppressor gene EXTL1 in neuroblastoma patients and cell lines. (PubMed id 15110891)1 Mathysen D....Wuyts W. (Eur. J. Cancer 2004)
    10. Hereditary multiple exostoses and heparan sulfate polymerization. (PubMed id 12417417)1 Zak B.M....Esko J.D. (Biochim. Biophys. Acta 2002)

    (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: 2134 HGNC: 3515 AceView: EXTL1 Ensembl:ENSG00000158008 euGenes: HUgn2134
    ECgene: EXTL1 Kegg: 2134 H-InvDB: EXTL1

    (According to HUGE)
    About This Section

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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 EXTL1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for EXTL1 Genetics and Cytogenetics in Oncology and Haematology
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=EXTL1
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_529

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for EXTL1 gene:
    Search GeneIP for patents involving EXTL1

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



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