ELL (eleven nineteen lysin rich leukemia gene)

2003-04-01 Jay L. Hess Affiliation

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

Identity

HGNC

ELL

LOCATION

19p13.11

LOCUSID

8178

FUSION GENES

Show Gene Fusions

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

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 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.

Article Bibliography

Pubmed ID	Last Year	Title	Authors
11090074	2000	A carboxy-terminal domain of ELL is required and sufficient for immortalization of myeloid progenitors by MLL-ELL.	DiMartino JF et al
11689450	2001	Drosophila ELL is associated with actively elongating RNA polymerase II on transcriptionally active sites in vivo.	Gerber M et al
11238904	2001	Functional analysis of the leukemia protein ELL: evidence for a role in the regulation of cell growth and survival.	Johnstone RW et al
11463848	2001	The 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
10233872	1999	Transcriptional inhibition of p53 by the MLL/MEN chimeric protein found in myeloid leukemia.	Maki K et al
10882741	2000	Identification, cloning, expression, and biochemical characterization of the testis-specific RNA polymerase II elongation factor ELL3.	Miller T et al
7718874	1995	Cloning of several species of MLL/MEN chimeric cDNAs in myeloid leukemia with t(11;19)(q23;p13.1) translocation.	Mitani K et al
9268387	1997	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 et al
11418481	2001	EAF1, a novel ELL-associated factor that is delocalized by expression of the MLL-ELL fusion protein.	Simone F et al
7991593	1994	Cloning 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 ID	Transcript ID	Uniprot
ENSG00000105656	ENST00000262809	P55199
ENSG00000105656	ENST00000594635	U3KQA3
ENSG00000105656	ENST00000596124	U3KQ90

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Disease	REACTOME	R-HSA-1643685
Infectious disease	REACTOME	R-HSA-5663205
HIV Infection	REACTOME	R-HSA-162906
HIV Life Cycle	REACTOME	R-HSA-162587
Late Phase of HIV Life Cycle	REACTOME	R-HSA-162599
Transcription of the HIV genome	REACTOME	R-HSA-167172
HIV Transcription Elongation	REACTOME	R-HSA-167169
Tat-mediated elongation of the HIV-1 transcript	REACTOME	R-HSA-167246
Formation of HIV-1 elongation complex containing HIV-1 Tat	REACTOME	R-HSA-167200
HIV elongation arrest and recovery	REACTOME	R-HSA-167287
Formation of HIV elongation complex in the absence of HIV Tat	REACTOME	R-HSA-167152
Pausing and recovery of HIV elongation	REACTOME	R-HSA-167290
Tat-mediated HIV elongation arrest and recovery	REACTOME	R-HSA-167243
Pausing and recovery of Tat-mediated HIV elongation	REACTOME	R-HSA-167238
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
RNA Polymerase II Transcription	REACTOME	R-HSA-73857
RNA Polymerase II Pre-transcription Events	REACTOME	R-HSA-674695
RNA Polymerase II Transcription Elongation	REACTOME	R-HSA-75955
Formation of RNA Pol II elongation complex	REACTOME	R-HSA-112382
DNA Repair	REACTOME	R-HSA-73894
Nucleotide Excision Repair	REACTOME	R-HSA-5696398
Transcription-Coupled Nucleotide Excision Repair (TC-NER)	REACTOME	R-HSA-6781827
TP53 Regulates Transcription of DNA Repair Genes	REACTOME	R-HSA-6796648
RNA polymerase II transcribes snRNA genes	REACTOME	R-HSA-6807505

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
36543308	2023	Stratification and therapeutic potential of ELL in cytogenetic normal acute myeloid leukemia.	0
36543308	2023	Stratification and therapeutic potential of ELL in cytogenetic normal acute myeloid leukemia.	0
36305813	2022	ATM-mediated ELL phosphorylation enhances its self-association through increased EAF1 interaction and inhibits global transcription during genotoxic stress.	2
36305813	2022	ATM-mediated ELL phosphorylation enhances its self-association through increased EAF1 interaction and inhibits global transcription during genotoxic stress.	2
33157094	2021	ELL Facilitates RNA Polymerase II-Mediated Transcription of Human Epidermal Proliferation Genes.	5
33157094	2021	ELL Facilitates RNA Polymerase II-Mediated Transcription of Human Epidermal Proliferation Genes.	5
32152128	2020	DBC1, p300, HDAC3, and Siah1 coordinately regulate ELL stability and function for expression of its target genes.	16
32152128	2020	DBC1, p300, HDAC3, and Siah1 coordinately regulate ELL stability and function for expression of its target genes.	16
27009366	2016	ELL targets c-Myc for proteasomal degradation and suppresses tumour growth.	15
27268141	2016	p53 represses the transcription of snRNA genes by preventing the formation of little elongation complex.	2
27009366	2016	ELL targets c-Myc for proteasomal degradation and suppresses tumour growth.	15
27268141	2016	p53 represses the transcription of snRNA genes by preventing the formation of little elongation complex.	2
26188510	2015	The Tax oncogene enhances ELL incorporation into p300 and P-TEFb containing protein complexes to activate transcription.	3
26188510	2015	The Tax oncogene enhances ELL incorporation into p300 and P-TEFb containing protein complexes to activate transcription.	3
24344198	2014	ELL inhibits E2F1 transcriptional activity by enhancing E2F1 deacetylation via recruitment of histone deacetylase 1.	6

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/favicon/js/welcome

Historical Card

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

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