ELL (eleven nineteen lysin rich leukemia gene)

2003-04-01   Jay L. Hess 

Department of Pathology, The University of Michigan, M5240 Medical Science I, 1301 Catherine Avenue, Ann Arbor, MI 48109-0602, USA

Identity

HGNC
LOCATION
19p13.11
LOCUSID
FUSION GENES

DNA/RNA

Transcription

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

Proteins

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 name
Disease
mainly M4/M5; treatment related leukemia; all ages
Prognosis
very poor
Cytogenetics
detected with R banding
Hybrid gene
5 MLL - 3 ELL
Fusion 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.

Bibliography

Pubmed IDLast YearTitleAuthors
110900742000A carboxy-terminal domain of ELL is required and sufficient for immortalization of myeloid progenitors by MLL-ELL.DiMartino JF et al
116894502001Drosophila ELL is associated with actively elongating RNA polymerase II on transcriptionally active sites in vivo.Gerber M et al
112389042001Functional analysis of the leukemia protein ELL: evidence for a role in the regulation of cell growth and survival.Johnstone RW et al
114638482001The elongation domain of ELL is dispensable but its ELL-associated factor 1 interaction domain is essential for MLL-ELL-induced leukemogenesis.Luo RT et al
102338721999Transcriptional inhibition of p53 by the MLL/MEN chimeric protein found in myeloid leukemia.Maki K et al
108827412000Identification, cloning, expression, and biochemical characterization of the testis-specific RNA polymerase II elongation factor ELL3.Miller T et al
77188741995Cloning of several species of MLL/MEN chimeric cDNAs in myeloid leukemia with t(11;19)(q23;p13.1) translocation.Mitani K et al
92683871997Structure 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 et al
114184812001EAF1, a novel ELL-associated factor that is delocalized by expression of the MLL-ELL fusion protein.Simone F et al
79915931994Cloning of ELL, a gene that fuses to MLL in a t(11;19)(q23;p13.1) in acute myeloid leukemia.Thirman MJ et al

Other Information

Locus ID:

NCBI: 8178
MIM: 600284
HGNC: 23114
Ensembl: ENSG00000105656

Variants:

dbSNP: 8178
ClinVar: 8178
TCGA: ENSG00000105656
COSMIC: ELL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000105656ENST00000262809P55199
ENSG00000105656ENST00000594635U3KQA3
ENSG00000105656ENST00000596124U3KQ90

Expression (GTEx)

0
10
20
30
40
50
60
70
80

Pathways

PathwaySourceExternal ID
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Late Phase of HIV Life CycleREACTOMER-HSA-162599
Transcription of the HIV genomeREACTOMER-HSA-167172
HIV Transcription ElongationREACTOMER-HSA-167169
Tat-mediated elongation of the HIV-1 transcriptREACTOMER-HSA-167246
Formation of HIV-1 elongation complex containing HIV-1 TatREACTOMER-HSA-167200
HIV elongation arrest and recoveryREACTOMER-HSA-167287
Formation of HIV elongation complex in the absence of HIV TatREACTOMER-HSA-167152
Pausing and recovery of HIV elongationREACTOMER-HSA-167290
Tat-mediated HIV elongation arrest and recoveryREACTOMER-HSA-167243
Pausing and recovery of Tat-mediated HIV elongationREACTOMER-HSA-167238
Gene ExpressionREACTOMER-HSA-74160
Generic Transcription PathwayREACTOMER-HSA-212436
Transcriptional Regulation by TP53REACTOMER-HSA-3700989
RNA Polymerase II TranscriptionREACTOMER-HSA-73857
RNA Polymerase II Pre-transcription EventsREACTOMER-HSA-674695
RNA Polymerase II Transcription ElongationREACTOMER-HSA-75955
Formation of RNA Pol II elongation complexREACTOMER-HSA-112382
DNA RepairREACTOMER-HSA-73894
Nucleotide Excision RepairREACTOMER-HSA-5696398
Transcription-Coupled Nucleotide Excision Repair (TC-NER)REACTOMER-HSA-6781827
TP53 Regulates Transcription of DNA Repair GenesREACTOMER-HSA-6796648
RNA polymerase II transcribes snRNA genesREACTOMER-HSA-6807505

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
228954302012The super elongation complex (SEC) family in transcriptional control.139
222525572012ELL facilitates RNA polymerase II pause site entry and release.22
241276012013ELL, a novel TFIIH partner, is involved in transcription restart after DNA repair.18
194478902009Elongation factor ELL (Eleven-Nineteen Lysine-rich Leukemia) acts as a transcription factor for direct thrombospondin-1 regulation.14
201661372010ELL is an HIF-1alpha partner that regulates and responds to hypoxia response in PC3 cells.7
243441982014ELL inhibits E2F1 transcriptional activity by enhancing E2F1 deacetylation via recruitment of histone deacetylase 1.2
261885102015The Tax oncogene enhances ELL incorporation into p300 and P-TEFb containing protein complexes to activate transcription.2
272681412016p53 represses the transcription of snRNA genes by preventing the formation of little elongation complex.2
160862882005[Application of reverse transcription-multiplex nested PCR to detect MLL rearrangement in AML-M4/M5].0
270093662016ELL targets c-Myc for proteasomal degradation and suppresses tumour growth.0

Citation

Jay L. Hess

ELL (eleven nineteen lysin rich leukemia gene)

Atlas Genet Cytogenet Oncol Haematol. 2003-04-01

Online version: http://atlasgeneticsoncology.org/gene/10/ell

Historical Card

1997-12-01 ELL (eleven nineteen lysin rich leukemia gene) by  Jean-Loup Huret 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France