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ELL Gene

protein-coding   GIFtS: 62

GC19M018416
elongation factor RNA polymerase II
(Previous name: chromosome 19 open reading frame 17 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: C19orf17)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
C19orf17 2, 3
DKFZp434I1916 2
ELL1 1, 2
MEN 2
Men 1
Descriptions
ELL gene (11-19 lysine-rich leukemia gene) 2
Eleven-nineteen lysine-rich leukemia protein 3
chromosome 19 open reading frame 17 1
eleven-nineteen lysine-rich leukemia 2
elongation factor RNA polymerase II 2
External Ids
HGNC: 231141
Entrez Gene: 81782
UniProtKB: P551993
Ensembl: ENSG000001056567
Search outside databases for aliases for ELL gene

Previous GC identifers: GC19M019048 GC19M018947 GC19M018399 GC19M018415

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

UniProtKB/Swiss-Prot: ELL_HUMAN, P55199
Function: Elongation factor that can increase the catalytic rate of RNA polymerase II transcription
by suppressing transient pausing by the polymerase at multiple sites along the DNA

Gene Wiki entry for ELL

(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 ELL gene  

Entrez Gene cytogenetic band: 19p13.1   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.1

ELL 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 19         GeneLoc Exon Structure

GeneLoc location for GC19M018416:     (about GC identifiers)

Start:
18,414,473 bp from pter
End:
18,493,918 bp from pter
Size:
79,446 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000019.8  NT_011295.10  
(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: ELL_HUMAN, P55199 (See protein sequence)
Recommended Name: RNA polymerase II elongation factor ELL  
Size: 621 amino acids; 68265 Da
Subunit: Interacts with EAF1 and EAF2
Subcellular location: Nucleus speckle. Nucleus, Cajal body. Note=Colocalizes with EAF2 to nuclear
speckles. Also localized to Cajal (coiled) bodies
PDB structures from and Proteopedia :
2DOA (3D)    

Post-translational modifications:

  • Phosphorylated upon DNA damage, probably by ATM or ATR1
  • View phosphorylation sites using PhosphoSite2


  • REFSEQ proteins: NP_006523.1  

    ENSEMBL proteins: 
    ENSP00000262809 ENSP00000376196 


    Human Recombinant Proteins 
    Browse Drug Discovery Central at Invitrogen for human recombinant proteins
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich  
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Recombinant Proteins from Abcam (ELL)
    Human Recombinant Proteins from Abnova (ELL)
                  OriGene Purified Recombinant Human Protein: ELL 

    3 Gene Ontology (GO) cellular component terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IEA--
    GO:0005654 nucleoplasm EXP12676794
    GO:0016607 nuclear speck IEA--
    About this table

    Antibodies for ELL: 
    Browse Antibodies Central at Invitrogen
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Sigma-Aldrich Antibodies for ELL
    Browse R&D Systems for Antibodies
    Antibodies from Abcam (ELL), each with their AbpromiseSM
    Monoclonal and Polyclonal Antibodies from Abnova (ELL)
    Novus Biologicals Antibodies for ELL

    Assays for ELL: 
    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

    2 InterPro domains/families:
     IPR019464 RNA_pol_II_elong_fac_ELL
     IPR010844 Occludin_ELL_domain


       GeneDecks  ELL for the domains selected above  
    About GeneDecksing

    Graphical View of Domain Structure for InterPro Entry P55199

    ProtoNet protein and cluster: P55199

    1 Blocks protein family: IPB010844 Occludin and RNA polymerase II elongation factor ELL

    UniProtKB/Swiss-Prot: ELL_HUMAN, P55199
    Similarity: Belongs to the ELL/occludin family

    (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 (ELL)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ELL)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006532

                  Applied Biosystems Silencer® siRNAs for ELL

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

    Clones:Invitrogen Clones for ELL
    Browse Clones for the Expression of Recombinant Proteins Available from Millipore
                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_006532
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_006532
                                     untagged cDNA clones in CMV expression vector (see all 2): BC010010 

    Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
                  OriGene genome-wide validated SYBR primer pairs: NM_006532

    UniProtKB/Swiss-Prot: ELL_HUMAN, P55199
    Function: Elongation factor that can increase the catalytic rate of RNA polymerase II transcription
    by suppressing transient pausing by the polymerase at multiple sites along the DNA

    Genatlas biochemistry entry for ELL:
    eleven-nineteen lysine-rich leukemia gene,fused with HRX(MLL) in t(11;19) acute lymphoblastic
    leukemia

    1 MGI mutant phenotype (inferred from 1 allele(MGI details for Ell):

    lethality-prenatal/perinatal

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IPI17395368
    GO:0008159 positive transcription elongation factor activity TAS8596958
    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


     Gene Network CentralTM Interacting Genes and Proteins Network for  ELL 


    5/53 Interacting proteins for ELL (ENSP000002628093 P551991) via UniProtKB, MINT, and/or STRING (see all 53 )
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TFPTP0C1Z61EBI-1245868, EBI-1245626
    SNF8ENSP000002903303STRING (score=.995)
    EAF2ENSP000002736683STRING (score=.978)
    POLR2AENSP000003149493STRING (score=.975)
    CDK9ENSP000003623623STRING (score=.951)
    About this table

    3 Gene Ontology (GO) biological process terms (links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006350 transcription IEA--
    GO:0006355 regulation of transcription, DNA-dependent IEA--
    GO:0006368 RNA elongation from RNA polymerase II promoter TAS8596958
    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 ELL

    (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 (ELL)
    Browse for Gene Knock-down Tools from Millipore
    Abnova Chimera RNAi Products for Gene knock-down (ELL)
                  OriGene 29mer shRNA kit in GFP-retroviral vector: NM_006532

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

    Applied Biosystems Silencer® siRNAs: 

    NM_006532  

    REFSEQ mRNAs for ELL gene: 

    NM_006532.3   

    Applied Biosystems TaqMan ® Gene Expression Assays: 

    NM_006532  

                  OriGene GFP tagged cDNA clone in CMV expression vector: NM_006532
                                     Myc/DDK tagged cDNA clone in CMV expression vector: NM_006532
                                     untagged cDNA clones in CMV expression vector (see all 2): BC010010 

    Additional cDNA sequence: 

    AB208794.1 AF157562.1 AK225481.1 AK293105.1 AK309878.1 AL136771.1 BC010010.2 BC033673.1 
    BC049195.1 BC064558.1 BC108256.1 CR606202.1 S77880.1 S77889.1 U16282.1 

    8 DOTS entries:

    DT.100746195  DT.411268  DT.100739993  DT.121456731  DT.97841700  DT.91681518  DT.91731190  DT.75102546 

    24/166 AceView cDNA sequences (see all 166 ):

    F11595 CA434042 NM_006532 BC064558 AI676084 BX100377 BE326983 CF131209 
    U16282 AL118983 BM680583 CF593337 BX417969 BM806318 BE514345 CR606202 
    BE293594 BF593292 BC049195 BQ008204 AL543671 BE293597 BM553152 BC033673 

    highest scoring ESTs for ELL:

    U16282 AI830319 AL118983 AL543671 AL557978 AL570404 BC049195 BE242864 BE514345 BF898251 

    Unigene Cluster for ELL:

    Elongation factor RNA polymerase II
    Hs.515260  [show with all ESTs]
    Unigene Representative Sequence: NM_006532


    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for ELL

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c
    SP1:              -           -                                                                 -                           
    SP2:              -           -     -                                                           -                           
    SP3:                          -     -                                                           -                           
    SP4:                                                                                                                        
    SP5:              -                                                                                                         

    About this scheme

    ECgene alternative splicing isoforms for ELL

    2 Ensembl transcripts including schematic representations:
    ENST00000262809  ENST00000392395  
    (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

    ELL expression in normal and diseased human tissues

     Applied Biosystems TaqMan ® Gene Expression Assays for ELL

    1 / 2 / 3

    7 probe-sets matching ELL gene


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

    62568_at2, 3 U95-C 1 1.00 1.00 0.91 1.18 AI830319 0.80 1.00 0.91 1
    40044_at2, 3 U95-A 1 1.00 1.00 0.81 0.82 U16282 1.00 1.00 1.00 1

    204095_s_at2, 3 U133-A 1 1.00 1.00 -- -- AL521391 0.60 1.00 0.82 1

    204096_s_at2, 3 U133-A 1 1.00 1.00 -- -- AL136771 0.60 1.00 0.82 1

    204095_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    1565254_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

    204096_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    GeneDecks  ELL for binary patterns associated with the probe-sets selected above  
    About GeneDecksing
    About this table    
    Data from (Publications) and GNF BioGPS
        About these images
    About these images

    CGAP SAGE TAG: GGGTTGGTGT

    SOURCE GeneReport for Unigene cluster: Hs.515260

    Expression variation in blood from EXPOLDB for ELL

    UniProtKB/Swiss-Prot: ELL_HUMAN, P55199
    Tissue specificity: Expressed in all tissues tested. Highest levels found in placenta, skeletal
    muscle, testis and peripheral blood leukocytes

    (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 ELL gene from 5/9 species (see all 9 )
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    ELL1   -- elongation factor RNA polymerase II 86.13(n)
    89.89(a)
    484820  XM_541936.2  XP_541936.2 
    cow
    (Bos taurus)
    ELL1   -- elongation factor RNA polymerase II 87.93(n)
    88.96(a)
    506578  XM_583044.3  XP_583044.2 
    rat
    (Rattus norvegicus)
    Ell1   -- elongation factor RNA polymerase II 80.49(n)
    84.41(a)
    306347  XM_224727.4  XP_224727.4 
    mouse
    (Mus musculus)
    Ell1, 5 85
    elongation factor RNA polymerase II1, 5 80.7(n)1
    84.19(a)1
    137161  NM_007924.21  NP_031950.21 
     AA1755545  AK1590275  (see all 15)
    chicken
    (Gallus gallus)
    ELL1   -- elongation factor RNA polymerase II 72.61(n)
    73.5(a)
    420124  NM_001012847.1  NP_001012865.1 
    About this table        Species with no ortholog for ELL

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

    Paralogs for ELL gene
    ELL32  ELL22  

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


    10/392 NCBI SNPs in ELL are shown (see all 392 )
    (Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 124)
    ABGenomic DataTranscription DataAllele Frequencies
    SNP IDValidChr 19 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ------------
    rs10433271,2
    C,F,H18415972(-) CTCCTT/CGGGCA 1 -- ut31 trp38Minor allele frequency- C:0.41MN NA EU EA WA 738
    --
    rs72521301,2
    A,C18494436(+) AAACGA/GAGCGC 1 -- ng310--------
    --
    rs1720321,2
    A,C18494755(+) ctgggC/Tctgct 1 -- ng310--------
    rs23036941,2
    C,F18423438(+) CAGTGC/TTCTGT 1 S/N mis1 ese35Minor allele frequency- T:0.14NA EU EA WA 490
    rs352451961,2
    C,F18422593(+) CAGCCG/ACGGGG 1 W/R mis15Minor allele frequency- A:0.43NA EU EA WA 490
    --
    rs355684701,2
    F18415207(+) CAACA-/CATCTGT 1 -- ut315Minor allele frequency- CA:0.40EU EA NA MN 430
    rs353284611,2
    F18433616(+) GGCACC/AGCGTC 1 A/A syn11Minor allele frequency- A:0.03NA 74
    rs20130691,2
    A,C,F,H,O18460757(-) AGGACT/ACTGGT 1 -- int18Minor allele frequency- A:0.37EU EA WA NA 630
    rs8753961,2
    A,C,F,H,O18472147(-) CATGGT/CCACAC 1 -- int110Minor allele frequency- C:0.43NA EA EU WA 792
    rs19710931,2
    A,C,F,H,O18448157(-) CCTCAG/CCATCA 1 -- int17Minor allele frequency- C:0.30NA EU EA WA 554
    About this table

    HapMap Linkage Disequilibrium images for ELL (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: 600284

    UniProtKB/Swiss-Prot: ELL_HUMAN, P55199
  • A chromosomal translocation involving ELL is found in acute leukemias. Translocation
    t(11;19)(q23;p13.1) with MLL/HRX. The result is a rogue activator protein
  • 5 Novoseek disease relationships for ELL gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    myeloid leukemia 67.58 2 9478981 (1)
    acute leukemia 31.79 2 15650021 (1)
    leukemia 17.43 6 15650021 (1), 11520560 (1)
    shock 2.66 2 15611125 (2)
    tumors 0.00 1 10765922 (1)
    About this table

    Human Gene Mutation Database: ELL

    (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

    10/48 PubMed articles for ELL gene (see all 48 ):
    (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: 8178 HGNC: 23114 AceView: ELL Ensembl:ENSG00000105656 euGenes: HUgn8178
    ECgene: ELL H-InvDB: ELL
    (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
    ATLAS Chromosomes in Cancer entry for ELL Genetics and Cytogenetics in Oncology and Haematology
    (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 ELL:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



      Invitrogen iPath Pathways  Invitrogen BLOCK-iT™ RNAi
      Invitrogen Antibodies  Invitrogen Assays
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      Invitrogen Proteins / Assays / Screening Services  Search Invitrogen catalog for ELL-related products

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services


     Predesigned and custom siRNAs for ELL Antibodies for ELL
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for ELL Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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     Recombinant & Natural Proteins  

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    (ELL)
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     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     Search Tocris compounds for ELL




     Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies
     Antibodies for ELL

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