MEN1 and MEN2), ELL-PEN, Genes Proteins Oncogenes.">

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ELL (eleven nineteen lysin rich leukemia gene)

Written1997-12Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Updated2003-04Jay L. Hess
Department of Pathology, The University of Michigan, M5240 Medical Science I, 1301 Catherine Avenue, Ann Arbor, MI 48109-0602, USA

(Note : for Links provided by Atlas : click)


Other aliasMEN (myeloid eleven nineteen translocation: <-- WARNING: unrelated to MEN1 and MEN2)
LocusID (NCBI) 8178
Atlas_Id 10
Location 19p13.11  [Link to chromosome band 19p13]
Location_base_pair Starts at and ends at bp from pter
Local_order proximal from LYL1 in 19p13.2-p13.1; ENL and E2A are more distal in 19p13.3
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ALDH1A1 (9q21.13) / ELL (19p13.11)CDC37 (19p13.2) / ELL (19p13.11)ELL (19p13.11) / CISD3 (17q12)
ELL (19p13.11) / CLIP2 (7q11.23)ELL (19p13.11) / CRLF1 (19p13.11)ELL (19p13.11) / FKBP8 (19p13.11)
ELL (19p13.11) / HERC2P7 (15q11.2)ELL (19p13.11) / KMT2A (11q23.3)ELL (19p13.11) / MVB12A (19p13.11)
ELL (19p13.11) / R3HCC1 (8p21.3)ELL (19p13.11) / SMIM7 (19p13.11)ELL (19p13.11) / ZNF100 (19p12)
HNRNPD (4q21.22) / ELL (19p13.11)KMT2A (11q23.3) / ELL (19p13.11)LSM4 (19p13.11) / ELL (19p13.11)


Transcription alternate splicing; 4.4 and 2.8 kb mRNA; coding sequence: 1.9 kb


Description 621 amino acids; 68 kDa; contains a Lysin rich domain (basic motif)
Expression wide; especially in leukocytes, muscle, testis, placenta
Localisation nuclear, except the nucleolus
Function RNA polymerase II elongation factor, promotes transcription by suppressing transient pausings. In Drosophila ELL is associated with active sites of transcription in vivo. Overexpression of ELL is toxic, suggesting the normal protein may play a role in the regulation of cell growth and survival.
Homology ELL2, ELL3

Implicated in

Entity t(11.19)(q23;p13.1) /AML --> KMT2A-ELL
Disease mainly M4/M5; treatment related leukemia; all ages
Prognosis very poor
Cytogenetics detected with R banding
Hybrid/Mutated Gene 5' MLL - 3' ELL
Abnormal Protein Similar to other MLL fusion proteins. The amino terminal AT hook and DNA methyltransferase homology regions from from MLL are fused to most of ELL
Oncogenesis The carboxyl terminal region of ELL is required for transformation by MLL-ELL in murine bone marrow transformation assays. This region has potent transcriptional activating activity, and interacts with EAF1, a protein that shares homology with AF4, LAF4, and AF5q31. Interestingly the EAF1 interacting domain, but not the ELL elongation domain is required for transformation. ELL has also been reported to interact withp53 and inhibit its transcriptional activating activity.


A carboxy-terminal domain of ELL is required and sufficient for immortalization of myeloid progenitors by MLL-ELL.
DiMartino JF, Miller T, Ayton PM, Landewe T, Hess JL, Cleary ML, Shilatifard A
Blood. 2000 ; 96 (12) : 3887-3893.
PMID 11090074
Drosophila ELL is associated with actively elongating RNA polymerase II on transcriptionally active sites in vivo.
Gerber M, Ma J, Dean K, Eissenberg JC, Shilatifard A
The EMBO journal. 2001 ; 20 (21) : 6104-6114.
PMID 11689450
Functional analysis of the leukemia protein ELL: evidence for a role in the regulation of cell growth and survival.
Johnstone RW, Gerber M, Landewe T, Tollefson A, Wold WS, Shilatifard A
Molecular and cellular biology. 2001 ; 21 (5) : 1672-1681.
PMID 11238904
The elongation domain of ELL is dispensable but its ELL-associated factor 1 interaction domain is essential for MLL-ELL-induced leukemogenesis.
Luo RT, Lavau C, Du C, Simone F, Polak PE, Kawamata S, Thirman MJ
Molecular and cellular biology. 2001 ; 21 (16) : 5678-5687.
PMID 11463848
Transcriptional inhibition of p53 by the MLL/MEN chimeric protein found in myeloid leukemia.
Maki K, Mitani K, Yamagata T, Kurokawa M, Kanda Y, Yazaki Y, Hirai H
Blood. 1999 ; 93 (10) : 3216-3224.
PMID 10233872
Identification, cloning, expression, and biochemical characterization of the testis-specific RNA polymerase II elongation factor ELL3.
Miller T, Williams K, Johnstone RW, Shilatifard A
The Journal of biological chemistry. 2000 ; 275 (41) : 32052-32056.
PMID 10882741
Cloning of several species of MLL/MEN chimeric cDNAs in myeloid leukemia with t(11;19)(q23;p13.1) translocation.
Mitani K, Kanda Y, Ogawa S, Tanaka T, Inazawa J, Yazaki Y, Hirai H
Blood. 1995 ; 85 (8) : 2017-2024.
PMID 7718874
Structure and function of RNA polymerase II elongation factor ELL. Identification of two overlapping ELL functional domains that govern its interaction with polymerase and the ternary elongation complex.
Shilatifard A, Haque D, Conaway RC, Conaway JW
The Journal of biological chemistry. 1997 ; 272 (35) : 22355-22363.
PMID 9268387
EAF1, a novel ELL-associated factor that is delocalized by expression of the MLL-ELL fusion protein.
Simone F, Polak PE, Kaberlein JJ, Luo RT, Levitan DA, Thirman MJ
Blood. 2001 ; 98 (1) : 201-209.
PMID 11418481
Cloning of ELL, a gene that fuses to MLL in a t(11;19)(q23;p13.1) in acute myeloid leukemia.
Thirman MJ, Levitan DA, Kobayashi H, Simon MC, Rowley JD
Proceedings of the National Academy of Sciences of the United States of America. 1994 ; 91 (25) : 12110-12114.
PMID 7991593


This paper should be referenced as such :
Hess, JL
ELL (eleven nineteen lysin rich leukemia gene)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(2):104-105.
Free journal version : [ pdf ]   [ DOI ]
On line version :
History of this paper:
Huret, JL. ELL (eleven nineteen lysin rich leukemia gene). Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):65-65.

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 12 ]
  11q23 rearrangements (KMT2A) in therapy related leukaemias
inv(2)(p23q13) RANBP2/ALK::t(2;2)(p23;q13) RANBP2/ALK
t(11;19)(q23;p13.1) KMT2A/ELL
t(11;19)(q23;p13) KMT2A/ELL
11q23 rearrangements (KMT2A) in de novo childhood acute myeloid leukemia
11q23 rearrangements (KMT2A) in leukaemia
11q23 rearrangements (KMT2A) in therapy related leukaemias
inv(2)(p23q13) RANBP2/ALK::t(2;2)(p23;q13) RANBP2/ALK
t(11;16)(q23;p13.3) KMT2A/CREBBP
t(11;19)(q23;p13.1) KMT2A/ELL
t(11;19)(q23;p13) KMT2A/SH3GL1
t(11;19)(q23;p13) KMT2A/ELL

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 6 ]
  t(7;19)(q11;p13) ELL/CLIP2
t(17;19)(q12;p13) ELL/CISD3
CDC37/ELL (19p13)
ELL/CRLF1 (19p13)
ELL/MVB12A (19p13)
ELL/SMIM7 (19p13)

External links

Genomic and cartography
Gene and transcription
RefSeq transcript (Entrez)
RefSeq genomic (Entrez)
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
BioGPS (Tissue expression)8178
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Protein Interaction databases
Ontologies - Pathways
Clinical trials, drugs, therapy
canSAR (ICR) (select the gene name)
MEN1%20and%20MEN2)"%5BTI%5D%20OR%20"ELL-PEN"%5BTI%5D%20%29%20AND%20REVIEW%5BPT%5D%20AND%20ENGLISH%5BLA%5D&field=titl&dispmax=50>REVIEW articlesautomatic search in PubMed
MEN1%20and%20MEN2)"%5BTI%5D%20OR%20"ELL-PEN"%5BTI%5D%20%29%20AND%202014:2017[DP]%29&field=titl&dispmax=50>Last year publicationsautomatic search in PubMed

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indexed on : Thu Oct 18 17:35:03 CEST 2018

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