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FLASH GENE
Symbol ELL contributors: mct/npt - updated : 02-04-2014
HGNC name elongation factor RNA polymerase II
HGNC id 23114
Location 19p13.11      Physical location : 18.553.474 - 18.632.937
Synonym name
  • RNA polymerase II elongation factor
  • chromosome 19 open reading frame 17
  • eleven-nineteen lysine-rich leukemia gene
  • ELL gene (11-19 lysine-rich leukemia gene)
  • Synonym symbol(s) C19orf17, ELL1, Men, DKFZp434I1916, PPP1R68
    DNA
    TYPE functioning gene
    STRUCTURE 79.45 kb     12 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    CLONE24945 LOC284438 19p13.12 similar to Citrate synthase, mitochondrial precursor LOC126358 19p13.12 similar to apolipoprotein A-I binding protein; apoA-I binding protein LOC390897 19 similar to ribosomal protein S18 IL12RB1 19p13.1 interleukin 12 receptor, beta 1 KIAA0561 PIK3R2 19q13.2-q13.4 phosphoinositide-3-kinase, regulatory subunit, polypeptide 2 (p85 beta) IFI30 19p13.1 interferon, gamma-inducible protein 30 MGC12972 19p13.11 hypothetical protein MGC12972 RAB3A 19p13.1 RAB3A, member RAS oncogene family PDE4C 19P13.1 phosphodiesterase 4C, cAMP-specific (phosphodiesterase E1 dunce homolog, Drosophila) LOC388516 19 LOC388516 KIAA1683 19p13.1 KIAA1683 JUND 19p13.1 jun D proto-oncogene LSM4 19p13.1 LSM4 homolog, U6 small nuclear RNA associated (S. cerevisiae) PGPEP1 19p13.11 pyroglutamyl-peptidase I PLAB MGC10812 19p13.11 hypothetical protein MGC10812 LOC388517 19 similar to MOST-1 protein MAPA 19p13.11 monocyte and plasmacytoid activated molecule SSBP4 19p13.1 single stranded DNA binding protein 4 ISYNA1 19p13.11 myo-inositol 1-phosphate synthase A1 DKFZp434I1916 ELL 19p13.1 elongation factor RNA polymerase II FKBP8 19p12 FK506 binding protein 8, 38kDa MGC2749 19p13.11 hypothetical protein MGC2749 UBA52 19p13.1-p12 ubiquitin A-52 residue ribosomal protein fusion product 1 FLJ20850 19p13.11 hypothetical protein FLJ20850 CRLF1 19p12 cytokine receptor-like factor 1 C19orf4 19p12 chromosome 19 open reading frame 4 FLJ11078 19p13.11 hypothetical protein FLJ11078 MECT1 19p13 mucoepidermoid carcinoma translocated 1 COMP 19p13.1 cartilage oligomeric matrix protein (pseudoachondroplasia, epiphyseal dysplasia 1, multiple) RENT1 19p13.2-p13.11 regulator of nonsense transcripts 1 GDF1 19p13.1-p12 growth differentiation factor 1 LASS1-GDF1 19p12 LAG1 longevity assurance homolog 1 (S. cerevisiae), growth differentiation factor 1 transcription unit LASS1 19p13.1-p12 LAG1 longevity assurance homolog 1 (S. cerevisiae)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 4077 - 621 - Zhou (2009)
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen    
     thymus    
    Cardiovascularheart    
    Digestiveliver    
    Nervousbraindiencephalonamygdala  
     brainhindbrainmedulla oblongata  
    Reproductivefemale systemovary   
     male systemtestis   
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoieticbone marrow   
    Lymphoid    
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal, pregnancy
    Text placenta, eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a highly basic lysine-rich motif
  • two major domains, including inhibitory domain (150 AAs) and elongation activity domain (60373 AAs), which carry distinct functions (Zhou 2009)
  • extreme C-terminus (AAs 508621), which is responsible for TP53 repression, is both necessary and sufficient for the malignant transformation of bone marrow cells (Zhou 2009)
  • HOMOLOGY
    Homologene
    FAMILY
  • ELL/occludin family
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles
    basic FUNCTION
  • increasing the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA
  • indirectly modulates transcription by serving as a regulator for transcriptional elongation as well as for TP53, EAF2, and steroid receptor activities (Zhou 2009)
  • could modulate THBS1 promoter activity in a direct manner and could indeed serve as a transcriptional factor to regulate its expression (Zhou 2009)
  • influences vasculogenesis, at least in part, through up-regulating THBS1 (Zhou 2009)
  • has an early and essential role during rapid high-amplitude gene expression that is required for both Pol II pause site entry and release
  • in addition to its association within super elongation complex (SEC), is also a component of the little elongation complex (LEC) involved in small nuclear RNA (snRNA) gene expression in ES cells
  • is recruited to UV-damaged chromatin in a CDK7- dependent manner
  • is essential for transcription resumption after removal of transcription blocking DNA lesions by the transcription-coupled repair (TCR) machinery
  • ELL and CDK7 play essential yet distinct roles during transcription-coupled repair (TCR)
  • role of ELL in response to DNA damage, providing an insight into the mechanism for KMT2A-ELL-associated leukemogenesis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • super elongation complex (SEC) consists of the POLR2A elongation factors ELL, CCNT1 and several frequent KMT2A translocation partners (PMID;
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with EAF1 and EAF2 (strong positive regulators of ELL elongation activity)(Kong 2005)
  • MCM2 binds to SNF8 and MCM2 competes with ELL for binding to SNF8 thus potentially modulating the stability of Holo-ELL complex
  • ELL and HIF1A are binding partners and can modulate the functions of each other in hypoxia (PMID;
  • is a GTF2H2 partner
  • translocation partner of MLL in acute myeloid leukemia
  • direct downstream target gene of E2F1 (ELL enhanced E2F1 deacetylation via recruitment of HDAC1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   translocation    
    translocated t(11;19) and fused with HRX (MLL) in t(11;19) acute lymphoblastic leukemia
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS