ELL (eleven nineteen lysin rich leukemia gene)
2003-04-01 Jay L. Hess AffiliationDepartment of Pathology, The University of Michigan, M5240 Medical Science I, 1301 Catherine Avenue, Ann Arbor, MI 48109-0602, USA
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.
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)
Pathways
Protein levels (Protein atlas)
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/ell-(eleven-nineteen-lysin-rich-leukemia-gene)
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
