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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
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 (1–50 AAs) and elongation activity domain (60–373 AAs), which carry distinct functions (Zhou 2009)
  • extreme C-terminus (AAs 508–621), 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