| Written | 2003-04 | Jay L. Hess |
| Department of Pathology, The University of Michigan, M5240 Medical Science I, 1301 Catherine Avenue, Ann Arbor, MI 48109-0602, USA |
| This article is an update of : |
| 1997-12 | Jean-Loup Huret | |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| Alias (NCBI) | MEN (myeloid eleven nineteen translocation: <-- WARNING: unrelated to MEN1 and MEN2) | ELL-PEN |
| HGNC (Hugo) | ELL |
| HGNC Alias symb | Men | ELL1 | PPP1R68 |
| HGNC Alias name | protein phosphatase 1, regulatory subunit 68 | eleven-nineteen lysine-rich leukemia gene |
| HGNC Previous name | C19orf17 |
| HGNC Previous name | chromosome 19 open reading frame 17 | elongation factor RNA polymerase II |
| LocusID (NCBI) | 8178 |
| Atlas_Id | 10 |
| Location | 19p13.11 [Link to chromosome band 19p13] |
| Location_base_pair | Starts at 18442663 and ends at 18522070 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping ELL.png] |
| 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) | |
| DNA/RNA |
| Transcription | alternate splicing; 4.4 and 2.8 kb mRNA; coding sequence: 1.9 kb |
| Protein |
| 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 |
| Note | |
| 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. |
| Bibliography |
| 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 |
| Citation |
| 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 ] |
| History of this paper: |
| Huret, JL. ELL (eleven nineteen lysin rich leukemia gene). Atlas Genet Cytogenet Oncol Haematol. 1997;1(2):65-65. |
| http://documents.irevues.inist.fr/bitstream/handle/2042/32054/12-1997-ELLID10.pdf |
| Other Leukemias implicated (Data extracted from papers in the Atlas) [ 6 ] |
| 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 |
| MEN1%20and%20 | automatic search in PubMed |
| MEN1%20and%20 | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jan 1 18:50:53 CET 2021 |
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