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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
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