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

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ELL (eleven nineteen lysin rich leukemia gene)

Identity

Other namesMEN (myeloid eleven nineteen translocation: <-- WARNING: unrelated to MEN1 and MEN2); ELL-PEN
HGNC (Hugo) ELL
Location 19p13.1
Location_base_pair Starts at 18414473 and ends at 18493918 bp from pter ( according to hg18-Mar_2006)  [Mapping]
Local_order proximal from LYL1 in 19p13.2-p13.1; ENL and E2A are more distal in 19p13.3

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

Entity t(11.19)(q23;p13.1) /ANLL --> MLL-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.
  

External links

Nomenclature
HGNC (Hugo)ELL   23114
Entrez_Gene (NCBI)ELL  8178  elongation factor RNA polymerase II
Cards
AtlasELL
GeneCards (Weizmann)ELL
Ensembl (Hinxton)ENSG00000105656 [Gene_View]  ELL [Vega]
AceView (NCBI)ELL
Genatlas (Paris)ELL
euGene (Indiana)8178
SOURCE (Stanford)NM_006532
Genomic and cartography
GoldenPath (UCSC)ELL  -  19p13.1   chr19:18414473-18493918 -  19p13.1   [Description]    (hg18-Mar_2006)
EnsemblELL - 19p13.1 [CytoView]
Mapping of homologs : NCBIELL [Mapview]
OMIM600284   
Gene and transcription
Gene : Genbank (Entrez)AB208794 AF157562 AK225481 AK293105 AK309878
Reference sequence (RefSeq transcript) :SRSNM_006532
Reference transcript : EntrezNM_006532
RefSeq genomic : SRSAC_000062 AC_000151 NC_000019 NT_011295 NW_001838484 NW_927195
RefSeq genomic : EntrezAC_000062 AC_000151 NC_000019 NT_011295 NW_001838484 NW_927195
Consensus coding sequences : CCDS NCBIELL
Cluster EST : UnigeneHs.515260 [ SRS ] Hs.515260 [ NCBI ]
Alternative Splicing : Fast-db (Paris)9127
Protein : pattern, domain, 3D structure
Protein : UniProt/SwissProtP55199 (SRS) P55199 (Expasy) P55199 (Uniprot)
With graphics : InterProP55199
Splice isoforms : VarSplice FASTAP55199(VarSplice FASTA)
Domains : Interpro (SRS)Occludin_ELL   
Domains : Interpro (EBI)Occludin_ELL   
Related proteins : CluSTrP55199
Domain families : Pfam SRSOccludin_ELL (PF07303)   
Domain families : Pfam SangerOccludin_ELL (PF07303)   
Domain families : Pfam NCBIpfam07303   
Blocks (Seattle)P55199
Crystal structure of protein : PDB SRS2DOA   
Crystal structure of protein : PDBSum2DOA   
Crystal structure of protein : IMB2DOA   
Crystal structure of protein : PDB RSDB2DOA   
HPRD02615
Protein Interaction databases
DIP (DOE-UCLA)P55199
IntAct (EBI)P55199
Polymorphism : SNP, mutations, diseases
Single Nucleotide Polymorphism (SNP) : dbSNP NCBIELL
SNP : GeneSNP UtahELL
SNP : HGBaseELL
Genetic variants : HAPMAPELL
Somatic Mutations in Cancer : COSMICELL 
Translocation Breakpoints in Cancer : TICdbELL 
Mutations and Diseases : HGMDELL
Hereditary diseases : OMIM600284   
Hereditary diseases : GENETests600284   
Diseases : Genetic AssociationELL
General knowledge
Homologs : HomoloGeneELL
Homology/Alignments : Family Browser UCSCELL
Phylogenetic Trees/Animal Genes : TreeFamELL
Chemical/Protein Interactions : CTD8178
Keywords Ontology : AmiGOprotein binding  extracellular region  nucleus  nucleoplasm  transcription  regulation of transcription, DNA-dependent  RNA elongation from RNA polymerase II promoter  positive transcription elongation factor activity  nuclear speck  
Keywords Ontology : EGO-EBIprotein binding  extracellular region  nucleus  nucleoplasm  transcription  regulation of transcription, DNA-dependent  RNA elongation from RNA polymerase II promoter  positive transcription elongation factor activity  nuclear speck  
Pathways : BIOCARTA
Pathways : KEGG
Other databases
Probes
Probes : ImagenesELL Related clones (RZPD - Berlin)
Literature
PubMed25 Pubmed reference(s) in Entrez
PubGeneELL

Bibliography

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
 
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
 
An RNA polymerase II elongation factor encoded by the human ELL gene.
Shilatifard A, Lane WS, Jackson KW, Conaway RC, Conaway JW
Science (New York, N.Y.). 1996 ; 271 (5257) : 1873-1876.
PMID 8596958
 
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
 
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
 
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
 
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
 
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
 
MEN1%20and%20MEN2);%20ELL-PEN%5BTI%5D%20)%20AND%20REVIEW%5BPT%5D%20AND%20ENGLISH%5BLA%5D&field=titl&dispmax=50>REVIEW articlesautomatic search in PubMed
MEN1%20and%20MEN2);%20ELL-PEN%5BTI%5D%20)%20AND%20(2006%5BDP%5D%20OR%202008%20OR%202009%5BDP%5D)&field=titl&dispmax=50>Last year publicationsautomatic search in PubMed

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Contributor(s)

Written12-1997Jean-Loup Huret
Updated04-2003Jay L. Hess

Citation

This paper should be referenced as such :
Huret JL . ELL (eleven nineteen lysin rich leukemia gene). Atlas Genet Cytogenet Oncol Haematol. December 1997 .
URL : http://AtlasGeneticsOncology.org/Genes/ELL.html
Hess JL . ELL (eleven nineteen lysin rich leukemia gene). Atlas Genet Cytogenet Oncol Haematol. April 2003 .
URL : http://AtlasGeneticsOncology.org/Genes/ELL.html

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indexed on : Sat Jun 27 16:37:32 CEST 2009

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